19876931 |
Clinical and molecular features of Joubert syndrome and related disorders
Parisi, MA
|
Am J Med Genet C Semin Med Genet |
2009 |
18554500 |
Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation
Kikko, Y,
Kobayashi, T,
Katada, T,
Kontani, K,
Hori, Y
|
Biochem. Biophys. Res. Commun. |
2008 |
22389062 |
The emerging role of Arf/Arl small GTPases in cilia and ciliopathies
Ling, K,
Hu, J,
Li, Y
|
J. Cell. Biochem. |
2012 |
23150559 |
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting
Seo, S,
Searby, CC,
Li, Y,
Pope, RM,
Sheffield, VC,
Humbert, MC,
Weihbrecht, K
|
Proc. Natl. Acad. Sci. U.S.A. |
2012 |
24339792 |
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain
Mans, DA,
Kida, K,
Hetterschijt, L,
Sanders, AA,
Ueffing, M,
van Reeuwijk, J,
Katada, T,
Man Wu, K,
Clarke, L,
Kaplan, OI,
Cevik, S,
Boldt, K,
Letteboer, SJ,
Roepman, R,
van Beersum, SE,
Kremer, H,
Mullins, A,
Blacque, OE,
Van Wijk, E,
Wdowicz, A,
Horn, N,
Kontani, K,
Hori, Y
|
PLoS Genet. |
2013 |
23548655 |
Molecular views of Arf-like small GTPases in cilia and ciliopathies
Ling, K,
Hu, J,
Zhang, Q
|
Exp. Cell Res. |
2013 |
24166846 |
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
Perrault, I,
Romani, M,
Saunier, S,
Saada, J,
Abhyankar, A,
Filhol, E,
Wright, KJ,
Encha-Ravazi, F,
Litzler, J,
Lyonnet, S,
Jackson, PK,
Chassaing, N,
Drummond, IA,
Le Corre, S,
Elkhartoufi, N,
Attié-Bitach, T,
Munnich, A,
Baehr, W,
Gleeson, JG,
Valente, EM,
Micalizzi, A,
Thomas, S,
Amiel, J,
Kwong, M,
Boddaert, N,
Burglen, L,
Vekemans, M,
Casanova, JL
|
Hum. Mutat. |
2014 |
18674751 |
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
Marsh, SE,
Attié-Bitach, T,
Traver, D,
Audollent, S,
Swistun, D,
Holden, KR,
Ali, BR,
Johnson, CA,
Caspary, T,
Brancati, F,
Dobyns, WB,
Glass, IA,
Lindner, TH,
Logan, CV,
Al-Gazali, L,
Hildebrandt, F,
Bennett, C,
Bielas, SL,
Cantagrel, V,
Otto, EA,
Bertrand, JY,
Silhavy, JL
|
Am. J. Hum. Genet. |
2008 |
19668215 |
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
Ayub, M,
Compère, P,
Kisseleva, MV,
Hampshire, DJ,
Cox, JJ,
Gergely, F,
Gayral, S,
Riley, JH,
Woods, CG,
Jacoby, M,
Pérez-Morga, D,
Pernot, E,
Schurmans, S,
Schiffmann, SN,
Blockmans, M
|
Nat. Genet. |
2009 |
22828281 |
Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies
Conduit, SE,
Mitchell, CA,
Dyson, JM
|
FEBS Lett. |
2012 |
20530210 |
The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis
Ling, K,
Wei, Q,
Hu, J,
Li, Y,
Zhang, Y
|
J. Cell Biol. |
2010 |
19668216 |
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Schurmans, S,
Kayserili, H,
Gayral, S,
Brancati, F,
Dallapiccola, B,
Jacoby, M,
Gleeson, JG,
Swistun, D,
Majerus, PW,
Zaki, MS,
Valente, EM,
Silhavy, JL,
Boltshauser, E,
Kisseleva, MV,
Scott, LC,
Travaglini, L,
Abdel-Aleem, A,
Fazzi, E,
Bayoumi, RA,
Bielas, SL,
Bertini, E,
Al-Gazali, L,
Field, SJ,
Sztriha, L,
Rosti, RO
|
Nat Genet |
2009 |
20231383 |
Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans
Cottell, D,
Kida, K,
Foley-Fisher, C,
Toivenon, T,
Blacque, OE,
Katada, T,
Kontani, K,
Kaplan, OI,
Hori, Y,
Cevik, S
|
J. Cell Biol. |
2010 |