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Novel Germline SUCLG2 Mutations in Patients With Pheochromocytoma and Paraganglioma
2021
Journal of the Endocrine Society
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors derived from neural crest cells that are frequently linked to mutations including those in Krebs cycle enzymes, particularly succinate dehydrogenase (SDH). Succinyl-CoA ligase (SUCL) catalyzes reversible conversion of succinyl-CoA to succinate providing the substrate for SDH. While mitochondrial diseases were documented for the mutations in SUCL subunits G1 and A2, the association of GDP/GTP-specific subunit SUCLG2
doi:10.1210/jendso/bvab048.340
fatcat:ve2qv7myljcbfifquphfyhidqy