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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Vardi, Ayelet, Pri-Or, Amir, Wigoda, Noa, Grishchuk, Yulia, Futerman, Anthony H.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7818904/
https://ncbi.nlm.nih.gov/pubmed/33478506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01679-7
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars