Associated Papers
Mitochondrial Genetics in Cardiovascular Health and Disease: A Scientific Statement From the American Heart Association.
Fetterman JL et al.
Circulation, 2025
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
Assembly of mitochondrial succinate dehydrogenase in human health and disease.
Cao K et al.
Free Radical Biology & Medicine, 2023
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
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing.
Xing J et al.
Open Life Sciences, 2023
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Lai THT et al.
Healthcare (basel, Switzerland), 2022
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Sturrock BRH et al.
Molecular Genetics & Genomic Medicine, 2021
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
Zehavi Y et al.
Metabolic Brain Disease, 2021
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.
Pantaleo MA et al.
Frontiers in Oncology, 2021
The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.
Sharma P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance.
Bannon AE et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Dual loss of succinate dehydrogenase (SDH) and complex I activity is necessary to recapitulate the metabolic phenotype of SDH mutant tumors.
Lorendeau D et al.
Metabolic Engineering, 2017
Mitochondrial Complex II: At the Crossroads.
Bezawork-Geleta A et al.
Trends in Biochemical Sciences, 2017
MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation.
Schaefer IM et al.
Nature Communications, 2017
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
Courage C et al.
American Journal of Medical Genetics. Part A, 2017
FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.
Shi E et al.
Journal of Translational Medicine, 2016
Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression.
Tang CM et al.
Oncotarget, 2016
Structural basis for malfunction in complex II.
Iverson TM et al.
The Journal of Biological Chemistry, 2012
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
The genetic basis of isolated mitochondrial complex II deficiency.
Fullerton M et al.
Molecular Genetics and Metabolism, 0