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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Detalles Bibliográficos
Autores principales: Sangster, Madison, Shahriar, Sanjid, Niziolek, Zachary, Carisi, Maria Carla, Lewandowski, Michael, Budnik, Bogdan, Grishchuk, Yulia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10440433/
https://www.ncbi.nlm.nih.gov/pubmed/37609073
http://dx.doi.org/10.3389/fnmol.2023.1215425

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10440433/
https://www.ncbi.nlm.nih.gov/pubmed/37609073
http://dx.doi.org/10.3389/fnmol.2023.1215425

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