Associated Papers
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M et al.
American Journal of Human Genetics, 2024
38423010 (PubMed )
Supplement: mmc1.pdf
Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.
Dar GM et al.
Ageing Research Reviews, 2023
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.
Ugarteburu O et al.
Mitochondrion, 2020
Molecular basis of Leigh syndrome: a current look.
Schubert Baldo M et al.
Orphanet Journal of Rare Diseases, 2020
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
Baertling F et al.
European Journal of Human Genetics : Ejhg, 2017
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.
Giachin G et al.
Frontiers in Molecular Biosciences, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells.
Marcus D et al.
Molecular Medicine (cambridge, Mass.), 2013
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.
Pagniez-Mammeri H et al.
Molecular Genetics and Metabolism, 2012
Mitochondrial disorders caused by mutations in respiratory chain assembly factors.
Diaz F et al.
Seminars in Fetal & Neonatal Medicine, 2011
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