A recurring

Hot-spot variant Intra-familial variability Iron‑sulfur clusters Mitochondrial disease NFS1

Journal

Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422

Informations de publication

Date de publication:
Mar 2021
Historique:
received: 20 12 2020
accepted: 20 12 2020
entrez: 18 1 2021
pubmed: 19 1 2021
medline: 19 1 2021
Statut: epublish

Résumé

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

Identifiants

pubmed: 33457206
doi: 10.1016/j.ymgmr.2020.100699
pii: S2214-4269(20)30145-2
pmc: PMC7797929
doi:

Types de publication

Journal Article

Langues

eng

Pagination

100699

Informations de copyright

© 2020 The Authors.

Déclaration de conflit d'intérêts

JS and CG-J are full-time employees of the Regeneron Genetics Center and receive stock options as part of compensation. All other authors have no conflicts to declare.

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Auteurs

Tova Hershkovitz (T)

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

Alina Kurolap (A)

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

Galit Tal (G)

Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

Tamar Paperna (T)

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.

Adi Mory (A)

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.

Jeffrey Staples (J)

Regeneron Genetics Center, Tarrytown, NY, USA.

Karlla W Brigatti (KW)

Clinic for Special Children, Strasburg, PA, USA.

Claudia Gonzaga-Jauregui (C)

Regeneron Genetics Center, Tarrytown, NY, USA.

Elena Dumin (E)

The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Department of Clinical Biochemistry, Rambam Health Care Campus, Haifa, Israel.

Ann Saada (A)

Department of Genetics, Hadassah Medical Center and The Faculty of Medicine, Hebrew University, Jerusalem, Israel.

Hanna Mandel (H)

Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

Hagit Baris Feldman (H)

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

Classifications MeSH