Ontology highlight
ABSTRACT:
SUBMITTER: Vasilev F
PROVIDER: S-EPMC7013929 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Vasilev Filipp F Sukhomyasova Aitalina A Otomo Takanobu T
International journal of molecular sciences 20200109 2
Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes-mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the <i>VPS33A</i> gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient's skin fibroblast. Nineteen pat ...[more]