Associated Papers
Mechanistic insights into Bcs1-mediated mitochondrial membrane translocation of the folded Rieske protein.
Rosales-Hernandez C et al.
The Embo Journal, 2025
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.
Al Qurashi M et al.
Bmc Medical Genomics, 2022
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O et al.
Annals of Clinical and Translational Neurology, 2021
Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.
Cañadas-Garre M et al.
Frontiers in Genetics, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Jackson CB et al.
European Journal of Pediatrics, 2016
A Turkish BCS1L mutation causes GRACILE-like disorder.
Serdaroğlu E et al.
The Turkish Journal of Pediatrics, 2016
Nuclear gene mutations as the cause of mitochondrial complex III deficiency.
Fernández-Vizarra E et al.
Frontiers in Genetics, 2015
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
Siddiqi S et al.
Journal of Human Genetics, 2013
Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.
Ezgu F et al.
Gene, 2013
Bcs1p can rescue a large and productive cytochrome bc(1) complex assembly intermediate in the inner membrane of yeast mitochondria.
Conte L et al.
Biochimica Et Biophysica Acta, 2011
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.
Morán M et al.
Human Mutation, 2010
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
Ramos-Arroyo MA et al.
Clinical Genetics, 2009
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.
Fellman V et al.
Journal of Human Genetics, 2008
Mitochondrial hepatopathies: advances in genetics and pathogenesis.
Lee WS et al.
Hepatology (baltimore, Md.), 2007
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Fernandez-Vizarra E et al.
Human Molecular Genetics, 2007
Renal pathology in children with mitochondrial diseases.
Martín-Hernández E et al.
Pediatric Nephrology (berlin, Germany), 2005
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
De Meirleir L et al.
American Journal of Medical Genetics. Part A, 2003
[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