Impaired neural development in a zebrafish model for Lowe syndrome (Q30512197)

10 August 2017

Impaired neural development in a zebrafish model for Lowe syndrome (English)

1 reference

10 August 2017

0 references

7

Adam F L Hurlstone

1 reference

10 August 2017

4

Nullin Divecha

1 reference

10 August 2017

6

Scott C Baraban

1 reference

10 August 2017

3

David R Jones

1 reference

10 August 2017

Irene Barinaga-Rementeria Ramirez

1

1 reference

10 August 2017

Grzegorz Pietka

2

1 reference

10 August 2017

A Alia

5

1 reference

10 August 2017

Martin Lowe

8

1 reference

10 August 2017

30 December 2011

1 reference

10 August 2017

Human Molecular Genetics

1 reference

10 August 2017

21

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10 August 2017

1744-1759

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10 August 2017

8

1 reference

describes a project that uses

10 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3313792/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Recruitment of actin modifiers to TrkA endosomes governs retrograde NGF signaling and survival

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

The PtdIns(3,4)P(2) phosphatase INPP4A is a suppressor of excitotoxic neuronal death

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Differential clathrin binding and subcellular localization of OCRL1 splice isoforms

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Targeting of the type II inositol polyphosphate 5-phosphatase INPP5B to the early secretory pathway

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

p53 activation by knockdown technologies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

A large-scale mutagenesis screen to identify seizure-resistant zebrafish

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Structure and function of the Lowe syndrome protein OCRL1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Dent Disease with mutations in OCRL1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

The coiled-coil membrane protein golgin-84 is a novel rab effector required for Golgi ribbon formation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Retrograde neurotrophin signaling: Trk-ing along the axon

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

The identification of phosphatidylinositol 3,5-bisphosphate in T-lymphocytes and its regulation by interleukin-2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Properties of type II inositol polyphosphate 5-phosphatase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Identification and isolation of a 75-kDa inositol polyphosphate-5-phosphatase from human platelets

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis.

28 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

OCRL1 function in renal epithelial membrane traffic

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

The inositol 5-phosphatase dOCRL controls PI(4,5)P2 homeostasis and is necessary for cytokinesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR608

Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3313792

Oculocerebrorenal syndrome of Lowe: magnetic resonance imaging findings in the first six years of life

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22210625

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR608

1 reference

release_z4plylp3mzgsnmlkdz6p2rx3qq

10 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/z4plylp3mzgsnmlkdz6p2rx3qq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

10 August 2017

1 reference