Associated Papers
NDUFA1 p.Gly32Arg variant in early-onset dementia.
Huttula S et al.
Neurobiology of Aging, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
Kim C et al.
Neurochemistry International, 2017
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
Stroud DA et al.
Nature, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
Uehara N et al.
Annals of Clinical and Translational Neurology, 2014
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
Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis.
Voets AM et al.
Biochimica Et Biophysica Acta, 2012
Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.
Morán M et al.
Biochimica Et Biophysica Acta, 2010
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
Potluri P et al.
Molecular Genetics and Metabolism, 2009
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
Fernandez-Moreira D et al.
Annals of Neurology, 2007
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