Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

Abstract 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 th...

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Bibliographic Details
Main Authors: Ayelet Vardi, Amir Pri-Or, Noa Wigoda, Yulia Grishchuk, Anthony H. Futerman
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Lysosome
TRPML1
Brain
Neuropathology
Autophagy
Neuroinflammation
Online Access:https://doi.org/10.1186/s13023-021-01679-7

Internet

https://doi.org/10.1186/s13023-021-01679-7

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