A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes

A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes

<p>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...

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Bibliographic Details
Main Author: Joanne M. Hildebrand (9407235) (author)
Other Authors: Bernice Lo (3441317) (author), Sara Tomei (3441323) (author), Valentina Mattei (6561395) (author), Samuel N. Young (14152599) (author), Cheree Fitzgibbon (9407253) (author), James M. Murphy (448752) (author), Abeer Fadda (170269) (author)
Published: 2021
Subjects:
Biological sciences
Biochemistry and cell biology
Genetics
Biomedical and clinical sciences
Clinical sciences
Medical biochemistry and metabolomics
Diabetes
Necroptosis
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