Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease
about
Signals regulating trafficking of Menkes (MNK; ATP7A) copper-translocating P-type ATPase in polarized MDCK cellsNeonatal diagnosis and treatment of Menkes diseaseMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesThe copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expressionATP7A-related copper transport diseases-emerging concepts and future trendsA novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes diseaseDefective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementationSLC11A1 (formerly NRAMP1) and disease resistance.Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.Drug targets in Menkes disease - prospective developments.The molecular and genetic base of congenital transport defectsDifferences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndromeDiagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.The mild form of menkes disease: a 34 year progress report on the original case.Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites.Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes diseasePhenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate.A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.ATP7A transports cytosolic Cu2+ to extracellular regionIn Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.Copper comes of age in Melbourne.Activation of ADP-ribosylation factor regulates biogenesis of the ATP7A-containing trans-Golgi network compartment and its Cu-induced trafficking
P2860
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P2860
Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease
description
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1999
@ast
im August 1999 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1999/08/01)
@sk
vědecký článek publikovaný v roce 1999
@cs
wetenschappelijk artikel (gepubliceerd op 1999/08/01)
@nl
наукова стаття, опублікована в серпні 1999
@uk
مقالة علمية (نشرت في أغسطس 1999)
@ar
name
Defective copper-induced traff ...... eated classical Menkes disease
@ast
Defective copper-induced traff ...... eated classical Menkes disease
@en
Defective copper-induced traff ...... eated classical Menkes disease
@nl
type
label
Defective copper-induced traff ...... eated classical Menkes disease
@ast
Defective copper-induced traff ...... eated classical Menkes disease
@en
Defective copper-induced traff ...... eated classical Menkes disease
@nl
prefLabel
Defective copper-induced traff ...... eated classical Menkes disease
@ast
Defective copper-induced traff ...... eated classical Menkes disease
@en
Defective copper-induced traff ...... eated classical Menkes disease
@nl
P2860
P356
P1476
Defective copper-induced traff ...... eated classical Menkes disease
@en
P2093
J. F. Mercer
L. Ambrosini
P2860
P304
P356
10.1093/HMG/8.8.1547
P577
1999-08-01T00:00:00Z