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Progress in Elucidating Pathophysiology of Mucolipidosis IV.
Mucolipidosis IV (MLIV) is an autosomal-recessive disease caused by loss-of-function mutations in the MCOLN1 gene encoding the non-selective cationic lysosomal channel transient receptor potential mucolipin-1 (TRPML1). Patients with MLIV suffer from severe motor and cognitive deficits that manifest...
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| Publicado no: | Neurosci Lett |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8253105/ https://ncbi.nlm.nih.gov/pubmed/33965501 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neulet.2021.135944 |
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