Article
A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes.
Cell death & disease - 1 Apr 2021
Hildebrand Joanne M, Lo Bernice, Tomei Sara, Mattei Valentina, Young Samuel N, Fitzgibbon Cheree, Murphy James M, Fadda Abeer
Abstract excerpt
Maturity-onset diabetes of the young, MODY, is an autosomal dominant disease with incomplete penetrance. In a family with multiple generations of diabetes and several early onset diabetic siblings, we found the previously reported P33T PDX1 damaging mutation. Interestingly, this substitution was also present in a healthy sibling. In contrast, a second very rare heterozygous damaging mutation in the necroptosis...
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