Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2850
Título: Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking
Autor: Coutinho, M.F.
Lacerda, L.
Pinto, E.
Ribeiro, H.
Macedo-Ribeiro, S.
Castro, L.
Prata, M.J.
Alves, S.
Palavras-chave: Doenças Genéticas
Genética Humana
Doenças Lisossomais de Sobrecarga
LIMP-2
M6P Independent Trafficking
Lysosomal Storage Diseases
Sortilin
Data: 4-Ago-2014
Editora: John Wiley & Sons Ltd.
Citação: Clin Genet. 2014 Aug 4. doi: 10.1111/cge.12469. Epub 2014 Sep 17.
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/2850
DOI: 10.1111/cge.12469
ISSN: 0009-9163
Versão do Editor: http://onlinelibrary.wiley.com/doi/10.1111/cge.12469/abstract;jsessionid=21F92606FD3DFADA2203638ECA8EDDA0.f04t03
Aparece nas colecções:DGH - Artigos em revistas internacionais

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