A variant of uncertain significance in SDHAF1, the succinate dehydrogenase chaperone protein, in an adult patient with spastic paraparesis and leukoencephalopathy.
Sign Up to like & getrecommendations! Published in 2021 at "Multiple sclerosis and related disorders"
DOI: 10.1016/j.msard.2021.103132
Abstract: Succinate dehydrogenase (SDH), or respiratory complex II, consists of four nuclear-encoded subunits. The chaperone protein succinate dehydrogenase assembly factor 1 (SDHAF1) plays an essential role in the assembly of SDH, and in the incorporation of… read more here.
Keywords: chaperone protein; uncertain significance; variant uncertain; sdhaf1 ... See more keywords
Ablation of the Chaperone Protein ERdj5 Results in a Sjögren's Syndrome-Like Phenotype in Mice, Consistent With an Upregulated Unfolded Protein Response in Human Patients
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2019.00506
Abstract: Objective: Sjögren's syndrome (SS) is a chronic autoimmune disorder that affects mainly the exocrine glands. Endoplasmic reticulum (ER) stress proteins have been suggested to participate in autoimmune and inflammatory responses, either acting as autoantigens, or… read more here.
Keywords: protein; protein erdj5; gren syndrome; chaperone protein ... See more keywords