Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

The ATP/GTP-Binding Protein 1 (AGTPBP1) gene (OMIM *606830) catalyzes deglutamylation of polyglutamylated proteins, and its deficiency manifests by cerebellar ataxia and peripheral neuropathy in mice and lower motor neuron-like disease in sheep. In the mutant mice, cerebellar atrophy due to Purkinje...

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Publicat a:Eur J Hum Genet
Autors principals: Sheffer, Ruth, Gur, Michal, Brooks, Rebecca, Salah, Somaya, Daana, Muhannad, Fraenkel, Nitay, Eisenstein, Eli, Rabie, Malcolm, Nevo, Yoram, Jalas, Chaim, Elpeleg, Orly, Edvardson, Shimon, Harel, Tamar
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777529/
https://ncbi.nlm.nih.gov/pubmed/30976113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0400-y
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