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Title:

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Document type:
Journal Article; Article
Author(s):
Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán-Vega, Francisco J; Pena, Loren Dm; Smith, Edward C; Steinlin, Maja; Babiker, Mohamed Oe; Mohassel, Payam; Foley, A Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot,...     »
Abstract:
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, and accumulates abnormally glutamylated tubulin in degenerating neurons. We found biallelic rare and damaging variants in the gene encoding CCP1 in 13 in...     »
Journal title abbreviation:
EMBO J
Year:
2018
Journal volume:
37
Journal issue:
23
Fulltext / DOI:
doi:10.15252/embj.2018100540
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/30420557
Print-ISSN:
0261-4189
TUM Institution:
Institut für Humangenetik
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