Publication
Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking
| dc.contributor.author | Coutinho, M.F. | |
| dc.contributor.author | Lacerda, L. | |
| dc.contributor.author | Pinto, E. | |
| dc.contributor.author | Ribeiro, H. | |
| dc.contributor.author | Macedo-Ribeiro, S. | |
| dc.contributor.author | Castro, L. | |
| dc.contributor.author | Prata, M.J. | |
| dc.contributor.author | Alves, S. | |
| dc.date.accessioned | 2015-02-13T12:13:48Z | |
| dc.date.available | 2015-02-13T12:13:48Z | |
| dc.date.issued | 2014-08-04 | |
| dc.description.abstract | 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. | por |
| dc.description.sponsorship | This work was supported by FCT – project PTDC/SAU-GMG/102889/2008 (http://alfa.fct.mctes.pt/). M. F. C. is a grantee from the FCT (SFRH/BD/48103/2008). | por |
| dc.identifier.citation | Clin Genet. 2014 Aug 4. doi: 10.1111/cge.12469. Epub 2014 Sep 17. | por |
| dc.identifier.doi | 10.1111/cge.12469 | |
| dc.identifier.issn | 0009-9163 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/2850 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | John Wiley & Sons Ltd. | por |
| dc.relation | PTDC/SAU-GMG/ 102889/2008-FCT | por |
| dc.relation.publisherversion | http://onlinelibrary.wiley.com/doi/10.1111/cge.12469/abstract;jsessionid=21F92606FD3DFADA2203638ECA8EDDA0.f04t03 | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Genética Humana | por |
| dc.subject | Doenças Lisossomais de Sobrecarga | por |
| dc.subject | LIMP-2 | por |
| dc.subject | M6P Independent Trafficking | por |
| dc.subject | Lysosomal Storage Diseases | por |
| dc.subject | Sortilin | |
| dc.title | Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 5 | por |
| oaire.citation.startPage | 1 | por |
| oaire.citation.title | Clinical Genetics | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |