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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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Vardi, Ayelet, Pri-Or, Amir, Wigoda, Noa, Grishchuk, Yulia, Futerman, Anthony H.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
Témata:
Research
On-line přístup: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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