A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

Iron‑sulfur clusters (FeSCs) are vital components of a variety of essential proteins, most prominently within mitochondrial respiratory chain complexes I-III; FeS assembly and distribution is performed via multi-step pathways. Variants affecting several proteins in these pathways have been describe...

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Bibliographic Details
Main Authors: Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
NFS1
Iron‑sulfur clusters
Mitochondrial disease
Intra-familial variability
Hot-spot variant
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301452

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http://www.sciencedirect.com/science/article/pii/S2214426920301452

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