| http://purl.uniprot.org/citations/16133264 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16133264 | http://www.w3.org/2000/01/rdf-schema#comment | "Mucolipidosis type IV (MLIV) is a rare, neurogenetic disorder characterized by developmental abnormalities of the brain, and impaired neurological, ophthalmological, and gastric function. Considered a lysosomal disease, MLIV is characterized by the accumulation of large vacuoles in various cell types. Recent evidence indicates that MLIV is caused by mutations in MCOLN1, the gene that encodes mucolipin-1 (ML1), a 65-kDa protein showing sequence homology and topological similarities with polycystin-2 and other transient receptor potential (TRP) channels. In this report, our observations on the channel properties of ML1, and molecular pathophysiology of MLIV are reviewed and expanded. Our studies have shown that ML1 is a multiple sub-conductance, non-selective cation channel. MLIV-causing mutations result in functional differences in the channel protein. In particular, the V446L and DeltaF408 mutations retain channel function but have interesting functional differences with regards to pH dependence and Ca(2+) transport. While the wild-type protein is inhibited by Ca(2+) transport, mutant ML1 is not. Atomic force microscopy imaging of ML1 channels shows that changes in pH modify the aggregation and size of the ML1 channels, which has an impact on vesicular fusogenesis. The new evidence provides support for a novel role of ML1 cation channels in vesicular acidification and normal endosomal function."xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.org/dc/terms/identifier | "doi:10.1007/s00424-005-1448-9"xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/author | "Goldmann W.H."xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/author | "Montalbetti N."xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/author | "Raychowdhury M.K."xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/author | "Cantiello H.F."xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/author | "Chasan B."xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/author | "Gonzalez-Perrett S."xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/author | "Timpanaro G.A."xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/name | "Pflugers Arch"xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/pages | "304-312"xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/title | "Cation channel activity of mucolipin-1: the effect of calcium."xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://purl.uniprot.org/core/volume | "451"xsd:string |
| http://purl.uniprot.org/citations/16133264 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16133264 |
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