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Functional identification of protocadherin alpha 9 (PCDHA9) as a candidate causative gene for amyotrophic lateral sclerosis

ABSTRACT: Genes associated with amyotrophic lateral sclerosis (ALS) are identified in ~15% of sporadic cases. Pcdhα9 mouse mutants carrying the corresponding point mutation or deletion mutation manifested a progressive decline in survival and motor function (paralysis) caused by loss of spinal motor neurons, significant muscle atrophy, and structural/functional abnormalities of the neuromuscular junction. Potential causes of defects in mutant mice predicted by single nucleus RNA-seq and ATAC-seq.

ORGANISM(S): Mus musculus

PROVIDER: GSE234783 | GEO | 2023/06/30

REPOSITORIES: GEO

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Transcription profiling of skeletal muscle from amyotrophic lateral sclerosis sod1(G86R) axotomized mice and control mice to monitor denervation-dependent gene expression in an Amyotrophic lateral sclerosis (ALS) mouse model

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