ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

Autoimmune Disease, Multisystem, with Facial Dysmorphism (ADMFD) is an autosomal recessive disorder due to pathogenic variants in the ITCH gene. It is characterized by failure to thrive, dysmorphic facial features, developmental delay, and systemic autoimmunity that can manifest variably with autoim...

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Bibliographic Details
Main Authors: Rachel Wolfe, Paige Heiman, Olivia D'Annibale, Anuradha Karunanidhi, Alyssa Powers, Marianne Mcguire, Bianca Seminotti, Steven F. Dobrowolski, Miguel Reyes-Múgica, Kathryn S. Torok, Al-Walid Mohsen, Jerry Vockley, Lina Ghaloul-Gonzalez
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
ITCH
Autoimmune disease
Ubiquitination
Apoptosis
E3 ligase
Mitochondrial dysfunction
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000921

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http://www.sciencedirect.com/science/article/pii/S2214426922000921

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