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

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 als...

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Detalles Bibliográficos
Autores principales: Hildebrand, Joanne M., Lo, Bernice, Tomei, Sara, Mattei, Valentina, Young, Samuel N., Fitzgibbon, Cheree, Murphy, James M., Fadda, Abeer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016849/
https://www.ncbi.nlm.nih.gov/pubmed/33795639
http://dx.doi.org/10.1038/s41419-021-03636-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8016849/
https://www.ncbi.nlm.nih.gov/pubmed/33795639
http://dx.doi.org/10.1038/s41419-021-03636-5

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