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: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-09-01
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| Series: | Biomedicines |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9059/9/9/1157 |