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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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| Asıl Yazarlar: | , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Company of Biologists
2011
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| Konular: | |
| Online Erişim: | 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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