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

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http://hdl.handle.net/10138/346427

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Morani, F.; Doccini, S.; Galatolo, D.; Pezzini, F.; Soliymani, R.; Simonati, A.; Lalowski, M.M.; Gemignani, F.; Santorelli, F.M. Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model. Biomolecules 2022, 12, 1024.

Title: Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model
Author: Morani, Federica; Doccini, Stefano; Galatolo, Daniele; Pezzini, Francesco; Soliymani, Rabah; Simonati, Alessandro; Lalowski, Maciej M.; Gemignani, Federica; Santorelli, Filippo M.
Publisher: Multidisciplinary Digital Publishing Institute
Date: 2022-07-24
URI: http://hdl.handle.net/10138/346427
Abstract: 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 affected disease-specific pathways, upstream regulators, and biological functions related to ARSACS, which exemplify a rationale for the development of improved early diagnostic strategies and alternative treatment options in this rare condition that currently lacks a cure. Our integrated results strengthen the evidence for disease-specific defects related to bioenergetics and protein quality control systems and reinforce the role of dysregulated cytoskeletal organization in the pathogenesis of ARSACS.


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