Associated Papers
New Insights into the Clinical Characterization of SDHAF2-related Familial Paraganglioma Syndrome.
Fernandez-Pombo A et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.
Ambulkar KS et al.
Endocrine Connections, 2025
SDHAF2 facilitates mitochondrial respiration through stabilizing succinate dehydrogenase and cytochrome c oxidase assemblies.
Chen CL et al.
Mitochondrion, 2024
SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers.
de Jong MAM et al.
Case Reports in Otolaryngology, 2024
Hypothesis: Why Different Types of SDH Gene Variants Cause Divergent Tumor Phenotypes.
Bayley JP et al.
Genes, 2022
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Richter S et al.
Endocrine-related Cancer, 2022
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
Tinnitus With Unexpected Spanish Roots: Head and Neck Paragangliomas Caused by SDHAF2 Mutation.
Roose LM et al.
Journal of the Endocrine Society, 2020
A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant.
Wolf KI et al.
Journal of the Endocrine Society, 2019
Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.
Gieldon L et al.
Cancers, 2019
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma.
Muth A et al.
Journal of Internal Medicine, 2019
Human diseases associated with defects in assembly of OXPHOS complexes.
Ghezzi D et al.
Essays in Biochemistry, 2018
The emerging role and targetability of the TCA cycle in cancer metabolism.
Anderson NM et al.
Protein & Cell, 2018
Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.
Dwight T et al.
Bmc Cancer, 2017
Mitochondrial Complex II: At the Crossroads.
Bezawork-Geleta A et al.
Trends in Biochemical Sciences, 2017
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Hoekstra AS et al.
Oncotarget, 2017
The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.
Bezawork-Geleta A et al.
The Journal of Biological Chemistry, 2016
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Hoekstra AS et al.
Oncotarget, 2015
Models of parent-of-origin tumorigenesis in hereditary paraganglioma.
Hoekstra AS et al.
Seminars in Cell & Developmental Biology, 2015
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).
Papathomas TG et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015
Genetic testing in the clinical care of patients with pheochromocytoma and paraganglioma.
Rana HQ et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2014
Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.
Bezawork-Geleta A et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014
Structural basis for malfunction in complex II.
Iverson TM et al.
The Journal of Biological Chemistry, 2012
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
Piccini V et al.
Endocrine-related Cancer, 2012
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.
Hensen EF et al.
Clinical Genetics, 2012
Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.
Ghezzi D et al.
Advances in Experimental Medicine and Biology, 2012
Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.
Hensen EF et al.
Clinical Endocrinology, 2011
Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC).
Müller U
Neurogenetics, 2011
Recent advances in the genetics of SDH-related paraganglioma and pheochromocytoma.
Hensen EF et al.
Familial Cancer, 2011
SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.
Kunst HP et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011
Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism.
Starker LF et al.
Endocrine, 2010
Succinate dehydrogenase - Assembly, regulation and role in human disease.
Rutter J et al.
Mitochondrion, 2010
Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?
Bayley JP et al.
Current Opinion in Genetics & Development, 2010
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
Bayley JP et al.
The Lancet. Oncology, 2010
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.
Hao HX et al.
Science (new York, N.y.), 2009
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
Fishbein L et al.
Cancer Genetics, 0