Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis
出版年份 2017 全文链接
标题
Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 27, Issue 3, Pages 516-528
出版商
Oxford University Press (OUP)
发表日期
2017-12-05
DOI
10.1093/hmg/ddx421
参考文献
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。- RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly
- (2017) Yuya Nishijima et al. MOLECULAR BIOLOGY OF THE CELL
- Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein–coupled receptors
- (2017) Tomoaki Hirano et al. MOLECULAR BIOLOGY OF THE CELL
- Ciliary entry of KIF17 is dependent on its binding to the IFT-B complex via IFT46–IFT56 as well as on its nuclear localization signal
- (2017) Teruki Funabashi et al. MOLECULAR BIOLOGY OF THE CELL
- Practical method for targeted disruption of cilia-related genes by using CRISPR/Cas9-mediated, homology-independent knock-in system
- (2017) Yohei Katoh et al. MOLECULAR BIOLOGY OF THE CELL
- Genes and molecular pathways underpinning ciliopathies
- (2017) Jeremy F. Reiter et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Protein transport in growing and steady-state cilia
- (2017) Karl F. Lechtreck et al. TRAFFIC
- NovelIFT122mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum
- (2016) Shahida Moosa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin‐binding IFT‐B2 complex
- (2016) Michael Taschner et al. EMBO JOURNAL
- Overall Architecture of the Intraflagellar Transport (IFT)-B Complex Containing Cluap1/IFT38 as an Essential Component of the IFT-B Peripheral Subcomplex
- (2016) Yohei Katoh et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Loss of ift122, a Retrograde Intraflagellar Transport (IFT) Complex Component, Leads to Slow, Progressive Photoreceptor Degeneration Due to Inefficient Opsin Transport
- (2016) Meriam Boubakri et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- INPP5E regulates phosphoinositide-dependent cilia transition zone function
- (2016) Jennifer M. Dyson et al. JOURNAL OF CELL BIOLOGY
- Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E
- (2016) Shohei Nozaki et al. JOURNAL OF CELL SCIENCE
- The Intraflagellar Transport Machinery
- (2016) Michael Taschner et al. Cold Spring Harbor Perspectives in Biology
- Ciliopathies
- (2016) Daniela A. Braun et al. Cold Spring Harbor Perspectives in Biology
- An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
- (2016) Karsten Boldt et al. Nature Communications
- Role for the IFT-A Complex in Selective Transport to the Primary Cilium
- (2016) Wenxiang Fu et al. Cell Reports
- Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies
- (2015) A.M. McInerney-Leo et al. CLINICAL GENETICS
- Ins and outs of GPCR signaling in primary cilia
- (2015) K. B. Schou et al. EMBO REPORTS
- Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium
- (2015) José A. Caparrós-Martín et al. HUMAN MOLECULAR GENETICS
- Tubulin transport by IFT is upregulated during ciliary growth by a cilium-autonomous mechanism
- (2015) Julie M. Craft et al. JOURNAL OF CELL BIOLOGY
- Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins
- (2015) Y. Katoh et al. JOURNAL OF CELL SCIENCE
- Getting tubulin to the tip of the cilium: One IFT train, many different tubulin cargo-binding sites?
- (2014) Sagar Bhogaraju et al. BIOESSAYS
- Cilia and Diseases
- (2014) Jason M. Brown et al. BIOSCIENCE
- The Intraflagellar Transport Protein IFT27 Promotes BBSome Exit from Cilia through the GTPase ARL6/BBS3
- (2014) Gerald M. Liew et al. DEVELOPMENTAL CELL
- IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment
- (2014) Thibaut Eguether et al. DEVELOPMENTAL CELL
- G-protein-coupled receptors, Hedgehog signaling and primary cilia
- (2014) Saikat Mukhopadhyay et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia
- (2014) Corey L. Williams et al. Nature Communications
- Whole exome sequencing revealed biallelicIFT122mutations in a family with CED1 and recurrent pregnancy loss
- (2013) Y. Tsurusaki et al. CLINICAL GENETICS
- DNA targeting specificity of RNA-guided Cas9 nucleases
- (2013) Patrick D Hsu et al. NATURE BIOTECHNOLOGY
- The roles of evolutionarily conserved functional modules in cilia-related trafficking
- (2013) Ching-Hwa Sung et al. NATURE CELL BIOLOGY
- The mechanisms of Hedgehog signalling and its roles in development and disease
- (2013) James Briscoe et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- NovelIFT122mutation associated with impaired ciliogenesis and cranioectodermal dysplasia
- (2013) Anas M. Alazami et al. Molecular Genetics & Genomic Medicine
- IFT25 Links the Signal-Dependent Movement of Hedgehog Components to Intraflagellar Transport
- (2012) Brian T. Keady et al. DEVELOPMENTAL CELL
- The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking
- (2012) Karel F. Liem et al. JOURNAL OF CELL BIOLOGY
- Rab11 regulates exocytosis of recycling vesicles at the plasma membrane
- (2012) Senye Takahashi et al. JOURNAL OF CELL SCIENCE
- Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation
- (2011) Nicolas F. Berbari et al. DEVELOPMENTAL BIOLOGY
- Subunit Interactions and Organization of theChlamydomonas reinhardtiiIntraflagellar Transport Complex A Proteins
- (2011) Robert H. Behal et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Ciliogenesis: building the cell's antenna
- (2011) Hiroaki Ishikawa et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components
- (2011) J. Qin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene
- (2010) Joanna Walczak-Sztulpa et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Intersectin Regulates Dendritic Spine Development and Somatodendritic Endocytosis but Not Synaptic Vesicle Recycling in Hippocampal Neurons
- (2009) Sébastien Thomas et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4
- (2008) Salvatore Cortellino et al. DEVELOPMENTAL BIOLOGY
- A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation
- (2008) Alexander V. Loktev et al. DEVELOPMENTAL CELL
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now