Ontology highlight
ABSTRACT:
INSTRUMENT(S): Synapt G2-S HDMS
ORGANISM(S): Homo Sapiens (ncbitaxon:9606)
SUBMITTER: Maciej Lalowski Filippo M. Santorelli
PROVIDER: MSV000088592 | MassIVE | Mon Dec 20 08:44:00 GMT 2021
SECONDARY ACCESSION(S): PXD030541
REPOSITORIES: MassIVE
Morani Federica F Doccini Stefano S Galatolo Daniele D Pezzini Francesco F Soliymani Rabah R Simonati Alessandro A Lalowski Maciej M MM Gemignani Federica F Santorelli Filippo M FM
Biomolecules 20220724 8
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 ARSACS (genetic basis, protein function, and disease mechanisms) remains partial. The integrative use of organelle-based quantitative proteomics and whole-genome analysis proposed in the present study allowed identifying the affec ...[more]