Associated Papers
A Case Report of INI1 Loss and SMARCB1 Mutation in Hereditary Succinate Dehydrogenase-Deficient Renal Cell Carcinoma.
Nguyen T et al.
International Journal of Surgical Pathology, 2025
Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis.
Melli B et al.
Experimental and Therapeutic Medicine, 2025
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders.
Zheng J et al.
Frontiers in Molecular Neuroscience, 2023
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L et al.
Journal of Medical Genetics, 2022
Model systems in SDHx-related pheochromocytoma/paraganglioma.
Takács-Vellai K et al.
Cancer Metastasis Reviews, 2021
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
Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation.
Santi R et al.
Anticancer Research, 2017
SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.
Saxena N et al.
Journal of the National Cancer Institute, 2016
Instability of succinate dehydrogenase in SDHD polymorphism connects reactive oxygen species production to nuclear and mitochondrial genomic mutations in yeast.
Chang YL et al.
Antioxidants & Redox Signaling, 2015
Succinate dehydrogenase subunit B mutations modify human neuroblastoma cell metabolism and proliferation.
Rapizzi E et al.
Hormones & Cancer, 2014
The role of complex II in disease.
Hoekstra AS et al.
Biochimica Et Biophysica Acta, 2013
Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.
Piccini V et al.
Endocrine-related Cancer, 2012
Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor.
Goffrini P et al.
Human Molecular Genetics, 2009