Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. (Q40442461)

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10 January 2020

title

Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11 (English)

1 reference

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10 January 2020

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10 January 2020

Tappei Takada

1 reference

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10 January 2020

Hiroshi Suzuki

series ordinal

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10 January 2020

Hidetaka Akita

series ordinal

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10 January 2020

Yuichi Sugiyama

series ordinal

1 reference

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10 January 2020

language of work or name

English

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publication date

1 April 2005

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10 January 2020

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10 January 2020

volume

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10 January 2020

issue

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10 January 2020

page(s)

916-924

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A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2).

10 January 2020

cites work

1 reference

The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver

21 January 2018

1 reference

7 January 2021

Functional expression of the canalicular bile salt export pump of human liver

1 reference

7 January 2021

The human bile salt export pump: characterization of substrate specificity and identification of inhibitors

1 reference

7 January 2021

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

1 reference

7 January 2021

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

1 reference

7 January 2021

BSEP: function and role in progressive familial intrahepatic cholestasis

1 reference

7 January 2021

A progressive familial intrahepatic cholestasis type 2 mutation causes an unstable, temperature-sensitive bile salt export pump.

1 reference

7 January 2021

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1 reference

7 January 2021

Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome

1 reference

7 January 2021

Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome

1 reference

7 January 2021

Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome

1 reference

7 January 2021

Characterization of bile acid transport mediated by multidrug resistance associated protein 2 and bile salt export pump

1 reference

7 January 2021

ABCG2 transports sulfated conjugates of steroids and xenobiotics

1 reference

7 January 2021

Transcellular transport of organic anions across a double-transfected Madin-Darby canine kidney II cell monolayer expressing both human organic anion-transporting polypeptide (OATP2/SLC21A6) and Multidrug resistance-associated protein 2 (MRP2/ABCC2)

1 reference

7 January 2021

Degradation of CFTR by the ubiquitin-proteasome pathway

1 reference

7 January 2021

ER quality control: the cytoplasmic connection

1 reference

7 January 2021

A principal role for the proteasome in endoplasmic reticulum-associated degradation of misfolded intracellular cystic fibrosis transmembrane conductance regulator

1 reference

7 January 2021

The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR.

1 reference

7 January 2021

In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR

1 reference

7 January 2021

A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function

1 reference

7 January 2021