The Childhood-Onset Neurodegeneration with Cerebellar Atrophy (CONDCA) Disease Caused by <i>AGTPBP1</i> Gene Mutations: The Purkinje Cell Degeneration Mouse as an Animal Model for the Study of this Human Disease
Recent reports have identified rare, biallelic damaging variants of the <i>AGTPBP1</i> gene that cause a novel and documented human disease known as childhood-onset neurodegeneration with cerebellar atrophy (CONDCA), linking loss of function of the AGTPBP1 protein to human neurodegenerat...
Main Authors: | , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-09-01
|
Series: | Biomedicines |
Subjects: | |
Online Access: | https://www.mdpi.com/2227-9059/9/9/1157 |