TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome (Q28115647)

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1 March 2020

title

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

1 reference

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Super resolution imaging of protein dynamics and functions in physiology and disease

1 March 2020

sponsor

1 reference

Gateway to Research Project ID

Gateway to Research

26 April 2019

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:0036038

Y-shaped link assembly

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1905350

ciliary transition zone assembly

1 reference

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:1905349

Transmembrane protein 67

1 reference

RPGRIP1 like

1 reference

Transmembrane protein 107

1 reference

non-motile cilium assembly

1 reference

Transmembrane protein 107

1 reference

RFX-like transcription factor daf-19;hypothetical protein CELE_F33H1.1

1 reference

MecKel Syndrome 1 (MKS1)-Related CELE_K03E6.4

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TMEM (human TransMEMbrane protein) homolog CELE_F39B2.9

1 reference

Nephrocystin-1-like protein CELE_M28.7

1 reference

NePHronoPhthisis (human kidney disease) homolog CELE_R13H4.1

1 reference

MecKel-Gruber Syndrome (MKS) homolog CELE_C30B5.9

1 reference

MecKel-Gruber Syndrome (MKS) homolog CELE_K07G5.3

1 reference

1 reference

11

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Teunis J. P. van Dam

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Christel Thauvin-Robinet

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object named as

Christel Thauvin-Robinet

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2

Ange-Line Bruel

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author name string

Katarzyna Szymańska

4

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Karl Gaff

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Ka Man Wu

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Lydie Burglen

12

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Diane Doummar

13

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Jean-Baptiste Rivière

14

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Alistair Curd

18

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Nils J Lambacher

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Gisela G Slaats

5

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Gavin J McManus

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Julie E Kennedy

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Colin A Johnson

21

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publication date

23 November 2015

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full work available at URL

1 March 2020

http://eprints.whiterose.ac.uk/92049/

content deliverer

White Rose Research Online

0 references

published in

Nature Cell Biology

1 reference

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volume

18

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issue

1

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page(s)

122-131

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

1 March 2020

cites work

1 reference

Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease

21 April 2017

1 reference

Trafficking in and to the primary cilium

21 April 2017

1 reference

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

21 April 2017

1 reference

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

21 April 2017

1 reference

A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution

21 April 2017

1 reference

A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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 April 2017

1 reference

Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling

21 April 2017

1 reference

Heritable genome editing in C. elegans via a CRISPR-Cas9 system

21 April 2017

1 reference

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

21 April 2017

1 reference

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

21 April 2017

1 reference

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

21 April 2017

1 reference

The primary cilium: a signalling centre during vertebrate development

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580800

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580800

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580800

Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks.

2 June 2018

1 reference

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The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium

2 June 2018

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Evolution of modular intraflagellar transport from a coatomer-like progenitor.

2 June 2018

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Actin, spectrin, and associated proteins form a periodic cytoskeletal structure in axons

2 June 2018

1 reference

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Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.

2 June 2018

1 reference

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A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis

2 June 2018

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

2 June 2018

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The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure

2 June 2018

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Practical and theoretical advances in predicting the function of a protein by its phylogenetic distribution

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580800

Mutations affecting the chemosensory neurons of Caenorhabditis elegans

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5580800

The ciliary necklace. A ciliary membrane specialization

2 June 2018

1 reference

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Chronic effects of nitrogen dioxide on cilia in hamster bronchioles

2 June 2018

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3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders

2 June 2018

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21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NCB3273

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26595381%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

0 references

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Dimensions Publication ID

1036089762

0 references

Google Scholar paper ID

3100921607526332572

0 references

Microsoft Academic ID

2180541157

0 references

OpenCitations bibliographic resource ID

3521196

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26595381%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

26595381

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26595381%20AND%20SRC:MED&resulttype=core&format=json