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Nature Genetics (3)

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Showing 1–3 of 3 results

Advanced filters: Author: Clara Barbot Clear advanced filters

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

Maria-Céu Moreira
Sandra Klur
Michel Koenig
Research08 Feb 2004
Nature Genetics

Volume: 36, P: 225-227
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Maria-Céu Moreira
Clara Barbot
Michel Koenig
Research01 Oct 2001
Nature Genetics

Volume: 29, P: 189-193
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

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.

Ji Eun Lee
Jennifer L Silhavy
Joseph G Gleeson
Research15 Jan 2012
Nature Genetics

Volume: 44, P: 193-199