The role of primary cilia in neuronal function (Q24632925)

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

Europe PubMed Central

title

The role of primary cilia in neuronal function (English)

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author name string

Jeong Ho Lee

series ordinal

1

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Joseph G Gleeson

series ordinal

2

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language of work or name

English

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publication date

May 2010

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published in

Neurobiology of Disease

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volume

38

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issue

2

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page(s)

167-72

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cites work

1 reference

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INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

7 April 2017

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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

7 April 2017

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CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

7 April 2017

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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

7 April 2017

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Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

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Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

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Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

7 April 2017

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7 April 2017

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Vertebrate Smoothened functions at the primary cilium

7 April 2017

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7 April 2017

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High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

7 April 2017

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

7 April 2017

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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

7 April 2017

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Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

7 April 2017

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The graded response to Sonic Hedgehog depends on cilia architecture

7 April 2017

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Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

7 April 2017

1 reference

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Hedgehog signalling in the mouse requires intraflagellar transport proteins

7 April 2017

1 reference

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An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons

7 April 2017

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Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog

7 April 2017

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Patched1 regulates hedgehog signaling at the primary cilium

7 April 2017

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

7 April 2017

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Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

7 April 2017

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PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

7 April 2017

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Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

7 April 2017

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Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

7 April 2017

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Neurogenesis in the adult is involved in the formation of trace memories

7 April 2017

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Intraflagellar transport/Hedgehog-related signaling components couple sensory cilium morphology and serotonin biosynthesis in Caenorhabditis elegans

7 April 2017

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Nephronophthisis: disease mechanisms of a ciliopathy

27 September 2017

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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling

27 September 2017

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Sensory signaling-dependent remodeling of olfactory cilia architecture in C. elegans

27 September 2017

1 reference

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Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Identification of ciliary localization sequences within the third intracellular loop of G protein-coupled receptors

27 September 2017

1 reference

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27 September 2017

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Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease

27 September 2017

1 reference

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A tale of two signals: Wnt and Hedgehog in dentate neurogenesis

27 September 2017

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The developmental biology of Dishevelled: an enigmatic protein governing cell fate and cell polarity

27 September 2017

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Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes

27 September 2017

1 reference

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Cerebellar and brainstem development: an overview in relation to Joubert syndrome

27 September 2017

1 reference

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Expression of primary cilia in mammalian cells

27 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Bardet-biedl syndrome and brain abnormalities.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Selective targeting of somatostatin receptor 3 to neuronal cilia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Insertional mutagenesis and molecular analysis of a new gene associated with polycystic kidney disease.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation.

30 May 2018

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A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome

30 May 2018

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30 May 2018

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30 May 2018

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Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Diffusion tensor imaging in Joubert syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Flagellar motility is required for the viability of the bloodstream trypanosome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Analysis of xbx genes in C. elegans

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

A case of Joubert's syndrome with extensive cerebral malformations.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Neurobehavioral development in Joubert syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

28 November 2018

The purkinje cell cilium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2953617

Primary cilia in normal human neocortical neurons

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20097287

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20097287

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20097287

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NBD.2009.12.022

1 reference

4440050

4440050

1 reference

1 reference

1 reference