A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation.
about
Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7AMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesCellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disordersMolecular basis of neurodegeneration and neurodevelopmental defects in Menkes diseaseThe copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expressionNH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cellsPrediction of disease-related mutations affecting protein localization.Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease.Chemical and pharmacological chaperones as new therapeutic agents.Inside job: ligand-receptor pharmacology beneath the plasma membrane.Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.Pharmacological Chaperones: Potential for the Treatment of Hereditary Diseases Caused by Mutations in G Protein-Coupled Receptors
P2860
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P2860
A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation.
description
2002 nî lūn-bûn
@nan
2002 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
name
A conditional mutation affecti ...... ion by copper supplementation.
@ast
A conditional mutation affecti ...... ion by copper supplementation.
@en
A conditional mutation affecti ...... ion by copper supplementation.
@nl
type
label
A conditional mutation affecti ...... ion by copper supplementation.
@ast
A conditional mutation affecti ...... ion by copper supplementation.
@en
A conditional mutation affecti ...... ion by copper supplementation.
@nl
prefLabel
A conditional mutation affecti ...... ion by copper supplementation.
@ast
A conditional mutation affecti ...... ion by copper supplementation.
@en
A conditional mutation affecti ...... ion by copper supplementation.
@nl
P2093
P2860
P356
P1476
A conditional mutation affecti ...... sion by copper supplementation
@en
P2093
Byung-Eun Kim
Carisa K Meagher
Kathryn Smith
P2860
P304
44079-44084
P356
10.1074/JBC.M208737200
P407
P577
2002-09-06T00:00:00Z