Skip to main content

3 Result(s)

within Carrie M Louie Remove this filter Gene Function Remove this filter

and

  1. No Access

    Article

    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...

    Ji Eun Lee, Jennifer L Silhavy, Maha S Zaki, Jana Schroth… in Nature Genetics (2012)

  2. No Access

    Article

    AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

    Joseph Gleeson and colleagues show that Ahi1 is required in mice for retinal outer segment development and displays dosage-sensitive genetic interactions with Nphp1. They further show that a missense allele of AH...

    Carrie M Louie, Gianluca Caridi, Vanda S Lopes, Francesco Brancati… in Nature Genetics (2010)

  3. No Access

    Article

    Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

    Joubert syndrome–related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. ...

    Enza Maria Valente, Jennifer L Silhavy, Francesco Brancati… in Nature Genetics (2006)