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SCHOSER , Benedikt

Last name: SCHOSER

First name: Benedikt

2019 (v1)

Journal article

Metadata-only

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Laforêt, Pascal Inoue, Michio Goillot, Evelyne

International audience

Uploaded on: December 4, 2022
2018 (v1)

Publication

Metadata-only

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Shashi, Vandana Magiera, Maria M Klein, Dennis

A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a prominent post-translational modification of neuronal microtubules. Defective tubulin polyglutamylation was first linked to neurodegeneration in the Purkinje cell degeneration (pcd) mouse, which lacks deglutamylase CCP1, displays massive cerebellar atrophy,...

Uploaded on: April 14, 2023