Analysis of translatomic changes in the <i>Ubqln2^P497S</i> model of ALS reveals that motor neurons express muscle-associated genes in non-disease states.

ABSTRACT:

Introduction

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressively worsening motor symptoms that lead to eventual fatal paralysis. The number of gene mutations associated with ALS have increased dramatically in recent years, suggesting heterogeneity in the etiology of ALS and the need to develop new models of the disease that encompass these pathologies. In 2011, mutations in the UBQLN2 gene were identified in families with both ALS and frontotemporal dementia (FTD) and have since been linked to ubiquitinated TDP43 inclusion pathology. The involvement of UBQLN2 in ubiquitination and proteasome function suggests an important role in proteostasis, which is reported to be impaired in ALS.

Methods

A UBQLN2<

SUBMITTER: Stansberry WM 

PROVIDER: S-EPMC11611750 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature