A carregar...
Publicação
Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 1.09 MB | Adobe PDF |
Orientador(es)
Resumo(s)
The newly-synthesized lysosomal enzymes travel to the trans-Golgi network
(TGN) and are then driven to the acidic organelle. While the best-known
pathway for TGN-to-endosome transport is the delivery of soluble
hydrolases by the M6P receptors (MPRs), additional pathways do exist, as
showed by the identification of two alternative receptors: LIMP-2,
implicated in the delivery of β-glucocerebrosidase; and sortilin, involved in
the transport of the sphingolipid activator proteins prosaposin and GM2AP,
acid sphingomyelinase and cathepsins D and H. Disruption of the
intracellular transport and delivery pathways to the lysosomes may result in
lysosomal dysfunction, predictably leading to a range of clinical
manifestations of lysosomal storage diseases. However, for a great
percentage of patients presenting such manifestations, no condition is
successfully diagnosed. To analyse if, in this group, phenotypes could be
determined by impairments in the known M6P-independent receptors, we
screened the genes that encode for LIMP-2 and sortilin. No pathogenic
mutations were identified. Other approaches will be needed to clarify
whether sortilin dysfunction may cause disease.
Descrição
Palavras-chave
Doenças Genéticas Genética Humana Doenças Lisossomais de Sobrecarga LIMP-2 M6P Independent Trafficking Lysosomal Storage Diseases Sortilin
Contexto Educativo
Citação
Clin Genet. 2014 Aug 4. doi: 10.1111/cge.12469. Epub 2014 Sep 17.
Editora
John Wiley & Sons Ltd.