A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes
Abstract 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 substitutio...
Main Authors: | Joanne M. Hildebrand, Bernice Lo, Sara Tomei, Valentina Mattei, Samuel N. Young, Cheree Fitzgibbon, James M. Murphy, Abeer Fadda |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2021-04-01
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Series: | Cell Death and Disease |
Online Access: | https://doi.org/10.1038/s41419-021-03636-5 |
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