CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
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Author / Creator
Lee, Ji Eun , Silhavy, Jennifer L , Zaki, Maha S , Schroth, Jana , Bielas, Stephanie L , Marsh, Sarah E , Olvera, Jesus , Brancati, Francesco , Iannicelli, Miriam , Ikegami, Koji , Schlossman, Andrew M , Merriman, Barry , Attié-Bitach, Tania , Logan, Clare V , Glass, Ian A , Cluckey, Andrew , Louie, Carrie M , Lee, Jeong Ho , Raynes, Hilary R , Rapin, Isabelle , Castroviejo, Ignacio P , Setou, Mitsutoshi , Barbot, Clara , Boltshauser, Eugen , Nelson, Stanley F , Hildebrandt, Friedhelm , Johnson, Colin A , Doherty, Daniel A , Valente, Enza Maria and Gleeson, Joseph G
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Joseph Gleeson and colleagues identify
CEP41
mutations as a cause of Joubert syndrome. Their functional studies suggest that CEP41 regulates ciliary entry of TTLL6, an enzyme required for tubulin glutamylation at the cilium.
Tubulin glutamylation is a post-translational modification that occurs predominantly in the ciliary axoneme and has...
Alternative Titles
Full title
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
Authors, Artists and Contributors
Author / Creator
Silhavy, Jennifer L
Zaki, Maha S
Schroth, Jana
Bielas, Stephanie L
Marsh, Sarah E
Olvera, Jesus
Brancati, Francesco
Iannicelli, Miriam
Ikegami, Koji
Schlossman, Andrew M
Merriman, Barry
Attié-Bitach, Tania
Logan, Clare V
Glass, Ian A
Cluckey, Andrew
Louie, Carrie M
Lee, Jeong Ho
Raynes, Hilary R
Rapin, Isabelle
Castroviejo, Ignacio P
Setou, Mitsutoshi
Barbot, Clara
Boltshauser, Eugen
Nelson, Stanley F
Hildebrandt, Friedhelm
Johnson, Colin A
Doherty, Daniel A
Valente, Enza Maria
Gleeson, Joseph G
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3267856
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3267856
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.1078
