Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

about

The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.

P2860

Q46108156-5462BC85-6C34-44B1-98EB-4A9A668631C2

P2860

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

Item

http://www.wikidata.org/entity/Q42189067

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

@zh-hant

name

Characterization of ATP7A miss ...... and severity of Menkes disease

@en

Characterization of ATP7A miss ...... and severity of Menkes disease

@nl

type

Item

label

Characterization of ATP7A miss ...... and severity of Menkes disease

@en

Characterization of ATP7A miss ...... and severity of Menkes disease

@nl

prefLabel

Characterization of ATP7A miss ...... and severity of Menkes disease

@en

Characterization of ATP7A miss ...... and severity of Menkes disease

@nl

P1476

Characterization of ATP7A miss ...... and severity of Menkes disease

@en

P2093

Per Amstrup Pedersen

http://www.w3.org/2001/XMLSchema#string

Sidsel Salling Thorborg

http://www.w3.org/2001/XMLSchema#string

Tina Skjørringe

http://www.w3.org/2001/XMLSchema#string

P2860

Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p

Functional properties of the human copper-transporting ATPase ATP7B (the Wilson's disease protein) and regulation by metallochaperone Atox1

Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC)

Crystal structure of a copper-transporting PIB-type ATPase

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

A catalogue of splice junction sequences

Nonsense-mediated mRNA decay in humans at a glance

P2888

s41598-017-00618-6

P304

757

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1038/S41598-017-00618-6

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Poul Nissen

Pontus Gourdon

Lisbeth Birk Møller

P577

2017-04-07T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P6179

1084537844

http://www.w3.org/2001/XMLSchema#string

P698

28389643

http://www.w3.org/2001/XMLSchema#string

P932

5428812

http://www.w3.org/2001/XMLSchema#string

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

about

P2860

P2860

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P6179

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P6179

P698

P932