Associated Papers
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
Orbach R et al.
Annals of Clinical and Translational Neurology, 2025
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Clinical and Pathological Heterogeneity in FSGS due to INF2 Mutations.
Morales-Alvarez MC et al.
Kidney International Reports, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O et al.
Annals of Clinical and Translational Neurology, 2021
A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.
Liu X et al.
Medicine, 2020
Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.
Wang H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Falco M et al.
American Journal of Medical Genetics. Part A, 2017
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
Zhang J et al.
Gene, 2015
Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
Fernández-Vizarra E et al.
Frontiers in Genetics, 2015
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene.
Yanagishita T et al.
The British Journal of Dermatology, 2014
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Miyake N et al.
Human Mutation, 2013
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
Hinson JT et al.
The New England Journal of Medicine, 2007
[Complex III deficiency due to mutations in the cytochrome b gene].
Ishii A et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases.
Meunier B et al.
Biochimica Et Biophysica Acta, 0