Associated Papers
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
van der Ven AT et al.
Molecular Genetics and Metabolism, 2023
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
Baertling F et al.
Molecular Genetics and Metabolism, 2017
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.
Giachin G et al.
Frontiers in Molecular Biosciences, 2016
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
Molecular base of biochemical complex I deficiency.
Hoefs SJ et al.
Mitochondrion, 2012
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.
Pagniez-Mammeri H et al.
Molecular Genetics and Metabolism, 2012
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.
Nouws J et al.
Brain : a Journal of Neurology, 2012
Mitochondrial disorders caused by mutations in respiratory chain assembly factors.
Diaz F et al.
Seminars in Fetal & Neonatal Medicine, 2011
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A et al.
American Journal of Human Genetics, 2009
Select a paper to view details