Associated Papers
NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.
Mahesan A et al.
Pediatric Neurology, 2024
Analysis of compound heterozygous and homozygous mutations found in peripheral subunits of human respiratory Complex I, NDUFS1, NDUFS2, NDUFS8 and NDUFV1, by modeling in the E. coli enzyme.
Alkhaldi HA et al.
Mitochondrion, 2023
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Zanette V et al.
Genetics and Molecular Biology, 2021
Disease-causing mutations in subunits of OXPHOS complex I affect certain physical interactions.
Barshad G et al.
Scientific Reports, 2019
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
Varghese F et al.
Human Molecular Genetics, 2015
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
Marin SE et al.
Gene, 2013
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