Associated Papers
A Novel Human SDHA-Knockout Cell Line Model for the Functional Analysis of Clinically Relevant SDHA Variants.
Kent JD et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Structure of the human respiratory complex II.
Du Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
WILMS TUMOR MUTATIONAL SUBCLASSES CONVERGE TO DRIVE CCND2 OVEREXPRESSION.
Xu L et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.
Nicolas E et al.
Molecular Genetics & Genomic Medicine, 2019
Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells.
Bénit P et al.
Plos One, 2019
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Casey RT et al.
Molecular Genetics & Genomic Medicine, 2017
Corrigendum: inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.
Xiao M et al.
Genes & Development, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy.
Ma YY et al.
Brain & Development, 2014
Structural basis for malfunction in complex II.
Iverson TM et al.
The Journal of Biological Chemistry, 2012
Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.
Xiao M et al.
Genes & Development, 2012
Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.
Mbaya E et al.
Cell Death and Differentiation, 2010
Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples.
Goncalves S et al.
Bmc Biochemistry, 2010
Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.
Brière JJ et al.
American Journal of Physiology. Cell Physiology, 2006
Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.
Brière JJ et al.
Human Molecular Genetics, 2005
Succinate dehydrogenase deficiency in human.
Brière JJ et al.
Cellular and Molecular Life Sciences : Cmls, 2005
Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.
Favier J et al.
Hormone Research, 2005
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.
Van Coster R et al.
American Journal of Medical Genetics. Part A, 2003
A role for mitochondrial enzymes in inherited neoplasia and beyond.
Eng C et al.
Nature Reviews. Cancer, 2003
Cytopathies involving mitochondrial complex II.
Ackrell BA
Molecular Aspects of Medicine, 2002
Phenotypic dichotomy in mitochondrial complex II genetic disorders.
Baysal BE et al.
Journal of Molecular Medicine (berlin, Germany), 2001
The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.
van den Heuvel L et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2001
Survey of human mitochondrial diseases using new genomic/proteomic tools.
Plasterer TN et al.
Genome Biology, 2001
The genetic basis of isolated mitochondrial complex II deficiency.
Fullerton M et al.
Molecular Genetics and Metabolism, 0