Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
until further notice
SourceNature Genetics, 40, 1, (2008), pp. 32-34
Article / Letter to editor
Display more detailsDisplay less details
SubjectDCN 1: Perception and Action; DCN 2: Functional Neurogenomics; DCN 3: Neuroinformatics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 4: Glycostation disorders; IGMD 8: Mitochondrial medicine; NCMLS 1: Immunity, infection and tissue repair; NCMLS 4: Energy and redox metabolism; NCMLS 6: Genetics and epigenetic pathways of disease; UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolism
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. The mutations result in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment of Golgi trafficking in fibroblasts from affected individuals. These results indicate that the a2 subunit of the proton pump has an important role in Golgi function.
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.