Network approach identifies Pacer as an autophagy protein involved in ALS pathogenesis.

ABSTRACT:

Background

Amyotrophic lateral sclerosis (ALS) is a multifactorial fatal motoneuron disease without a cure. Ten percent of ALS cases can be pointed to a clear genetic cause, while the remaining 90% is classified as sporadic. Our study was aimed to uncover new connections within the ALS network through a bioinformatic approach, by which we identified C13orf18, recently named Pacer, as a new component of the autophagic machinery and potentially involved in ALS pathogenesis.

Methods

Initially, we identified Pacer using a network-based bioinformatic analysis. Expression of Pacer was then investigated in vivo using spinal cord tissue from two ALS mouse models (SOD1^G93A and TDP43^A315T) and sporadic ALS patients. Mechanistic studies were performed in cell cult

SUBMITTER: Beltran S 

PROVIDER: S-EPMC6437924 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature