Associated Papers
Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.
Charoenngam N et al.
European Journal of Endocrinology, 2025
Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.
Meossi C et al.
Clinical Genetics, 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
Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.
Wu H et al.
Cancer Communications (london, England), 2022
Cardiac disruption of SDHAF4-mediated mitochondrial complex II assembly promotes dilated cardiomyopathy.
Wang X et al.
Nature Communications, 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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
The role of complex II in disease.
Hoekstra AS et al.
Biochimica Et Biophysica Acta, 2013
Complex II deficiency--a case report and review of the literature.
Jain-Ghai S et al.
American Journal of Medical Genetics. Part A, 2013
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
The mutations associated with dilated cardiomyopathy.
Parvari R et al.
Biochemistry Research International, 2012
Infantile mitochondrial encephalopathy.
Uziel G et al.
Seminars in Fetal & Neonatal Medicine, 2011
Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.
Rampersaud E et al.
Progress in Pediatric Cardiology, 2011
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
Levitas A et al.
European Journal of Human Genetics : Ejhg, 2010
Succinate dehydrogenase - Assembly, regulation and role in human disease.
Rutter J et al.
Mitochondrion, 2010
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.
Pagnamenta AT et al.
Molecular Genetics and Metabolism, 2006
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
The genetic basis of isolated mitochondrial complex II deficiency.
Fullerton M et al.
Molecular Genetics and Metabolism, 0