A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.

A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.

Item
http://www.wikidata.org/entity/Q32086009
The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 proteinMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyCopper directs ATP7B to the apical domain of hepatic cells via basolateral endosomesDegradation of the apical sodium-dependent bile acid transporter by the ubiquitin-proteasome pathway in cholangiocytesMorphological and functional imaging in neurological and non-neurological Wilson's patients.Bile formation and secretion.Hepatic transport systems.Bile acid-induced Mallory body formation in drug-primed mouse liver.Pathogenesis and management of Wilson disease.Release of Vesicular Stomatitis Virus Spike Protein G-Pseudotyped Lentivirus from the Host Cell Is Impaired upon Low-Density Lipoprotein Receptor OverexpressionDistinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H.A valine to phenylalanine mutation in the precore region of hepatitis B virus causes intracellular retention and impaired secretion of HBe-antigen.The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.Copper incorporation into ceruloplasmin is regulated by Niemann-Pick C1 protein.
P2860

A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.

Item
http://www.wikidata.org/entity/Q32086009
description
2001 nî lūn-bûn
@nan
2001 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մարտին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A mutation of the Wilson disea ...... and forms protein aggregates.
@ast
A mutation of the Wilson disea ...... and forms protein aggregates.
@en
type
label
A mutation of the Wilson disea ...... and forms protein aggregates.
@ast
A mutation of the Wilson disea ...... and forms protein aggregates.
@en
prefLabel
A mutation of the Wilson disea ...... and forms protein aggregates.
@ast
A mutation of the Wilson disea ...... and forms protein aggregates.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
A mutation of the Wilson disea ...... and forms protein aggregates.
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P698