(Q24624573)

22 June 2017

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1 (English)

1 reference

22 June 2017

3

0 references

Pietro De Camilli

5

object named as

Pietro De Camilli

1 reference

22 June 2017

Laura E Swan

1

0 references

author name string

Livia Tomasini

2

1 reference

22 June 2017

Joël Lunardi

4

1 reference

22 June 2017

Michelle Pirruccello

3

1 reference

22 June 2017

language of work or name

English

0 references

publication date

2 February 2010

1 reference

Proceedings of the National Academy of Sciences of the United States of America

22 June 2017

1 reference

22 June 2017

107

1 reference

22 June 2017

3511-3516

1 reference

22 June 2017

8

1 reference

describes a project that uses

22 June 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2840420/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Differential clathrin binding and subcellular localization of OCRL1 splice isoforms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

A WD-FYVE protein binds to the kinases Akt and PKCzeta/lambda

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Dent Disease with mutations in OCRL1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

A novel B lymphocyte-associated adaptor protein, Bam32, regulates antigen receptor signaling downstream of phosphatidylinositol 3-kinase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

DAPP1: a dual adaptor for phosphotyrosine and 3-phosphoinositides

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

EEA1 links PI(3)K function to Rab5 regulation of endosome fusion

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Phosphoinositides in cell regulation and membrane dynamics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

A protein interaction map of Drosophila melanogaster

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Oculocerebrorenal syndrome of Lowe: Three mutations in theOCRL1 gene derived from three patients with different phenotypes

7 April 2017

1 reference

https://api.crossref.org/works/10.1073/PNAS.0914658107

Improving the photostability of bright monomeric orange and red fluorescent proteins

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Inherited cerebrorenal syndromes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

A phosphoinositide switch controls the maturation and signaling properties of APPL endosomes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

The role of the inositol polyphosphate 5-phosphatases in cellular function and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Mutations in phosphoinositide metabolizing enzymes and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Function and dysfunction of the PI system in membrane trafficking.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

The WD40 and FYVE domain containing protein 2 defines a class of early endosomes necessary for endocytosis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

An enzymatic cascade of Rab5 effectors regulates phosphoinositide turnover in the endocytic pathway

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Finding functional sequence elements by multiple local alignment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

HYPERCALCURIC RICKETS ASSOCIATED WITH RENAL TUBULAR DAMAGE.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

Fanconi or not Fanconi? Lowe syndrome revisited

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914658107

Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914658107

Renal manifestations of Dent disease and Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914658107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914658107

OCRL mutation analysis in Italian patients with Lowe syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914658107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914658107

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/10.1073%2FPNAS.0914658107

OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914658107

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2840420

28 November 2018

Identifiers

DOI

10.1073/PNAS.0914658107

1 reference

22 June 2017

0 references

0 references

1 reference