(Q37092045)

18 August 2017

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein (English)

1 reference

18 August 2017

Paloma Dominguez Gimenez

Paloma Dominguez Gimenez

3

0 references

Christina Zeitz

Christina Zeitz

2

0 references

Isabelle Audo

Isabelle Audo

4

0 references

José-Alain Sahel

José-Alain Sahel

10

0 references

Marie-Elise Lancelot

9

Marie-Elise Lancelot

1 reference

18 August 2017

Veselina Moskova-Doumanova

8

Veselina Moskova-Doumanova

1 reference

18 August 2017

Jordan A Doumanov

1

1 reference

18 August 2017

Abhay Krishna

5

1 reference

18 August 2017

Giovanna Alfano

6

1 reference

18 August 2017

Maria Luz Bellido Diaz

7

1 reference

18 August 2017

Emeline F Nandrot

11

1 reference

18 August 2017

Shomi S Bhattacharya

12

1 reference

18 August 2017

language of work or name

English

0 references

publication date

22 July 2013

1 reference

18 August 2017

20

1 reference

International Journal of Molecular Sciences

inferred from page(s)

published in

1 reference

18 August 2017

14

1 reference

18 August 2017

7

1 reference

18 August 2017

15121-15140

1 reference

Creative Commons Attribution 4.0 International

18 August 2017

start time

22 July 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3742291/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Drosophila bestrophin-1 currents are regulated by phosphorylation via a CaMKII dependent mechanism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Channel-mediated astrocytic glutamate release via Bestrophin-1 targets synaptic NMDARs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

TREK-1 and Best1 channels mediate fast and slow glutamate release in astrocytes upon GPCR activation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Interaction of bestrophin-1 and Ca2+ channel β-subunits: identification of new binding domains on the bestrophin-1 C-terminus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Apical trafficking in epithelial cells: signals, clusters and motors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Dysregulation of human bestrophin-1 by ceramide-induced dephosphorylation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Functional properties of murine bestrophin 1 channel

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Functional roles of bestrophins in ocular epithelia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

The spectrum of ocular phenotypes caused by mutations in the BEST1 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=3742291

Regulation of bestrophins by Ca2+: a theoretical and experimental study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Coordinated protein sorting, targeting and distribution in polarized cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Clathrin is a key regulator of basolateral polarity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Bestrophin Cl- channels are highly permeable to HCO3-

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Essential role for MFG-E8 as ligand for alphavbeta5 integrin in diurnal retinal phagocytosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Focus on molecules: bestrophin (best-1).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Organization of vesicular trafficking in epithelia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Polarized sorting in epithelial cells: raft clustering and the biogenesis of the apical membrane

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

A model of best vitelliform macular dystrophy in rats

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

The basolateral targeting signal of CD147 (EMMPRIN) consists of a single leucine and is not recognized by retinal pigment epithelium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Polarity and lipid raft association of the components of the ciliary neurotrophic factor receptor complex in Madin-Darby canine kidney cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Structure-function analysis of the bestrophin family of anion channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Bestrophin interacts physically and functionally with protein phosphatase 2A

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

The vitelliform macular dystrophy protein defines a new family of chloride channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Allelic variation in the VMD2 gene in best disease and age-related macular degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Epithelial polarity: sorting out the sorters.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Identification of the gene responsible for Best macular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Polarized apical distribution of glycosyl-phosphatidylinositol-anchored proteins in a renal epithelial cell line

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Best's vitelliform dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Polarity of epithelial and neuronal cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Mechanisms and functional features of polarized membrane traffic in epithelial and hepatic cells

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Origin and sensitivity of the light peak in the intact cat eye.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Cloning and characterization of the murine Vmd2 RFP-TM gene family.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Expression and localization of bestrophin during normal mouse development

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3742291

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

3 September 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS140715121

Increased association with detergent-resistant membranes/lipid rafts of apically targeted mutants of the interleukin-6 receptor gp80

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS140715121

Identification of a basolateral sorting signal within the cytoplasmic domain of the interleukin-6 signal transducer gp130

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS140715121

Differential Macular and Peripheral Expression of Bestrophin in Human Eyes and Its Implication for Best Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS140715121

Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23880862

12 December 2020

inferred from PubMed ID database lookup

Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23880862

12 December 2020

inferred from PubMed ID database lookup

Histopathology of Best's macular dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23880862

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.3390/IJMS140715121

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

23880862

1 reference