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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Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Vardi, Ayelet, Pri-Or, Amir, Wigoda, Noa, Grishchuk, Yulia, Futerman, Anthony H.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2021
Sujets:
Research
Accès en ligne: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
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