NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

(2017) Fabian Baertling et al.   MOLECULAR GENETICS AND METABOLISM

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

A guide to diagnosis and treatment of Leigh syndrome

(2013) F. Baertling et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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(2013) Dana Marcus et al.   MOLECULAR MEDICINE

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

(2012) Hue-Tran Hornig-Do et al.   EMBO JOURNAL

Early complex I assembly defects result in rapid turnover of the ND1 subunit

(2012) O. Zurita Rendon et al.   HUMAN MOLECULAR GENETICS

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

(2011) Ann Saada et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

(2009) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

(2008) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS