MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone (Q27343217)

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:0036038

ciliary transition zone assembly

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1905349

Transmembrane protein 17

1 reference

non-motile cilium assembly

1 reference

Tectonic family member 2

1 reference

Tectonic family member 1

1 reference

Transmembrane protein 80

1 reference

Coiled-coil and C2 domain containing 2A

1 reference

Cyclin-dependent kinase-like 1 CELE_Y42A5A.4

1 reference

Protein fantom CELE_C09G5.8

1 reference

TMEM (human TransMEMbrane protein) homolog CELE_ZK418.3

1 reference

NePHronoPhthisis (human kidney disease) homolog CELE_R13H4.1

1 reference

MecKel-Gruber Syndrome (MKS) homolog CELE_C30B5.9

1 reference

C. elegans CEntrosomal Protein CELE_Y47G6A.17

1 reference

TMEM (human TransMEMbrane protein) homolog CELE_F10B5.9

1 reference

TMEM (human TransMEMbrane protein) homolog CELE_T23E7.5

1 reference

TMEM (human TransMEMbrane protein) homolog CELE_T26A8.2

1 reference

0 references

0 references

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Christel Thauvin-Robinet

0 references

Estelle Lopez

Francesc R Garcia-Gonzalo

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object named as

Francesc R Garcia-Gonzalo

0 references

Roberta De Mori

0 references

Oliver E Blacque

0 references

Michel R Leroux

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author name string

Chunmei Li

0 references

Victor L Jensen

0 references

Kwangjin Park

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Julie Kennedy

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Marta Romani

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Dominique Gaillard

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Bérénice Doray

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Jean-Baptiste Rivière

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Jeremy F Reiter

Creative Commons Attribution 4.0 International

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language of work or name

English

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publication date

March 2016

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0 references

0 references

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e1002416

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start time

16 March 2016

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4794247/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

1 reference

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CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

21 March 2017

1 reference

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Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation

21 March 2017

1 reference

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How do cilia organize signalling cascades?

21 March 2017

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Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain

21 March 2017

1 reference

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The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

21 March 2017

1 reference

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A genome-wide collection of Mos1 transposon insertion mutants for the C. elegans research community

21 March 2017

1 reference

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Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

21 March 2017

1 reference

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Cilia in vertebrate development and disease

21 March 2017

1 reference

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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Mechanisms of Nephronophthisis and Related Ciliopathies

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Intraflagellar transport motors in cilia: moving along the cell's antenna

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

The roles of evolutionarily conserved functional modules in cilia-related trafficking

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Architecture and function of IFT complex proteins in ciliogenesis

21 March 2017

1 reference

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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Disruption of a ciliary B9 protein complex causes Meckel syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

The nonsense-mediated decay RNA surveillance pathway

21 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

21 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Evolution: Tracing the origins of centrioles, cilia, and flagella

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Cilia disassembly with two distinct phases of regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Unraveling the genetics of Joubert and Meckel-Gruber syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

A migrating ciliary gate compartmentalizes the site of axoneme assembly in Drosophila spermatids

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

G-protein-coupled receptors, Hedgehog signaling and primary cilia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

The primary cilium: guardian of organ development and homeostasis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

CEP290 and the primary cilium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Primary cilia in neurodevelopmental disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

C5orf42 is the major gene responsible for OFD syndrome type VI.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

The million mutation project: a new approach to genetics in Caenorhabditis elegans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Joubert syndrome and related disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Cilia, Wnt signaling, and the cytoskeleton

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

CDKL5 regulates flagellar length and localizes to the base of the flagella in Chlamydomonas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Exploring the transcriptome of ciliated cells using in silico dissection of human tissues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Zebrafish Cyclin-Dependent Protein Kinase–Like 1 (zcdkl1): Identification and Functional Characterization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Ultrastructure of cilia and flagella - back to the future!

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Making sense of cilia in disease: the human ciliopathies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

The sensory cilia of Caenorhabditis elegans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Protein networks and complexes in photoreceptor cilia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Mutations affecting the chemosensory neurons of Caenorhabditis elegans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

The ciliary necklace. A ciliary membrane specialization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

The ciliary transition zone functions in cell adhesion but is dispensable for axoneme assembly in C. elegans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

Proteomic analysis of isolated ciliary transition zones reveals the presence of ESCRT proteins

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4794247

cAMP and cGMP signaling: sensory systems with prokaryotic roots adopted by eukaryotic cilia

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1002416

Intraflagellar transport proteins in ciliogenesis of photoreceptor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1002416

The transition zone: an essential functional compartment of cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1002416

Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1002416

Functional genomics of intraflagellar transport-associated proteins in C. elegans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1002416

Image analysis of Caenorhabditis elegans ciliary transition zone structure, ultrastructure, molecular composition, and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PBIO.1002416

Conditions for dye-filling of sensory neurons in Caenorhabditis elegans

21 January 2018

1 reference

12 December 2020

Regulating intraflagellar transport

1 reference

12 December 2020

Evidence for a functional membrane barrier in the transition zone between the flagellum and cell body of Chlamydomonas eugametos gametes

1 reference

12 December 2020

Distribution of membrane proteins in mechanically dissociated retinal rods

1 reference

12 December 2020

10.1371/JOURNAL.PBIO.1002416

Identifiers

DOI

1 reference

1 reference

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PubMed publication ID

26982032

1 reference