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LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV

Loss-of-function mutations in mucolipin 1 (MCOLN1) result in mucolipidosis type IV (MLIV), a lysosomal storage disorder characterized by severe mental and psychomotor retardation. MCOLN1 is a lysosomal ion channel that belongs to the transient receptor potential (TRP) superfamily. To better understa...

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Detalhes bibliográficos
Main Authors: Vergarajauregui, Silvia, Martina, Jose A., Puertollano, Rosa
Formato: Artigo
Idioma:Inglês
Publicado em: Company of Biologists 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3022000/
https://ncbi.nlm.nih.gov/pubmed/21224396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.076240
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