Article
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Human mutation - 1 Dec 2022
Pavlova Elena V, Lev Dorit, Michelson Marina, Yosovich Keren, Michaeli Hila Gur, Bright Nicholas A, Manna Paul T, Dickson Veronica Kane, Tylee Karen L, Church Heather J, Luzio J Paul, Cox Timothy M
Abstract excerpt
A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane-tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of mucopolysaccharidosis. Electron and confocal microscopy,...
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