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ea0070aep281 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

The MAFA gene mutation responsible for familial insulinomatosis and diabetes impairs insulin secretion and results in downregulation of critical cell cycle regulators

Iacovazzo Donato , Thong Lim Chung , Quezado Rosana , Drummond Juliana , Antonio de Sousa Barros Fernando , Cuenco Joyceline , Brändle Michael , Walker Emily , Guo Min , Collier David , Khan Faraz , Wang Jun , Tan Tricia , Ellard Sian , Stein Roland , Korbonits Marta

The islet-enriched transcription factor MAFA regulates the expression of genes critical to beta cell function and insulin secretion. We previously described anovel MAFA mutation (c.191C > T, p.S64F) causing familial insulinomatosis and diabetes mellitus, with male carriers more often developing diabetes and females more prone to insulinomatosis. The exact molecular mechanisms underlying these phenotypes are unclear. In this study, we assessed glucose metabolism an...

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The MAFA gene mutation responsible for familial insulinomatosis and diabetes impairs insulin secretion and results in downregulation of critical cell cycle regulators

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