ATP8B1 is essential for maintaining normal hearing (Q28593592)

GOA release 2020-03-11

author name string

Janneke M. Stapelbroek

1

1 reference

31 January 2017

Theo A. Peters

2

1 reference

31 January 2017

Denis H. A. van Beurden

3

1 reference

31 January 2017

Jo H. A. J. Curfs

4

1 reference

31 January 2017

Anneke Joosten

5

1 reference

31 January 2017

Andy J. Beynon

6

1 reference

31 January 2017

Bibian M. van Leeuwen

7

1 reference

31 January 2017

Lieke M. van der Velden

8

1 reference

31 January 2017

Laura Bull

9

1 reference

31 January 2017

Ronald P. Oude Elferink

10

1 reference

31 January 2017

Bert A. van Zanten

11

1 reference

31 January 2017

Leo W. J. Klomp

12

1 reference

31 January 2017

Roderick H. J. Houwen

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

13

1 reference

31 January 2017

language of work or name

English

0 references

publication date

16 June 2009

1 reference

31 January 2017

1 reference

31 January 2017

106

1 reference

31 January 2017

24

1 reference

31 January 2017

9709–9714

1 reference

31 January 2017

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Rapid turnover of stereocilia membrane proteins: evidence from the trafficking and mobility of plasma membrane Ca(2+)-ATPase 2.

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Essential role of retinoblastoma protein in mammalian hair cell development and hearing

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Loss of P4 ATPases Drs2p and Dnf3p disrupts aminophospholipid transport and asymmetry in yeast post-Golgi secretory vesicles

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

A Receptor-Like Inositol Lipid Phosphatase Is Required for the Maturation of Developing Cochlear Hair Bundles

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

PMCA2 mutation causes structural changes in the auditory system in deafwaddler mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Familial intrahepatic cholestasis 1: studies of localization and function

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

A missense mutation in FIC1 is associated with greenland familial cholestasis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Balance and hearing deficits in mice with a null mutation in the gene encoding plasma membrane Ca2+-ATPase isoform 2

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Quiet as a mouse: dissecting the molecular and genetic basis of hearing

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Lipids and lipid modifications in the regulation of membrane traffic

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

The micromachinery of mechanotransduction in hair 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=2700994

Hair bundles are specialized for ATP delivery via creatine kinase.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Lipid asymmetry of the eukaryotic plasma membrane: functions and related enzymes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Hair-cell mechanotransduction and cochlear amplification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human 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=2700994

Lipid traffic: floppy drives and a superhighway.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Identification of a functional role for lipid asymmetry in biological membranes: Phosphatidylserine-skeletal protein interactions modulate membrane stability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

FIC1 disease: a spectrum of intrahepatic cholestatic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Plasma membrane Ca2+-ATPase isoform 2a is the PMCA of hair bundles.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Membrane phospholipid asymmetry and signal transduction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Age effect in hearing - a comparative analysis of published threshold data

29 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

29 September 2017

https://api.crossref.org/works/10.1073%2FPNAS.0807919106

The influence of membrane lipid structure on plasma membrane Ca2+ -ATPase activity

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity

3 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0807919106

Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0807919106

Sensorineural hearing loss associated with Byler disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0807919106

Apical phosphatidylserine externalization in auditory hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0807919106

Structure of the P-type ATPases

21 January 2018

2 references

https://api.crossref.org/works/10.1073%2FPNAS.0807919106

21 January 2018

12 December 2020

Hair cells require phosphatidylinositol 4,5-bisphosphate for mechanical transduction and adaptation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Confirmation of transiently evoked otoacoustic emissions based on user-independent criteria.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700994

Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin

27 November 2018

1 reference

PubMed

12 December 2020

Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation

1 reference

PubMed

12 December 2020

Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1073/PNAS.0807919106

1 reference

4603690

ADS bibcode

2009PNAS..106.9709S

0 references

4603690

1 reference

1 reference

1 reference