Components of the endocytic and recycling trafficking pathways interfere with the integrity of the Legionella‐containing vacuole
Sign Up to like & getrecommendations! Published in 2020 at "Cellular Microbiology"
DOI: 10.1111/cmi.13151
Abstract: Legionella pneumophila requires the Dot/Icm translocation system to replicate in a vacuolar compartment within host cells. Strains lacking the translocated substrate SdhA form a permeable vacuole during residence in the host cell, exposing bacteria to… read more here.
Keywords: endocytic recycling; vacuole integrity; sdha mutant; sdha ... See more keywords
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108355
Abstract: SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours. Most SDHA PGV carriers present with an apparently sporadic… read more here.
Keywords: surveillance; pgv carriers; sdha; clinical practice ... See more keywords
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update
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DOI: 10.3390/genes14030646
Abstract: Loss of function of the succinate dehydrogenase complex characterizes 20–40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes… read more here.
Keywords: deficient gists; germline mutations; loss; sdha ... See more keywords