Associated Papers
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH et al.
Genome Medicine, 2025
40400026 (PubMed )
Supplement: 13073_2025_1467_MOESM1_ESM.xlsx › VC_validation_cohort
Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.
Kalantari S et al.
American Journal of Medical Genetics. Part A, 2025
Insights into complex I assembly: Function of NDUFAF1 and a link with cardiolipin remodeling.
Schiller J et al.
Science Advances, 2022
36383672 (PubMed )
Supplement: sciadv.add3855_sm.pdf
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
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
Understanding mitochondrial complex I assembly in health and disease.
Mimaki M et al.
Biochimica Et Biophysica Acta, 2012
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
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H et al.
European Journal of Human Genetics : Ejhg, 2011
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE et al.
Nature Genetics, 2010
20818383 (PubMed )
Supplement: NIHMS228290-supplement-2.xls › per_sample
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
Dunning CJ et al.
The Embo Journal, 2007
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