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Transcriptomic and proteomic insights into progressive myoclonus epilepsy, EPM1

ABSTRACT: Progressive myoclonus epilepsy EPM1 is a rare neurodegenerative disease caused by partial loss of function of cystatin B (CSTB), a cysteine protease inhibitor with known neuroprotective roles. The disease mechanisms remain largely unsolved, and no treatments are available to control the debilitating myoclonus in EPM1. We investigated the impact of CSTB loss on transcriptome in three regions of CSTB-deficient (Cstb-/-) mouse brain — the cerebellum, cerebral cortex, and hippocampus — during disease progression, providing comprehensive insights into the molecular changes and disease mechanisms.

ORGANISM(S): Mus musculus

PROVIDER: GSE309108 | GEO | 2026/03/05

REPOSITORIES: GEO

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Proteomic analysis of cerebellar synaptosomes in presymptomatic cystatin B –deficient mice

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