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Titel:

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Dokumenttyp:
Journal Article; Article
Autor(en):
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...     »
Zeitschriftentitel:
EMBO J
Jahr:
2018
Band / Volume:
37
Heft / Issue:
23
Volltext / DOI:
doi:10.15252/embj.2018100540
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/30420557
Print-ISSN:
0261-4189
TUM Einrichtung:
Institut für Humangenetik
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