Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.
Abstract
DNAJC3, a co-chaperone of BiP, is a member of the heat shock protein family. These proteins are produced in the endoplasmic reticulum (ER) to counter cell stress resulting from healthy functional protein processing. Dysregulation of unfolded proteins within the ER is implicated as a mechanism of genetic disease. Examples include Marinesco-Sjogren and Wolcott-Rallison syndromes that share similar clinical features, manifesting neurodegenerative...
Paper Details
Title
Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.
Published Date
Oct 15, 2021
Journal
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