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Activating Mutations of the TRPML1 Channel Revealed by Proline-scanning Mutagenesis
The mucolipin TRP (TRPML) proteins are a family of endolysosomal cation channels with genetically established importance in humans and rodent. Mutations of human TRPML1 cause type IV mucolipidosis, a devastating pediatric neurodegenerative disease. Our recent electrophysiological studies revealed th...
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| Главные авторы: | , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Biochemistry and Molecular Biology
2009
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2797275/ https://ncbi.nlm.nih.gov/pubmed/19638346 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.037184 |
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