相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion
Neil A. Duldulao et al.
DEVELOPMENT (2009)
Localization of Inv in a distinctive intraciliary compartment requires the C-terminal ninein-homolog-containing region
Dai Shiba et al.
JOURNAL OF CELL SCIENCE (2009)
Identification of G Protein α Subunit-Palmitoylating Enzyme
Ryouhei Tsutsumi et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
Vincent Cantagrel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Nicholas T. Gorden et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Domain architecture of the atypical Arf-family GTPase Arl13b involved in cilia formation
Yuji Hori et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)
Cerebellar development and disease
Kathleen J. Millen et al.
CURRENT OPINION IN NEUROBIOLOGY (2008)
Intraflagellar transport: from molecular characterisation to mechanism
Oliver E. Blacque et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2008)
The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure
Andrew R. Jauregui et al.
JOURNAL OF CELL BIOLOGY (2008)
elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8
Yoshihiro Omori et al.
NATURE CELL BIOLOGY (2008)
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia
Alok S. Shah et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Membrane curvature induced by Arf1-GTP is essential for vesicle formation
Rainer Beck et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
The zebrafish fleer gene encodes an essential regulator of cilia tubulin polyglutamylation
Narendra Pathak et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
Loss of Bardet-Biedl syndrome proteins causes defects in peripheral sensory innervation and function
Perciliz L. Tan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Functional dissection of Rab GTPases involved in primary cilium formation
Shin-ichiro Yoshimura et al.
JOURNAL OF CELL BIOLOGY (2007)
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
Maxence V. Nachury et al.
CELL (2007)
Sensory ciliogenesis in Caenorhabditis elegans:: Assignment of IFT components into distinct modules based on transport and phenotypic profiles
Guangshuo Ou et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
The graded response to sonic hedgehog depends on cilia architecture
Tamara Caspary et al.
DEVELOPMENTAL CELL (2007)
Mutation of the MAP kinase DYF-5 affects docking and undocking of kinesin-2 motors and reduces their speed in the cilia of Caenorhabditis elegans
Jan Burghoorn et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Sensory cilia and integration of signal transduction in human health and disease
Soren T. Christensen et al.
TRAFFIC (2007)
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
Lekbir Baala et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
General and cell-type specific mechanisms target TRPP2/PKD-2 to cilia
Young-Kyung Bae et al.
DEVELOPMENT (2006)
Systematic screening for palmitoyl transferase activity of the DHHC protein family in mammalian cells
Yuko Fukata et al.
METHODS (2006)
Mechanism of transport of IFT particles in C-elegans cilia by the concerted action of kinesin-II and OSM-3 motors
Xiaoyu Pan et al.
JOURNAL OF CELL BIOLOGY (2006)
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
John A. Sayer et al.
NATURE GENETICS (2006)
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Enza Maria Valente et al.
NATURE GENETICS (2006)
ARF proteins: roles in membrane traffic and beyond
C D'Souza-Schorey et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2006)
CSS-Palm: palmitoylation site prediction with a clustering and scoring strategy (CSS)
FF Zhou et al.
BIOINFORMATICS (2006)
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
EM Valente et al.
ANNALS OF NEUROLOGY (2006)
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport
O. E. Blacque et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2006)
Piecing together a ciliome
Peter N. Inglis et al.
TRENDS IN GENETICS (2006)
Intraflagellar transport is required for the vectorial movement of TRPV channels in the ciliary membrane
HM Qin et al.
CURRENT BIOLOGY (2005)
Functional coordination of intraflagellar transport motors
GS Ou et al.
NATURE (2005)
Functional genomics of the cilium, a sensory organelle
OE Blacque et al.
CURRENT BIOLOGY (2005)
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders
M Castori et al.
JOURNAL OF MEDICAL GENETICS (2005)
Intraflagellar transport (IFT) cargo: IFT transports flagellar precursors to the tip and turnover products to the cell body
HM Qin et al.
JOURNAL OF CELL BIOLOGY (2004)
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
RJ Ferland et al.
NATURE GENETICS (2004)
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
YL Fan et al.
NATURE GENETICS (2004)
A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney
ZX Sun et al.
DEVELOPMENT (2004)
Loss of C-elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
OE Blacque et al.
GENES & DEVELOPMENT (2004)
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
MA Parisi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Mutations in the AHI1 gene, encoding Jouberin, cause Joubert syndrome with cortical polymicrogyria
T Dixon-Salazar et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Two anterograde intraflagellar transport motors cooperate to build sensory cilia on C-elegans neurons
JJ Snow et al.
NATURE CELL BIOLOGY (2004)
Hedgehog signalling in the mouse requires intraflagellar transport proteins
DW Huangfu et al.
NATURE (2003)
C-elegans:: of neurones and genes
C Gally et al.
M S-MEDECINE SCIENCES (2003)
分享论文
