Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

@article{Malecki1999MutationsIN,
  title={Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus},
  author={Maciej T Malecki and Ulupi S. Jhala and Anthony Antonellis and Liz Fields and Alessandro Doria and Tiham{\'e}r Orb{\'a}n and Mohammed Bahaa Eldeen Ahmed Saad and James H. Warram and Marc R. Montminy and Andrzej S Krolewski},
  journal={Nature Genetics},
  year={1999},
  volume={23},
  pages={323-328}
}
The helix-loop-helix (HLH) protein NEUROD1 (also known as BETA2) functions as a regulatory switch for endocrine pancreatic development. In mice homozygous for a targeted disruption of Neurod, pancreatic islet morphogenesis is abnormal and overt diabetes develops due in part to inadequate expression of the insulin gene (Ins2). NEUROD1, following its heterodimerization with the ubiquitous HLH protein E47, regulates insulin gene (INS) expression by binding to a critical E-box motif on the INS… CONTINUE READING
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