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ProteomicsIntegrative organelle-based functional proteomics in ARSACS-focus on bioenergetics and autophagy
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disease characterized by early-onset spasticity in the lower limbs, axonal-demyelinating sensorimotor peripheral neuropathy, and cerebellar ataxia. Our understanding of the genetic basis, protein fun...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-12-20 | MSV000088592 | MassIVE
ProteomicsCLN5 involvement in mitochondrial dysfunction
CLN5 disease is a rare form of late-infantile neuronal ceroid lipofuscinosis (NCL) caused by mutations in the CLN5 gene that encodes a protein whose primary function and physiological roles remains unresolved. Emerging lines of evidence point to mitochondrial dysfunction in the onset and progression...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) Mus Musculus (ncbitaxon:10090) 
2020-02-01 | MSV000084880 | MassIVE
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