Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders-Reference-Cited by-同舟云学术

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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

Published:2024-06 Issue:6 Volume:26 Page:101117
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Armirola-Ricaurte Camila^ORCID,Zonnekein Noortje,Koutsis Georgios,Amor-Barris Silvia,Pelayo-Negro Ana Lara,Atkinson Derek,Efthymiou Stephanie,Turchetti Valentina,Dinopoulos Argyris,Garcia Antonio,Karakaya Mert,Moris German,Polat Ayşe Ipek,Yiş Uluç,Espinos Carmen,Van de Vondel Liedewei,De Vriendt Els,Karadima Georgia,Wirth Brunhilde,Hanna Michael,Houlden Henry,Berciano Jose,Jordanova Albena^ORCID

Funder

Horizon 2020

DFG

FP7

ABMM

AFM-Téléthon

Wellcome Trust

BBSRC

Brain Research UK

Michael J Fox Foundation for Parkinson's Research

ERDF

Rosetrees Trust

Fidelity Foundation

Ataxia UK

FWO

Publisher

Elsevier BV

Reference57 articles.

1. NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect;Baertling;Clin Genet,2018

2. Understanding mitochondrial complex I assembly in health and disease;Mimaki;Biochim Biophys Acta,2012

3. NDUFS6 related Leigh syndrome: a case report and review of the literature;Rouzier;J Hum Genet,2019

4. Accessory NUMM (NDUFS6) subunit harbors a Zn-binding site and is essential for biogenesis of mitochondrial complex I;Kmita;Proc Natl Acad Sci U S A,2015

5. Mammalian mitochondrial Complex I structure and disease-causing mutations;Fiedorczuk;Trends Cell Biol,2018

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