Selected Publications
Publications 2023
Nikolaou, K.C., Godbersen, S., Manoharan, M., Wieland, S., Heim, M.H., and Stoffel, M. (2023): Inflammation-induced TRIM21 represses hepatic steatosis by promoting the ubiquitination of lipogenic regulators. JCI Insight 8(21):e164694. (doi: 10.1172/jci.insight.164694)
Simmler, P., Ioannidi, E.I., Mengis, T., Marquart, K.F., Asawa, S., Van-Lehmann, K., Kahles, A., Thomas, T., Schwerdel, C., Aceto, N., Rätsch, G., Stoffel, M., Schwank, G. (2023): Mutant SF3B1 promotes malignancy in PDAC. Elife 12:e80683. (doi: 10.7554/eLife.80683)
Kobiita, A., Silva, P., Schmid, M.W., and Stoffel, M. (2023). High-resolution temporal analysis of b-cells reveals a role of FoxM1 in protein synthesis and mitochondrial activity during metabolic stress. Cell Reports 42(8):112986. (doi: 10.1016/j.celrep.2023.112986)
Guccini, I., Tang, G., To, T.T., Di Rito, L., Blanche, S., Strobel, O., D’Ambrosio, M., Pasquini, E., Bolis, M., Silva, P., Ali Kabakci, H., Godbersen, S., Alimonti, A., Schwank, G., Stoffel. M. (2023). Inhibition of ketohexokinase C isoform impairs the development of PDAC tumors. iScience 26(8):107368. (doi: 10.1016/j.isci.2023.107368)
Liu, Q.*, Ge, W. *, Martínez-Jarquín, S., He, Y., Wu, R., Stoffel, M.*, and Zenobi, R.* (2023). Mass Spectrometry Reveals High Levels of Hydrogen Peroxide in Pancreatic Cancer Cells. Angew. Chem. Int. Ed. E202213703.
Vatandaslar, H., Garzia, A., Meyer, C. Godbersen, S., Brandt, L.T.L., Griesbach, E., Chao, J.A., Tuschl, T. and Stoffel, M. (2023): In vivo PAR-CLIP (viP-CLIP) of liver TIAL1 unveils targets regulating cholesterol synthesis and secretion. Nat. Commun. 14, 3386. (doi.org/10.1038/s41467-023-39135-8)
Honer, M., Polara, A., Kuwabara, H., Jacobsen, H., Pähler, A., Hartung, T., Caruso, A., Stoffel, M., Dannals, R.F., Wong, D.F., Borroni, E., Gobbi, L. (2023). RO6807936 as a novel PET radiotracer for in vitro and in vivo visualization and quantification of BACE1 in the rodent and baboon brain. J. Label. Compd. Radiopharm. Apr 24. (doi: 10.1002/jlcr.4025)
Marcinkevics, R., Silva, P.N., Hankele, A-K., Dörnte, C., Kadelka, S., Csik, K., Godbersen, S., Goga, A., Hasenöhrl, L., Hirschi, P., Kabakci, H., LaPierre, M.P., Mayrhofer, J., Title, A.C., Shu, X., Baiioud, N., Bernal, S., Dassisti, L., Saenz-de-Juano, M.D., Schmidhauser, M., Silvestrelli, G., Ulbrich, S.Z., Ulbrich, T.J., Wyss, T., Stekhoven, D.J., Al-Quaddoomi, F.S., Yu, S., Binder, M., Schultheiss, C., Zindel, C., Kolling, C., Goldhahn, J., Seighalani, M.K., Zjablovskaja, P., Hardung, F., Schuster, M., Richter, A., Huang, Y-J., Lauer, G., Baurmann, H., Low, J.S., Vaqueirinho, D., Jovic, S., Piccoli, L., Ciesek, S., Vogt, J., Sallusto, F., Stoffel, M.*, Ulbrich, S.E.* (2023). Machine learning analysis of humoral and cellular responses to SARS-CoV-2 infection in young adults. Frontiers in Immunology 14, 2023. (doi.org/10.3389/fimmu.2023.1158905)
Publications 2022
LaPierre, M., Lawler, K., Godbersen, S., Farooqi, I.S., Stoffel, M. (2022): MicroRNA-7 regulates melanocortin circuits involved in mammalian energy homeostasis. Nature Communications 13, 5733, 2022. (DOI: 10.1038/s41467-022-33367-w)
Simmler P, Cortijo C, Koch LM, Galliker P, Angori S, Bolck HA, Mueller C, Vukolic A, Mirtschink P, Christinat Y, Davidson NR, Lehmann KV, Pellegrini G, Pauli C, Lenggenhager D, Guccini I, Ringel T, Hirt C, Marquart KF, Schaefer M, Rätsch G, Peter M, Moch H, Stoffel M, Schwank G. (2022): SF3B1 facilitates HIF1-signaling and promotes malignancy in pancreatic cancer. Cell Rep. 40:111266, 2022. (doi: 10.1016/j.celrep.2022.111266)
Goga, A. and Stoffel, M. (2022): Therapeutic RNA-silencing oligonucleotides in metabolic diseases. Nature Reviews Drug Discovery (published online). (doi: 10.1038/s41573-022-00407-5)
Publications 2021
Liu, Q., Ge, W., Wang, T., Lan, J., Martínez-Jarquín, S., Wolfrum, C., Stoffel, M., Zenobi, R. (2021): High-throughput Single-cell Mass Spectrometry Reveals Abnormal Lipid Metabolism in Pancreatic Ductal Adenocarcinoma. Angew. Chem. (https://doi.org/10.1002/anie.202107223)
Ge, W., Goga, A., He, Y., Silva, P.N., Hirt, C.K., Herrmanns, K., Guccini, I., Godbersen, S., Schwank, G., and Stoffel, M. (2021): miR-802 Suppress Acinar-to-Ductal Reprogramming during Early Pancreatitis and Pancreatic Carcinogenesis. Gastroenterology, Sept.18, 2021. (https://doi.org/10.1053/j.gastro.2021.09.029)
Velagapudi, S., Rohrer, L., Poti, F., Feuerborn, R., Park, R., Liu, M., Perisa, D., Wau, D., Panteloglou, G., Potapenko, A., Yalcinkaya, M., Parks, J.S., Christoffersen, C., Stoffel, M., Simoni, M., Nofer, J.-R. and von Eckardstein, A. (2021): Apolipoprotein M and sphingosine-1-phosphate receptor 1 promote the transendothelial transport of HDL. Arterioscler. Thromb. Vasc. Biol. ATVBAHA121316725.
LaPierre, M.P., Godbersen, S., Esteban, M.T., Schad, A.N., Treier, M., Ghoshdastider, U. and Stoffel, M. (2021): MicroRNA-7a2 regulates prolactin in developing lactotrophs and prolactinoma cells. Endocrinology 162: bqaa220.
Villiger L, Rothgangl, T., Witzigmann, D., Oka, R., Lin P.J.C., Qi, W., Janjuha, S., Berk, C., Ringnalda, F., Beattie, M.B., Stoffel, M., Thöny, B., Hall, J., Rehrauer, H., van Boxtel, R., Tam, Y.K. and Schwank, G. (2021). Transient in vivo genome base editing enables curative treatment of a monogenic liver disorder without generating substantial RNA- and DNA off-target mutations. Nature Biomedical Engineering 5:179–189.
Rothgangl, T., Dennis, M.K., Lin, P.J.C., Rurika Oka, Witzigmann, D., Villiger, L., Qi, W., Hruzova, M., Kissling, L., Lenggenhager, D., Borrelli, C., Egli, S., Frey, N., Bakker, N., Walker II, J.A., P. Kadina, A.P., Victorov, D.V., Pacesa, M., Kreutzer, S., Kontarakis, Z., Moor, A., Jinek, M., Weissman, D., Stoffel, M., van Boxtel, R., Holden, K., Pardi, N., Thöny, B., Häberle, J., Tam, Y.K., Semple, S., and Schwank, G. (2021). In vivo adenine base editing of PCSK9 in mice and macaques reduces blood cholesterol levels. Nature Biotechnology, doi: 10.1038/s41587-021-00933-4. Online ahead of print.
Goga, A., Yagabasan, B., Herrmanns, K., Godbersen, S., Zünd, M., Furter, M., Schwank, G., Sunagawa, S., Hardt W.-D., and Stoffel, M. (2021). MicroRNA-802 regulates the innate immune response through Paneth cell expansion and Wnt signaling. Nature Commun. 12:3339
Title, A.C., Silva, P.N., Godbersen, S., Hasenöhrl, L., and Stoffel, M. (2021). The miR-200–Zeb1 axis regulates key aspects of β-cell function and survival in vivo. Mol. Metabolism Jun 8;101267. doi: 10.1016/j.molmet.2021.101267. Online ahead of print.
de Jesus, D., Mak, T.C.S., Wang, Y.-F., von Ohlen, Y., Bai, Y., Kane, E., Chabosseau, P., Chahrour, C.M., Distaso, W., Salem, V., Tomas, A., Stoffel, M., Rutter, G.A., and Latreille, M. (2021). Dysregulation of a Pdx1/Ovol2/Zeb2 axis in dedifferentiated b-cells triggers the induction of genes associated with epithelial-mesenchymal transition in diabetes. Mol. Metabolism 12;53:101248. doi: 10.1016/j.molmet.2021.101248. Online ahead of print.
Publications 2020
Kobiita, A., Godbersen, S., Araldi, E., Ghoshdastider, U., Schmid, M.W., Spinas, G., Moch, H., Stoffel, M. (2020). The diabetes gene JAZF1 is essential for the homeostatic control of ribosome biogenesis and function in metabolic stress. Cell Report 32, 107846
Publications 2019
Nikolaou, K.C., Vatandaslar, H., Meyer, C., Schmid, M.W., Tuschl, T., Stoffel, M. (2019): The RNA-binding protein A1CF regulates hepatic fructose and glycerol metabolism via alternative RNA splicing. Cell Reports 29: 283-300, doi: 10.1016/j.celrep.2019.08.100
Xue J., Scotti E., and Stoffel M. (2019): CDK8 regulates insulin secreation and mediates postnatal and stress-induced expression of neuropeptides in pancreatic β cells. Cell Reports 28: 2892-2904, doi: 10.1016/j.celrep.2019.08.025
Publications 2018
Title, A.C., Hong, S.-J., Pires, N.D., Hasenöhrl, L., Godbersen, S., Stokar-Regenscheit, N., Bartel, D.P., Stoffel, M. (2018): Genetic dissection of the miR-200–Zeb1 axis reveals its importance in tumor differentiation and invasion. Nature Commun 9:4671, doi:10.1038/s41467-018-07130-z
Lampert, F., Stafa, D., Goga, A., Soste, M., Gilberto, S., Olieric, N., Picotti, P., Stoffel, M., and Peter, M. (2018): The multi-subunit GID/CTLH E3 ligase promotes proliferation and targets the transcription factor Hbp1 for degradation. Elife 7. pii: e35528. doi: 10.7554/eLife.35528.
Publications 2017
Item, F., Wuest, S., Lemos, V., Stein, S., Lucchini, F.C., Denzler, R., Fisser, M.C., Challa, T.D., Pirinen, E., Kim, Y., Hemmo, S., Gulbins, E., Gross, A., O’Reilly, L.A., Stoffel, M., Auwerx, J., Konrad, D. (2017): Fas cell surface death receptor controls hepatic lipid metabolism by regulating mitochondrial function. Nature Commun 8:480, doi:10.1038/s41467-017-00566-9
LaPierre, M.P., Stoffel, M. (2017): MicroRNAs as stress regulators in pancreatic beta cells and diabetes. Mol. Metabolism 6:1010-1023.
Ahmed, K., LaPierre, M.P., Gasser, E., Denzler, R., Yang, Y., Rülicke, T., Kero, J., Latreille, M., Stoffel, M. (2017): Loss of microRNA-7a2 induces hypogonadotropic hypogonadism and infertility. J Clin Invest. 127:1061-1074.
Publications 2016
Stoffel, M. (2016): Monogenic b-Cell Diabetes: Molecular Genetics, Clinical Manifestations, and Therapy. In: Principles of Diabetes Mellitus, 3rd edition, Editor-in-Chief Leonid Poretsky, M.D, Springer Verlag.
Gasser, E., Johannsen, H.C., Rülicke, T., Zeilhofer, H.U., Stoffel, M. (2016): Foxa1 is essential for development and functional integrity of the subthalamic nucleus. Scientific Reports 6:38611.
Denzler, R., McGeary, S. E., Title, A.C., Agarwal, V., Bartel, D.P., Stoffel, M. (2016): Impact of miRNA Levels, Target-Site Complementarity and Cooperativity on ceRNA-Regulated Gene Expression. Molecular Cell 64:1-15.
Mobin, M.B., Gerstberger, S., Teupser, D., Campana, B., Heim, M.H., Manoharan, M., Tuschl, T., Stoffel, M. (2016): The RNA-binding protein Vigilin is increased in hepatic steatosis and regulates VLDL secretion through modulation of Apob mRNA translation. Nature Commun. 7:12848.
Publications 2015
Salunkhe, V.A., Esguerra, J.L.S., Ofori, J.K., Mollet, I.G., Braun, M., Rorsman, P., Stoffel, M., Wendt, A., Eliasson, L. (2015): Modulation of microRNA-375 expression alters voltage-gated Na+ channel properties and exocytosis in insulin-secreting cells. Acta Physiol (Oxf) 213:882-892.
Belgardt, B.-F., Ahmed, K., Spranger, M., Latreille, M., Denzler, R., Kondratiuk, N., von Meyenn, F., Nunez Villena, F., Herrmanns, K., Bosco, D., Kerr-Conte, J., Pattou, F., Stoffel, M. (2015): The microRNA-200 family regulates pancreatic beta cell survival in type 2 diabetes. Nature Medicine 21:619-627.
Latreille, M., Hermanns, K., Renwick, N., Tuschl, T., Malecki, M.T., McCarthy, M.I., Owen, K. R., Rülicke, T., Stoffel,M. (2015): miR-375 gene dosage in pancreatic β-cells: Implications for regulation of β-cell mass and biomarker development. J. Mol. Med. 93:1159-69.
Title, A.C., Denzler, R., Stoffel, M. (2015): Uptake and function studies of maternal milk-derived microRNAs. J Biol Chem.290:23680-91.
Title, A.C., Denzler, R., Stoffel, M. (2015): Response: Diet-responsive MicroRNAs are Likely Exogenous. J Biol Chem. 290:25198.
Gökbuget, D., Pereira, J.A., Bachofner, S., Marchais, A., Ciaudo, C., Stoffel, M., Schulte, J.H., Suter, U. (2015): The Lin28/let-7 axis is critical for myelination in the peripheral nervous system. Nature Commun. 6:8584-93.
Yesildag, B., Bock, T., Herrmanns, K., Wollscheid, B., Stoffel, M. (2015): Kin of IRRE-like Protein 2 Is A Phosphorylated Glycoprotein That Regulates Basal Insulin Secretion. J. Biol. Chem. 290:25891-906.
Denzler, R., Stoffel, M. (2015): The Long, the Short and the Unstructured: A Unifying Model of pri-miRNA Biogenesis. Molecular Cell 60:4-6.
Publications 2014
Belgardt, B.-F., Stoffel, M. (2014): Sik2 regulates insulin secretion. Nature Cell Biol. 16, 210–212.
Latreille, M., Hausser, J., Stützer, I., Zhan, Q., Hastoy, B., Gargani, S., Kerr-Conte, J., Pattou, F., Zavolan, M., Esguerra, J.L.S., Eliasson, L., Rülicke, T., Rorsman, P., Stoffel, M. (2014): miR-7a regulates pancreatic b-cell function. J Clin Invest. 124:2722-2735.
Gebert, L.F.R., Rebhan, M.A.E., Crivelli, S.E.M., Denzler, R., Stoffel, M., Hall, J. (2014): Miravirsen (SPC3649) can inhibit the biogenesis of miR-122. Nucl Acids Res 42:609-621.
Denzler, R., Agarwal, V., Stefano, J., Bartel, D.P., Stoffel, M. (2014): Quantitative relationship between miRNAs and their targets: Implications for the ceRNA hypothesis. Mol Cell 54:766-776.
Sutter, I., Park, R., Othman, A., Rohrer, L., Hornemann, T., Stoffel, M., Devuyst, O., von Eckardstein, A. (2014): Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate. J Lipid Res. Jun 20. pii: jlr.M050021.
Rechsteiner, M.P., Floros, X., Boehm, B.O., Marselli, L., Marchetti, P., Stoffel, M., Moch, H., Spinas, G.A. (2014): Automated assessment of β-cell area and density per islet and patient using TMEM27 and BACE2 immunofluorescence staining in human pancreatic β-cells. PLoS One 9:e98932.
Busskamp, V., Krol, J., Nelidova, D., Daum, J., Szikra, T., Tsuda, B., Jüttner, J., Farrow, K., Scherf, B.G., Alvarez, C.P., Genoud, C., Sothilingam, V., Tanimoto, N., Stadler, M., Seeliger, M., Stoffel, M., Filipowicz, W., Roska, B. (2014): miRNAs 182 and 183 Are Necessary to Maintain Adult Cone Photoreceptor Outer Segments and Visual Function. Neuron 896:6273-8288.
Publications 2013
Kornfeld, J.-W, Baitzel, C., Könner, A.C., Nicholls, H.T., Vogt, M.C., Herrmanns, K., Scheja, L., Haumaitre, C., Wolf, A.M., Knippschild, U., Seibler, J., Cereghini, S., Heeren, J., Stoffel, M. Brüning, J.C. (2013): Obesity-Induced Overexpression of miR-802 Impairs Glucose Metabolism Via Silencing of Tcf2. Nature 494:111-115.
von Meyenn, F., Porstmann, T., Gasser, E., Selevsek, N., Schmidt, A., Aebersold, R., Stoffel, M. (2013): Glucagon-induced Acetylation of FoxA2 regulates hepatic lipid metabolism. Cell Metabolism 17:436-447.
Murdock, D., Salit, J., Stoffel, M., Friedman, J.M., Pe'er, I., Breslow, J.L., Bonnen, P.E. (2013) Longitudinal study shows increasing obesity and hyperglycemia in Micronesia. Obesity 21:421-427.
Mughal, S.A., Park, R., Nowak, N., Gloyn, A.L., Karpe, F., Matile, H., Malecki, M.T., McCarthy, M.I., Stoffel, M., Owen, K.R. (2013) Apolipoprotein M can discriminate HNF1A-MODY from Type 1 diabetes. Diabet Med. 30:246-250.
Stützer, I., Selevsek, N., Esterházy, D., Schmidt, A., Aebersold, R., Stoffel, M. (2013): Systematic proteomic analysis identifies β-site amyloid precursor protein cleaving enzyme 2 and 1 (BACE2 and BACE1) substrates in pancreatic β-cells. J Biol Chem. 288:10536-47.
Sabidó, S., Wu, Y., Bautista, L., Porstmann, T., Chang, V., Vitek, O., Stoffel, M., Aebersold, R. (2013): Targeted proteomics analysis of the insulin-pathway and central metabolism reveals substantial, strain-specific proteome changes after sustained high-fat diet in C57B6/J and 129Sv mice. Mol Syst Biol. 9:681.
Publications 2012
Krützfeldt J., Rösch N., Hausser J., Manoharan M., Zavolan M., Stoffel M. (2012): MicroRNA-194 is a Target of Hepatocyte Nuclear Factor-1a in Adult Liver and Controls Expression of Frizzled-6. Hepatology 55:98-107.
Esterházy, D., Akpinar, P., Stoffel, M. (2012): Tmem27 dimerisation, deglycosylation, plasma membrane depletion, and the extracellular Phe-Phe motif are negative regulators of cleavage by Bace2. Biol Chem. 393:473-484.
Stützer, I., Esterházy, D., Stoffel, M. (2012): The pancreatic beta cell surface proteome. Diabetologia 55:1877-1889.
Vats, D., Wang, H., Esterhazy, D., Dikaiou, K., Honer, M., Danzer, C., Stuker, F., Matile, H., Fischer, E., Keist, R., Ripoll, J., Krek, W., Schibli, R., Migliorini, C., Stoffel, M., Rudin, M. (2012): Multimodal imaging of pancreatic β-cells in vivo by targeting the cell surface receptor TMEM27. Diabetologia 55:2407-2416.
Nakayama T, Butler JS, Sehgal A, Severgnini M, Racie T, Sharman J, Ding F, Morskaya SS, Brodsky J, Tchangov L, Kosovrasti V, Meys M, Nechev L, Wang G, Peng CG, Fang Y, Maier M, Rajeev KG, Li R, Hettinger J, Barros S, Clausen V, Zhang X, Wang Q, Hutabarat R, Dokholyan NV, Wolfrum C, Manoharan M, Kotelianski V, Stoffel M, Sah DW. (2012): Harnessing a physiologic mechanism for siRNA delivery with mimetic lipoprotein particles. Mol Ther. 20:1582-1589.
Trajkovski, M., Ahmed,, K., Christine C. Esau, C.C., Stoffel, M. (2012): MyomiR-133 Regulates Brown Fat Differentiation through PRDM16. Nature Cell Biol. 14:1330-1335.
Publications 2011
Kenny, E.E., Kim, M., Gusev, A., Lowe, J.K., Salit, J., Smith, J.G., Kovvali, S., Kang, H.M., Newton-Cheh, C., Daly, M.J., Stoffel, M., Altshuler, D.M., Friedman, J.M., Eskin, E., Breslow, J.L., Pe'er, I. (2011): Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. Hum Mol Genet. 20:827-39.
Esterházy, D., Stützer, I., Wang, H., Beaucamp, J., Döbeli, H., Hilpert, H., Schmidt, A., Aebersold, R., Migliorini, C., Stoffel, M. (2011): Bace2 is a b-cell enriched protease that regulates pancreatic b-cell function and mass. Cell Metab. 14:365-377.
Trajkovski, M., Hausser, J., Soutschek, J., Bhat, B., Akin, A., Zavolan, M., Heim, M.H., Stoffel, M. (2011): MicroRNAs-103 and -107 regulate insulin sensitivity. Nature 474:649-653.
Azzouzi, I., Winkler, J., Moest, H., Fauchère, J-C., Gerber, A. P., Wollscheid, B., Stoffel, M., Schmugge, M., Speer O. (2011): Fine-tuning of g-globin expression by microRNA-96. PLoS ONE 6:e22838.
Rohrer, L., Hornemann, T., Stoffel, M., Rentsch, K.M., von Eckardstein, A. (2011): Plasma levels of sphingosine-1-phosphate and apolipoprotein M in patients with monogenic disorders of HDL metabolism. Atherosclerosis 219:855-63.
Gusev, A., Shah, M. J., Kenny, E. E., Ramachandran, A., Lowe, J. K., Salit, J., Lee, C. C., Levandowsky, E. C., Weaver, T. N., Doan, Q. C., Peckham, H. E., McLaughlin, S. F., Lyons, M. R., Sheth, V. N., Stoffel, M., De La Vega, F. M., Friedman, J. M., Breslow, J. L., Pe'er, I. (2011): Low-pass Genome-wide Sequencing and Variant Imputation Using Identity-by-descent in an Isolated Human Population. Genetics 190:679-689.
Publications 2010
Krützfeldt, J. and Stoffel, M. (2010): Regulation of Wnt signalling in pancreatic islets from wildtype and obese mice. Diabetologia 53:123-127.
Cramer, N.P., Best, T.K., Stoffel, M., Siarey, R.J., Galdzicki, Z. (2010): GABAB – GIRK2 Mediated Signaling in Down Syndrom. Adv Pharmacol. 58:397-426.
Publications 2009
Poy, M.N., Hausser, J., Trajkowski, M., Braun, M., Collins, S., Rorsman, P., Zavolan, M., Stoffel, M. (2009): miR-375 maintains normal pancreatic a- and b-cell mass. Proc. Natl. Acad. Sci. U.S.A. 106:5813-5818.
Gusev, A., Lowe, J.K., Stoffel, M., Daly, M.J., Altshuler, D., Breslow, J.L., Friedman, J.M., Pe'er, I. (2009): Whole population, genome-wide mapping of hidden relatedness. Genome Res. 19:318-326.
Smith, J.G., Lowe, J., Kovvali, S., Julian Maller, J., Salit, J., Daly, M., Stoffel, M., Altshuler, D., Friedman, J., Breslow, J., Newton-Cheh, C. (2009): Genomewide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. Heart Rhythm 6:634-641.
Bonnen, P.E., Lowe, J.K., Altshuler, D.M., Breslow, J.L., Stoffel, M., Friedman, J.M., Pe’er, L. (2010): European admixture on the Micronesian island of Kosrae: lessons from complete genetic information. Eur. J. Hum. Genet. 18:309-316.
Howell, J. and Stoffel, M. (2009): Nuclear export-independent inhibition of Foxa2 by insulin. J. Biol. Chem. 284:24816-24824.
Kenny, E.E., Gusev, A., Riegel, K., Luetjohann, D., Lowe, J.K., Salit, J., Maller, J.B., Stoffel, M., Daly, M.J., Altshuler D.M., Friedman,F., Breslow, J.L., Pe'er, I., Sehayek, E. (2009): Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae. Proc. Natl. Acad. Sci. U.S.A. 106:13886-13891.
Silva, J.P., von Meyenn, F., Howell, J.J., Thorens, B., Wolfrum C., Stoffel, M. (2009): Insulin-regulated, hypothalamic Foxa2 activity mediates metabolic and behavioral responses to fasting. Nature 462:646-650.
Publications 2008
Yi, R., Poy, M.N., Stoffel, M. and Fuchs, E. (2008): A skin microRNA promotes differentiation by repressing stemness. Nature 452:225-229.
Wolfrum, C., Howell, J. Stoffel, M. (2008): Foxa2 activity increases plasma HDL levels by regulating apolipoprotein M. J. Biol. Chem. 283:16940-16949.
Burkhardt, R., Kenny, E.E., Birkeland, A., Josowitz, R., Noel, M., Salit, J., Lowe, J.K., Pe’er, I., Daly, M.J., Altshuler, D., Stoffel, M., Friedman, J.M., Breslow, J.L. (2008): Common SNPs in HMGCR in Micronesians and Caucasians associated with LDL-cholesterol levels affect alternative splicing of exon13. Arterioscler. Thromb. Vasc. Biol. 28:2078-84.
Stoffel, M. (2009): Maturity-onset diabetes of the young: Molecular genetics, clinical manifestations and therapy. In “The Principles of Diabetes Mellitus”, Chapter 3, 2nd Edition, eds. Leonid Poretzki, Kluwer Publishing.
Yi, R., Pasollia, A., Landthaler, M., Hafner, M., Ojoa, T., Sheridand R., Sander C., O’Carroll, D., Stoffel, M., Tuschl, T., and Fuchs, E. (2009): DGCR8-dependent microRNA biogenesis is essential for skin development. Proc. Natl. Acad. Sci. U.S.A. 106: 498-502.
Lowe, J.K., Maller, J.B., Pe’er, I.G., Neale, M., Salit, J., Shea, J.L., Noel, M., Kenny, E., Ji, W., Foo, J.N., Lifton, R.P., Breslow, J.L., Stoffel, M., Daly, M.J., Altshuler, D.M., Friedman, J.M. (2008): Whole-genome association studies in an inbred, isolated population from the Pacific island of Kosrae. PLoS Genet. 5:e1000365.
Publications 2007
Okada, T., Liew, C.W., Hu, J., Hinault, C., Michael, M.D., Krützfeldt, J., Yin, C., Holzenberger M., Stoffel, M., Kulkarni, R.N. (2007): Insulin receptors in b-cells are critical for islet compensatory growth response to insulin resistance. Proc. Natl. Acad. Sci. U.S.A. 104:8977-8982.
Krützfeldt, J., Kuwajima, S., Braich, R., Kallanthottathil G. R., Pena, J., Tuschl, T., Manoharan, M., Stoffel, M. (2007): Specificity, duplex cleavage and subcellular localization of antagomirs. Nucleic Acids Research 35:2885-2892.
Wolfrum, C., Shi, S., Jayaprakash, K. N., Jayaraman, M., Wang, G., Pandey, R. K., Rajeev, K. G., Nakayama, T., Charrise, K., Ndungo, E. M., Zimmermann, T., Kotelianski, V., Manoharan, M., Stoffel, M. (2007): Mechanisms of in vivo delivery of lipophilic siRNAs. Nature Biotechnology 25:1149-1157.
John M., Constien R., Akinc, A., Goldberg, M., Moon, Y-A., Spranger, M., Hadwiger, P., Soutschek, J., Vornlocher, H-P., Manoharan, M., Stoffel, M., Langer, R., Anderson, D.G., Horton, J.D., Kotelianski, V., Bumcrot, D. (2007): Effective RNAi mediated gene silencing without interruption of the endogenous miRNA pathway. Nature 449:745-748.
Poy, M.N., Spranger, M., and Stoffel, M. (2007): microRNAs and the regulation of glucose and lipid metabolism. Diabetes Obes Metab. 9 S2:67-73.
Publications 2006
Shmulewitz D, Auerbach, S.B., Blundell, M.L., Youngman, L.D., Skilling, V., Heath, S.C., Ott, J., Breslow, J.F., Stoffel, M., Friedman, J.M. (2006): A genome wide screen and genetic linkage analysis for obesity, type II diabetes, hypertension, and dyslipidemia (Syndrome X) on the island of Kosrae, Federated States of Micronesia. Proc. Natl. Acad. Sci. U.S.A. 103:3502-3509.
Bonnen, P.E., Pe’er, I., Plenge, R., Salit, J., Breslow, J.F., Daly, M.J., Reich, D., Jones, K., Stoffel, M., Altshuler, D., Friedman, J. (2006): Evaluating potential for whole genome studies in Kosrae - an isolated population in Micronesia. Nature Genetics 38:214-217.
Wolfrum, C. and Stoffel, M. (2006): Coactivation of Foxa2 through Pgc1beta promotes liver fatty acid oxidation and triglyceride/VLDL secretion. Cell Metabolism 3:99-110.
Harashima, C., Jacobowitz, D.M., Stoffel, M., Haydar, T.F., Siarey, R.J., Galdzicki, Z. (2006): Elevated expression of the G-protein activated inwardly rectifying potassium channel 2 (Girk2) in unipolar brush cells (UBCs) of Down Syndrome mouse model. Cell Mol Neurobiol. 26:717-732.
Krützfeldt, J., Poy, M., Stoffel, M. (2006): Approaches to study the function of microRNAs. Nature Genetics 38:S14-S19.
Krützfeldt, J. and Stoffel, M. (2006): MicroRNAs: a new class of regulatory genes affecting metabolism. Cell Metabolism 4:9-12.
Publications 2005
Gao, N., Ishii, K., Mirosevich, J., Kuwajima, S., Oppenheimer, S., Roberts, R., Jiang, M., Shappell, S., Caprioli, R., Stoffel, M., Hayward, S., Matusik, R. (2005): Defective Ontogenesis in Foxa1-null Prostates. Development 132:3431-3443.
Krek, A., Grün, D., Poy, M.N., Wolf, R. Rosenberg, L., MacMenamin, P., da Piedade, I., Gunsalus, K., Stoffel, M., Rajewsky N. (2005): Combinatorial microRNA target predictions. Nature Genetics 37:495-500.
Wolfrum, C., Poy, M.N., Stoffel, M (2005): Apolipoprotein M is required for preb-HDL formation, reverse cholesterol efflux to HDL and protects against atherosclerosis. Nature Medicine 11:418-422.
Costa, A.C.S., Stasko, M.R., Stoffel, M., Scott-McKean, J.J. (2005): G protein-gated potassium channels containing the GIRK2 subunit are molecular hubs for pharmacologically-induced hypothermic responses. J Neurosci. 25:7801-7804.
Krützfeldt, J., Rajewsky, N. Braich, R., Rajeev, K.G., Tuschl, T., Manoharan, M., Stoffel, M. (2005): Silencing of microRNAs in vivo with “antagomirs”. Nature 438:685-689.
Akpinar, P., Kuwajima, S., Krützfeldt, J., and Stoffel, M. (2005): Tmem27: a cleaved and secreted transmembrane protein that stimulates pancreatic b-cell proliferation. Cell Metabolism 2:385-397.
Publications 2004
Otani, K., Kulkarni, R.N., Baldwin, A.C., Kreuzfeldt, J., Ueki, K., Stoffel, M., Kahn, C.R., and Polonsky, K.S. (2004): Impaired insulin secretory function in mice with pancreatic beta-cell knockout of the insulin receptor. Am J Physiol Endocrinol Metab. 286: E41-E49.
Marker, C., Stoffel, M., Wickman, K. (2004): Spinal G-protein-gated K+channels formed by GIRK1 and GIRK2 subunits modulate thermal nociception and contribute to morphine analgesia. J Neurosci. 24: 2806-2812.
Melloul, D. and Stoffel, M. (2004): Regulation of transcriptional coactivator PGC-1b. Science PAGE. 9: 9-10.
Cruz, H.G., Ivanova, T., Lunn, M.L., Stoffel, M., Slesinger, P.A., Luscher, C. (2004): Bi-directional effects of GABA(B) receptor agonists on the mesolimbic dopamine system. Nature Neuroscience 7: 153-9.
Vallier, L., Pedersen, R, Stoffel, M. (2004): Navigating the Pathway from Embryonic Stem Cells to Beta Cells: Towards a perfect beta cell replacement, in Seminars in Cell and Developmental Biology, Editor Phillipe Halban 15:327-336.
Kulkarni, R.N., Roper, M., Shih, D.Q., Kennedy, R.T., Stoffel, M., Kahn, C.R. (2004): Islet secretory defect in IRS-1 null mice is linked with reduced calcium signaling and expression of SERCA-2b and –3. Diabetes 53:1517-1525.
George, S., Rochford, J.J., Wolfrum, C., Gray, S.L., Schinner, S., Wilson, J.C., Soos, M.A., Murgatroyd, P.R., Williams, R.M., Acerini, C.L., Dunger, D.B., Barford, D., Umpleby, A.M., Wareham, N.J., Davies, H.A., Schafer, A.J., Stoffel, M., O’Rahilly, S., Barroso, I. (2004): Human insulin resistance and diabetes mellitus due to a missense mutation in AKT2. Science 304:1325-1328.
Sehayek, E., Yu, H.J., von Bergmann, K., Lutjohann, D., Duncan, E.M., Stoffel, M., Gracia, L.N., Salit, J., Blundell, M., Friedman, J.M., Breslow, L.L. (2004): Phytosterolemia on the Island of Kosrae: A founder effect for a novel ABCG8 mutation results in a high carrier rate and increased plasma plant sterol levels. J. Lipid Res. 45:1608-1613.
Wolfrum, C., Asilmaz, E., Luca, E., Friedman, J.M., Stoffel, M. (2004): Foxa2 regulates glucose and fatty acid metabolism in the liver during starvation and in diabetes. Nature 432:1027-1032.
Poy, M.N., Eliasson, L., Krützfeldt, J., Kuwajima, S., Tuschl, T., Rajewsky, N., Rorsman, P., Stoffel, M. (2004): A pancreatic islet-specific miRNA regulates insulin secretion. Nature 432:226-230.
Publications 2003
Blednov, Y.A., Stoffel, M., Alva, H., Harris, R.A. (2003): A pervasive mechanism for analgesia: activation of GIRK2 channels. Proc Natl Acad Sci U S A 100:277-282.
Lee, V. and Stoffel, M. (2003): Bone marrow: An extra-pancreatic hideout for the elusive pancreatic stem cell? J. Clin. Invest. 111:799-801.
Morgan, A.D., Carroll, M.E., Loth, A.K., Stoffel, M. and Wickmann, K. (2003): Decreased cocaine self-administration in Kir3 potassium channel subunit knockout mice. Neuropsychopharmacology 28:932-938.
Mitrovic, I., Margeta-Mitrovic, M., Bader, S., Stoffel, M., Jan, L.Y., Basbaum, A.I. (2003): Contribution of GIRK2-mediated postsynaptic signaling to opiate and alpha 2-adrenergic analgesia and analgesic sex differences. Proc Natl Acad Sci U S A 100:271-276.
Wolfrum, C., Shih, D.Q., Kuwajima, S., Norris, A., Kahn C.R., and Stoffel, M. (2003) Role of Foxa-2 in obesity, hyperinsulinemia and adipocyte differentiation. J. Clin. Invest. 112:345-356.
Wolfrum, C., Besser, D., Luca, E., Stoffel, M. (2003): Insulin regulates the transcriptional activity of forkhead transcription factor Hnf-3b/Foxa-2 by Akt-mediated phosphorylation. Proc Natl Acad Sci U S A 100: 11624-11629.
Richter, S., Shih, D.Q., Pearson, E., Wolfrum, C., Fajans, S.S., Hattersley, A., Stoffel, M. (2003): Regulation of Apolipoprotein M Gene Expression by MODY3 Gene Hepatocyte Nuclear Factor–1a: Haploinsufficiency is associated with reduced serum apoM levels. Diabetes 52: 2989-2995.
Khodorova, A., Navarro, B., Jouaville, L.S., Murphy, J.E., Rice, F.L., Mazurkiewicz, J.E., Long-Woodward, D., Stoffel, M., Strichartz, G.R., Yukhananov, R., Davar, G. (2003): Endothelin-B receptor activation triggers an endogenous analgesic cascade at sites of peripheral injury. Nature Medicine 9: 1055-1061.
Publications 2002
Blednov, Y.A., Stoffel, M., Cooper, R., Wallace, D., Mane, N., Adron Harris, R. (2002): Hyperactivity and activation of dopamine D1 in mice lacking GIRK2 channels. Psychopharmacology 159:370-378.
Kulkarni, R.N., Holzenberger, M., Shih, D.Q., Ozcan U, Stoffel, M., Magnuson M.A., Kahn, C.R. (2002): b-cell-specific IGF-1 receptor knockout leads to hyperinsulinemia and glucose intolerance but does not alter b-cell mass. Nature Genetics 31:111-115
Z. Han, S.C. Heath, D. Shmulewitz, W. Li, S.B. Auerbach, M.L. Blundell, T. Lehner, J. Ott, M. Stoffel, J.M. Friedman, J.L. Breslow (2002): Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia. Am. J. Med. Genet. 110:234-242.
Shih, D.Q., Stoffel, M. (2002): Molecular etiologies of MODY and other early-onset forms of diabetes. Current Diabetes Reports 2:125-134.
Shih, D.Q., Heimesaat, M., Kuwajima, S., Stein, R., Wright, C., Stoffel, M. (2002): Pancreatic b-cell defects in mice with combined heterozygous mutations in the genes encoding Pdx-1, Hnf-1a and Hnf-3b. Proc Natl Acad Sci U S A. 99:3818-3823.
Shih, D.Q. & Stoffel, M. (2001): Dissecting the transcriptional network in pancreatic-b-cells. Proc Natl Acad Sci USA. 98:14189-14191
Stoffel, M. (2002): Maturity-onset diabetes of the young: Molecular genetics, clinical manifestations and therapy. In “The Principles of Diabetes Mellitus”, eds. Leonid Poretzki, Kluwer Publishing.
Boileau, P., Wolfrum, C., Shih, Q.S., Yang, T.-A., Wolkoff A.W., Stoffel, M. (2002): Decreased clearance of glibenclamide in HNF-1a-deficient mice: a mechanism for hypersensitivity to sulfonylurea therapy in MODY3 patients. Diabetes 51:S343-348.
Torrecilla, M., Marker, C.L., Cintora, S.C., Stoffel, M., Wessendorf, M., Williams, J.T., Wickman, K. (2002): G-protein gated potassium channels containing GIRK2 and GIRK3 subunits mediate the acute opioid inhibition of locus coeruleus neurons. J. Neuroscience 22:4328-4334.
Marker, C.L., Cintora, S.C., Roman, M.I., Stoffel, M., Wickman, K. (2002): Hyperalgesia and blunted morphine analgesia in G protein-gated potassium channel subunit knockout mice. Neuroreport 13:2509-13.
Publications 2001
Shih, D.Q., Screenan, S., Munoz, N.K., Phillipson, L., Pontoglio, M., Yaniv, M., Polonsky, K.S., Stoffel, M. (2001): Loss of HNF-1a function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism. Diabetes 50, 2472-2480.
Shih, D.Q., Bussen, M., Sehayek, E., Ananthanarayanan,M., Shneider, B.L., Suchy, F.J., Breslow, F.L., Stoffel, M. (2001): HNF-1a is an essential regulator of bile acid and plasma cholesterol metabolism. Nature Genetics 27:375-383.
Blednov, Y.A., Stoffel, M., Chang, S. R., Adron Harris, R. (2001): Potassium channels as targets for ethanol: Studies of GIRK2 null mutant mice. J. Pharmacol. & Exp. Therap. 298:298-530.
Blednov, Y.A., Stoffel, M., Chang, S. R., Adron Harris, R. (2001): GIRK2-deficient mice: Evidence for hyperactivity and reduced anxiety. Physiology & Behavior 74:109-117.
Publications 2000
Stein, R., Gerrish, K., Gannon, M., Shih, D., Henderson, E., Stoffel, M., Wright, C.V.E. (2000): Pancreatic beta cell-specific transcriptionof the pdx-1 gene: The role of conserved upstream control regions and their HNF-3 sites. J. Biol. Chem. 275:3485-3492.
Shih, D., Dansky, H., Fleischer, N., Assmann, G., Fajans, S.S., Stoffel, M. (2000): Genotype/ Phenotype Relationships in HNF-4a/MODY1 Diabetes: Haploinsufficiency is associated with reduced apolipoprotein AII serum levels. Diabetes 49:832-837.
Navas, M.A., Vaisse, C., Boger, S., Kollee L.A., Stoffel, M. (2000): Mutation screening of HNF-3 genes in early- and late-onset type 2 diabetes mellitus. Human Heredity 50:370-381.
Stoffel, M. (2000): The Role of the Hepatocyte Nuclear Factor Network in Glucose Homeostasis, in "Molecular Basis of Pancreas Endocrine Development and Function", editors: M A. Hussain, C.P. Miller, J. F. Habener, Kluwer Academic Publishers (2001)
Shmulewitz D, Auerbach, S.B., Lehner, T., Blundell, M.L., Winnick, J, Youngman, L.D., Skilling, V., Heath, S.C., Ott, J., Stoffel, M., Breslow, J.F., Friedman, J.M. (2000): Epidemiology and factor analysis of obesity, type II diabetes, hypertension, and dyslipidemia (Syndrome X) on the island of Kosrae, Federated States of Micronesia. Human Heredity 51:8-19.
Publications 1998
Stoffel, M. and Jan, L.Y. (1998): Epilepsy genes: Excitement traced to K+-channels. N&V Nature Genetics 18:6-8.
Duncan, S.A., Navas, M.A., Dufort, D., Rossant, J., Stoffel, M. (1998): HNF-3a and HNF-3ß regulate a transcription factor network which is critical for cell differentiation and metabolism. Science 281:692-695.
Publications 1999
Navas, M.A., Munoz-Elias, E.J., Kim, J., Shih, D., Stoffel, M. (1999): Functional analysis of the MODY1 mutations HNF4(R127W), HNF4(V255M) and HNF4(E276Q). Diabetes 48:1459-1465.
Wang, P.W., Eisenbart, J.D., Barsh, G.S., Stoffel, M., Le Beau, M.M. (1999): Human MAFB: cDNA cloning, genomic structure and evaluation as a candidate tumor suppressor gene in myeloid leukemias. Genomics 59:275-281.
Stoffel, M. (1999): The role of the hepatocyte nuclear factor network in maturity-onset diabetes of the young (MODY). In“Frontiers of Insulin secretion and Pancreatic ß-Cell Research”, edited by F. Matschinsky.
Shih, D., Navas, M.A., Kuwajima, S., Duncan, S., Stoffel, M. (1999): Impaired glucose homeostasis and neonatal mortality in HNF-3a deficient mice. Proc Natl Acad Sci USA. 96:10152-10157.
Stoffel, M. (1999): Diabetes Research in the Next Millennium. Can. J. Diabetes Care
Publications 1997
Signorini, S., Liao, Y.J., Duncan, S., Jan, L.Y., and Stoffel, M. (1997): Mice lacking G protein-coupled inwardly-rectifying K+-channel GIRK2 are susceptible to seizures but have normal midbrain and cerebellum. Proc Natl Acad Sci USA. 94:923-927.
Vionnet, N., Hani, E.H., Lesage, S., Philippi, A, Hager, J., Mathilde Varret, M., Stoffel, M., Tanizawa, Y., Chiu, K.C., Glaser, B., Permutt, A., Bell, G.I., Passa, P., Demenais, F., Froguel, F. (1997): Mapping NIDDM Genes: Studies with 19 candidate genes in 600 French affected sib-pairs. Diabetes 46:1062-1068.
Wang, P.W., Iannantuoni, K., Davies, E.M., Espinosa III, R., Stoffel, M. and Le Beau, M.M. (1997): Refinement of the commonly deleted segment in myeloid leukemias with a deletion on chromosome 20q. Genes, Chromosomes and Cancer 21:75-81.
Vaisse, C., Kim, J., Espinosa III, R., Le Beau, M.M., and Stoffel, M. (1997): Pancreatic Islet Expression studies and polymorphic DNA markers in the genes encoding hepatocyte nuclear factors HNF-3a, HNF-3b, HNF-3g, HNF-4g, and HNF-6. Diabetes 46:1364-1367.
MacDonald, M.J., Brown, L.J., Hasan, N.M., Stoffel, M., Dills, D.G. (1997): Single stranded conformational polymorphism analysis of the mitochondrial glycerol phosphate dehydrogenase gene in patients with non-insulin-dependent diabetes mellitus. Diabetes 46:1660-1662.
Stoffel, M. (1998): Molecular basis for non-insulin dependent diabetes mellitus. In “Molecular Basis of Heart Disease”, A companion to Braunwald’s Heart Disease, Ed. K.R.Chien, W.B.Saunders.
Stoffel, M. and Duncan, S.A. (1997): The MODY1 transcription factor HNF4a regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci USA. 94:13209-13214.
Slesinger, P.A., Stoffel, M., Jan, Y.N. and Jan, L.Y. (1997): Defective GABAB receptor activated inwardly rectifying K+ currents in cerebellar granule cells isolated from weaver and GIRK2 knockout mice. Proc Natl Acad Sci USA. 94:12210-12217.
Lüscher, C., Jan, L.Y., Stoffel, M., Malenka, R.C. and Nicoll, R.A. (1997): Role of G-protein coupled inwardly rectifying K+ channels for transmitter actions in hippocampal neurons. Neuron 19:687-695.
Publications 1996
Warren-Perry, M.G., Stoffel, M., Saker, P.J., McDonald, M.J. and Turner, R.C. (1996): Mitochondrial FAD-glycerolphosphate dehydrogenase and G protein-coupled inwardly rectifying K+-channel GIRK1 - No evidence for linkage in MODY or NIDDM. Diabetes 45:639-642.
Brown, L.J., Stoffel, M., Fernald, A.A., Moran, S.M., Lehn, D.A., Le Beau, M.M. and MacDonald, M.J. (1996): Structural organization and mapping of the mitochondrial glycerol phosphate dehydrogenase gene and pseudogene. Gene 172: 309-312.
Stoffel, M., LeBeau M., EspinosaIII, R., Bohlander, S., LePaslier, D., Cohen, D., Xiang, K.-S, Fajans, S.S. and Bell, G.I. (1996): A YAC-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. Proc Natl Acad Sci USA 93:3937-3941.
Maffei, M., Stoffel, M., Barone, M., Moon, B., Dammerman, M., Ravussin, E., Bogardus, C., Ludwig, D., Flier, J., Talley, M., Auerbach, S. and Friedman, J.M. (1996): Absence of mutations in the human ob gene in obese/diabetic subjects. Diabetes 45:679-683.
Stoffel, M., Karayiorgou, M., EspinosaIII, R. and Le Beau, M.M. (1996): The human mitochondrial citrate transporter gene maps to chromosome 22q11 within a region implicated in DiGeorge syndrome, velo-cardia-facial syndrome and schizophrenia. Hum Genetics 98:113-115.
Vaisse, C., Hallaas J.L., Horvath, C.M., Darnell Jr, J.E., Stoffel, M., and Friedman J.M. (1996): Leptin mediated activation of Stat3 in the hypothalamus of wild type and ob/ob mice but not db/db mice. Nature Genetics 14:95-97.
Winick, J.D., Stoffel, M. and Friedman, J.M. (1996): Human Leptin Receptor Gene: Localization and integration into the physical and genetic map of chromosome 1. Genomics 36:221-222.
Yamagata, K., Furuta H., Oda, N., Kaisaki, P., Menzel, S., Cox, N.J., Fajans, S.S., Signorini, S., Stoffel, M. and Bell, G.I. (1996): Mutations in hepatic nuclear factor 4 alpha gene in maturity-onset diabetes of the young (MODY1). Nature 384:458-460.
Publications 1995
Stoffel, M., Stein, R., Espinosa III, R., Le Beau, M.M., and Bell, G.I. (1995): The human homeodomain transcription factor XIHbox 8/STF-1 gene is located on chromosome band 13q12.1. Genomics 28: 125-126.
Wilson, W.D., Ollmann, M.M., Kang, L., Stoffel, M., Bell, G.I. and Barsh, G.S. (1995): Structure and function of ASP, the human homologue of the mouse agouti gene. Hum Mol Genet. 2: 223-230.
Tokuyama, Y., Sturis, J., DePaoli, A.M., Takeda, J., Stoffel, M., Tang, J., Sun, X., Polonsky, K.S., and Bell, G.I. (1995): Evolution of b-cell dysfunction in the male Zucker diabetic fatty rat. Diabetes 44: 1447-1458.
Stoffel, M., Tokuyama, Y., Trabb, J., Tsaar, M.L., German, M.S., Jan, L.Y., Polonsky, K., Bell, G.I. (1995): Cloning and Expression Studies of an Islet ATP-Sensitive K+-Channel in Normal and Zucker Diabetic Fatty Rats. Biochem. Biophys. Res. Com. 212: 894-899.
Stoffel, M., Fernald, A.A., Le Beau, M.M. and Bell, G.I. (1995): Assignment of the gastric inhibitory polypeptide receptor gene (GIPR) to chromosome bands 19q13.2-q13.3 by fluorescence in situ hybridization. Genomics 28:607-609.
Zhang, Y., Warren-Perry, M., Sakura, H., Adelman, J., Stoffel, M., Bell, G.I., Ashcroft, F.M., Turner, R. (1995): No evidence for mutations in the putative ß-cell ATP-sensitive K+-channel in MODY, NIDDM, or GDM. Diabetes 44:597-599.
El-Maghrabi, M.R., Lange, A.J., Jiang, W., Yamagata, K., Stoffel, M., Takeda, J., Fernald, A.A., Le Beau, M.M., Bell, G.I., Baker, L. and Pilkis, S.J. (1995): Human fructose-1,6-biphosphatase gene (FGBP1): Exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-biphosphatase deficiency. Genomics 27:520-525.
Zhang, Y., Warren-Perry, M., Saker, P.J., Hattersley, A.T., Mackie, A.D.R., Baird, J.D., Greenwood, R.H., Stoffel, M., Bell, G.I., Turner, R.C. (1995): Candidate gene studies in pedigrees with maturity-onset diabetes of the young characterizedby more severe diabetes than that associated with glucokinase mutations. Diabetologia 38: 1055-1060.
Publications 1994
Vaxillaire, M., Vionnet, N., Vigouroux, C., Sun, F., Espinosa III, R., Le Beau, M.M., Stoffel, M., Letho, M., Detheux, M., Passa, P., Cohen, D., Van Schaftingen, E., Velho, G., Bell, G.I. and Froguel, P. (1994): Search for a third susceptibility gene for maturity-onset diabetes of the young: studies with eleven candidate genes. Diabetes 43: 389-395.
Byrne, M.M., Sturis, J., Clement, K., Vionnet, N., Pueyo, M.E., Stoffel, M., Takeda, J., Passa, P., Cohen, D., Bell, G.I., Velho, G., Froguel, P., and Polonsky, K.S. (1994): Insulin secretion abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest. 93:1120-1130.
Menzel, S., Stoffel, M., Espinosa III, R., Le Beau, M.M. and Bell G.I. (1994): Localization of glucagon receptor gene to human chromosome band 17q25. Genomics 20:327-328.
Stoffel, M., Espinosa III, R., Powell, K.L., Phillipson, L.H., Le Beau, M.M. and Bell, G.I. (1994): Human G-protein coupled inwardly rectifying potassium channel (GIRK1) gene (KCNF3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism. Genomics 21:154-256.
Zhang, Y., Cook, J.Y.E., Hattersley, A.T., Forth, R., Saker, P.J., Warren-Perry, M., Stoffel, M. and Turner, R.C. (1994): Non-linkage of the glucagon-like peptide receptor gene with maturity onset diabetes of the young. Diabetologia 37: 721-724.
Bell, G.I., Byrne, M.M., Stoffel, M., Sturis, J., Takeda, J., and Polonsky, K.S. (1994): Glucokinase deficient diabetes mellitus: a subtype of non-insulin-dependent (Type 2) diabetes mellitus characterized by a defect in glucose-stimulated insulin secretion. In Proceedings of the Fourth International Symposium on Treatment of Diabetes Mellitus: Pathogenesis and Treatment of NIDDM and its related Problems, Sakamoto, N., Alberti, K.G.M.M. and Hotta, N. Elsevier, Amsterdam, pp91-98.
Takeda, J., Stoffel, M., Vionnet, N., Xiang, K.S., Yano, H., Clement, K., Velho, G., Froguel, P., Byrne, M., Sturis, J., Polonsky, K.S., and Bell, G.I. (1994): Glucokinase mutations and impaired insulin secretion.: New insights into the pathogenesis of NIDDM. In“Frontiers of Insulin secretion and Pancreatic ß-Cell Research”, edited by Flatt, P.R.
Stoffel, M. and Bell, G.I. (1994): Glukokinase Defekte bei Patienten mit jugendlichem, nicht insulinabhängigem Diabetes mellitus. Deutsches Ärzteblatt 42:2853-2857.
DePaoli, A.M., Bell, G.I. and Stoffel, M. (1994): Distribution of G-protein activated inwardly rectifying potassium channel (GIRK1/KGA) mRNA in adult rat brain and heart by in situ hybridization histochemistry. Mol Cell Neurosci 5:515-522.
Stoffel, M., Espinosa III, R., Trabb, J.B., Le Beau, M.M., and Bell, G.I. (1994): Human type I pituitary adenylate cyclase activating polypeptide recepror (ADCYAP1R): localization to chromosome band 7p14 and integration into the cytogenetic, physical and genetic map of chromosome 7. Genomics 23:697-699.
Byrne , M.M., Sturis, J., Stoltz, A., Oritz, F.J., Stoffel, M., Smith, M.J., Bell, G.I., Fajans, S.S., Halter, J.B. and Polonsky, K.S. (1994): Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. Diabetes 44:699-705.
Tsaar, M.L., Menzel, S., Lai, F.P., Espinosa III, R., Concannon, P., Spielman, R.S., Hanis, C.L., Cox, N.J., Le Beau, M.M., German, M.S., Jan, L.Y., Bell, G.I., and Stoffel, M. (1994): Isolation of a cDNA clone encoding a KATP-channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies in Mexican Americans with NIDDM. Diabetes 44:592-59
Publications 1993
Stoffel, M. and Bell, G.I.1993. Characterization of a third simple tandem repeat polymorphism in the human glucokinase gene. Diabetologia 36:170-171.
Froguel, P., Zouali, H., Vionnet, N., Velho, G., Vaxillaire, M., Sun, F., Lesage, S., Stoffel, M., Takeda, J., Passa, P., Permutt, M.A., Beckmann, J.S., Bell, G.I. and Cohen, D.1993. Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 328:697-702.
Yamada, Y., Stoffel, M., Espinosa III, R., Xiang, K., Seino, M., Seino, S., Le Beau, M.M., and Bell, G.I. 1993. Human somatostatin receptor genes: localization to human chromosomes 14, 17, and 22, and identification of simple tandem repeat polymorphisms. Genomics 15:449-452.
Gidh-Jain, M., Takeda, J., Wu, L.Z., Lange, A.J., Vionnet, N., Stoffel, M., Froguel, P., Velho, G., Sun, F., Cohen, D., Patel, P., Lo, Y-M.D., Hattersley, A.YT., Luthman, H., Wedell, A., St. Charles, R., Harrison, R.W., Weber, I.T., Bell, G.I. and Pilkis, S.J. 1993. Glucokinase mutations associated with non-insulin dependent (Type 2) diabetes mellitus have decreased enzymatic activity: Implications for structure/function relationships. Proc Natl Acad Sci USA 90:1932-1936.
Letho, M., Stoffel, M., Groop, L., Espinosa III, R., Le Beau, M.M. and Bell, G.I. 1993. Assignment of the gene encoding glycogen synthase (GYS) to human chromosome 19, bands q13.3. Genomics 15:460-461.
Stoffel, M., Espinosa III, R., Keller, S.R., Lienhard, G.E., Le Beau, M.M.,and Bell, G.I. (1993): Human insulin receptor substrate-1 gene (IRS1): Chromosomal localization to 2q35-q36.1 and identification of a simple tandem repeat DNA polymorphism. Diabetologia 36:335-337.
Stoffel, M., Xiang, K.S., Espinosa III, R., Cox, N.J., and Bell, G.I. (1993): cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, Band q13.31: PCK is not tightly linked to maturity-onset diabetes of the young. Hum Mol Genet 2:1-4.
Bell, G.I. Froguel, P., Nishi, S., Pilkis, S.J., Stoffel, M., Takeda, J., Vionnet, N. and Yasuda, K. (1993): Mutations in the human glucokinase gene and diabetes mellitus. Trends Endocrinol Metab 4:86-90.
Stoffel, M., Bell, K.L., Blackburn, C.L., Powell, K.L., Seo, T.S., Takeda, J., Vionnet, N., Xiang, K.S., Gidh-Jain, M., Pilkis, S.J., Ober, C. and Bell, G.I. (1993): Identification of glucokinase mutations in subjects with gestational diabetes mellitus. Diabetes 42:937-940.
Stoffel, M., Espinosa III, R., Le Beau, M.M. and Bell, G.I. (1993): Human glucagon-like peptide-1 receptor gene: localization to chromosome band 6p21 by fluorescence in situ hybridization and linkage of a highly polymorphic simple tandem repeat DNA polymorphism to other markers on chromosome 6. Diabetes 42:1215-1218.
Takeda, J., Gidh-Jain, M., Xu, L.Z., Froguel, P., Velho, G., Vaxillaire, M., Cohen, D., Shimada, F., Makino, H., Nishi, S., Stoffel, M., Vionnet, N., St. Charles, R., Harrison, R.W., Weber, I.T., Bell, G.I. and Pilkis, S.J. (1993): Structure/function studies of human ß-cell glucokinase: enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants. J Biol Chem 268:15200-15204.
Letho, M., Xiang, K., Stoffel, M., Espinosa III, R., Groop, L.C., Le Beau, M.M. and Bell, G.I. (1993): Human hexokinase II: localization of the polymorphic gene to chromosome 2. Diabetologia 36:1299-1302.
Roulston, D., Espinosa III, R., Stoffel, M., Bell, G.I. and Le Beau, M.M. (1993): Molecular genetics of myeloid leucemia: identification of the commonly deleted segment of chromosome 20. Blood 82:3424-3439.
Publications 1992
Heberlein, C., Fischer, K.D., Stoffel, M., Nowock, J., Ford, A., Tessmer, U. and Stocking C. 1992. The gene for erythropoetin receptor is expressed in multipotential hematopoetic and embryonal stem cells: evidence for differentiation stage-specific regulation. Mol Cell Biol 12:1815-1826.
Kaye, J., Browne, H., Stoffel, M. and Minson, T. 1992. The UL16 gene of human cytomegalovirus encodes a glycoprotein that is dispensable for growth in vitro. J Virol 66:6609-6615.
Nishi, S., Stoffel, M., Xiang, K., Shows, T.B., Bell, G.I. and Takeda, J. 1992. Human pancreatic ß-cell glucokinase: cDNA sequence and localization of the polymorphic gene to chromosome 7, band 7p13. Diabetologia 35:743-747.
Stoffel, M. and Bell, G.I.: 1992. Microsatellite polymorphism in the human platelet glycoprotein IIIa (GP3A) on chromosome 17. Nucleic Acids Res 20:1172-1173.
*Vionnet, N., *Stoffel, M., Takeda, J., Yasuda, K., Bell, G.I., Zouali, H., Lesage, S., Velho, G., Iris, F., Passa, P., Froguel, P., and Cohen, D. 1992. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356:721-722. (*auhors contributed equally)
Stoffel, M., Patel, P., Lo, Y-M.D., Hattersley, A.T., Lucassen, A.M., Page, R., Bell, J.I., Bell, G.I., Turner, R.C. and Wainscoat, J.S. 1992. Characterization of a missense glucokinase mutation in maturity-onset diabetes of the young (MODY) and mutation screening in late-onset diabetes. Nature Genetics 2:153-156.
Stoffel, M., Froguel, P., Takeda, J., Zouali, H., Nionnet, N., Nishi, S., Weber, IT., Harrison, R.W., Pilkis, S.J., Lesage, S., Vaxillaire, M., Velho, G., Sun, F., Iris, F., Passa, P., Cohen, D. and Bell, G.I.. 1992. Human glucokinase gene: Isolation, characterization and identification of two missense mutations linked to early-onset non-insulin-dependent (Type 2) diabetes mellitus. Proc Natl Acad Sci USA 89:7698-7702.
Stoffel, M., Xiang, K., and Bell, G.I. 1992. Dinucleotide repeat polymorphism at the human ribophorin II locus (RPN2) on chromosome 20q. Hum Mol Genet 1:656-666.