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Interactomes of WT and H1069Q variants of ATP7B

ABSTRACT: The H1069Q substitution in the liver-specific copper transporter ATP7B represents the major cause of Wilson disease. The mutated ATP7B undergoes rapid degradation in the endoplasmic reticulum (ER) and fails to reach copper excretion compartments thus causing severe copper toxicosis in patients. Modulating the ATP7B-H1069Q interactome was proposed as a rescue strategy but specific binding partners that might be targeted for mutant correction remain elusive. Here we try to identify a mutant-specific interactor for the pharmacological rescue of ATP7B-H1069Q.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Hepatocyte, Cell Culture

DISEASE(S): Wilson Disease

SUBMITTER: Roman Polishchuk

LAB HEAD: Roman Polishchuk

PROVIDER: PXD016816 | Pride | 2020-12-11

REPOSITORIES: Pride

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			Action	DRS
	C140723_033.msf	Msf
	C140723_033.raw	Raw
	F152659.dat	Other
	F152659.mgf	Mgf
	F152659.mzid	Mzid

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Publications

DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis.

Kälin N N Claass A A Sommer M M Puchelle E E Tümmler B B

The Journal of clinical investigation 19990501 10

Heterologous expression of the cystic fibrosis transmembrane conductance regulator (CFTR) provided evidence that the major cystic fibrosis (CF) mutation DeltaF508 leads to defective protein folding in the endoplasmic reticulum, which prevents its processing and targeting to the cell surface. In this study, we investigated endogenous CFTR expression in skin biopsies and respiratory and intestinal tissue specimens from DeltaF508 homozygous and non-CF patients, using immunohistochemical and immunob ...[more]

PMID: 10330420

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