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Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

BACKGROUND: Mucolipidosis type IV (MLIV), an ultra-rare neurodevelopmental and neurodegenerative disorder, is caused by mutations in the MCOLN1 gene, which encodes the late endosomal/lysosomal transient receptor potential channel TRPML1 (mucolipin 1). The precise pathophysiogical pathways that cause...

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Detalles Bibliográficos
Autores principales:	Vardi, Ayelet, Pri-Or, Amir, Wigoda, Noa, Grishchuk, Yulia, Futerman, Anthony H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818904/ https://www.ncbi.nlm.nih.gov/pubmed/33478506 http://dx.doi.org/10.1186/s13023-021-01679-7

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