Article

Changes in protein function underlies the disease spectrum in patients with CHIP mutations

2019-04-26

Abstract excerpt

Monogenetic disorders that cause cerebellar ataxia are characterized by defects in gait and atrophy of the cerebellum; however, patients often suffer from a spectrum of disease, complicating treatment options. Spinocerebellar ataxia autosomal recessive 16 (SCAR16) is caused by coding mutations in STUB1 , a gene that encodes the multi-functional enzyme CHIP (C-terminus of HSC70-interacting protein). The spectrum o...

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Literature Corpus work: 2dc9732a-771d-544d-ac6c-aa6b5518c2e9
DOI: 10.1101/620591

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