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Article

Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.

Biomolecules - 24 Jul 2022

Morani Federica, Doccini Stefano, Galatolo Daniele, Pezzini Francesco, Soliymani Rabah, Simonati Alessandro, Lalowski Maciej M, Gemignani Federica, Santorelli Filippo M

Abstract excerpt

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...

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PMID: 35892334
DOI: 10.3390/biom12081024
PMCID: PMC9331974

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