Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias.

ABSTRACT: The Hereditary Spastic Paraplegias are a group of neurodegenerative diseases characterized by spasticity and weakness in the lower body. Owing to the combination of genetic diversity and variable clinical presentation, the Hereditary Spastic Paraplegias are a strong candidate for protein-protein interaction network analysis as a tool to understand disease mechanism(s) and to aid functional stratification of phenotypes. In this study, experimentally validated human data were used to create a protein-protein interaction network based on the causative genes. Network evaluation as a combination of topological analysis and functional annotation led to the identification of core proteins in putative shared biological processes, such as intracellular transport and vesicle trafficking. The applica

SUBMITTER: Vavouraki N 

PROVIDER: S-EPMC8169945 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature