Brain cell type specific proteomics approach to discover pathological mechanisms in the childhood CNS disorder mucolipidosis type IV

Mucolipidosis IV (MLIV) is an ultra-rare, recessively inherited lysosomal disorder resulting from inactivating mutations in MCOLN1, the gene encoding the lysosomal cation channel TRPML1. The disease primarily affects the central nervous system (CNS) and manifests in the first year with cognitive and...

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Principais autores:	Madison Sangster, Sanjid Shahriar, Zachary Niziolek, Maria Carla Carisi, Michael Lewandowski, Bogdan Budnik, Yulia Grishchuk
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2023-08-01
coleção:	Frontiers in Molecular Neuroscience
Assuntos:	lysosomal disease mucolipidosis TRPML1 central nervous system brain cells cell specific proteomics
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fnmol.2023.1215425/full
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