The mottled gene is the mouse homologue of the Menkes disease gene.
about
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesAortic wall damage in mice unable to synthesize ascorbic acidMottled Mice and Non-Mammalian Models of Menkes DiseaseMolecular genetics and pathophysiology of Menkes diseaseATP7A-related copper transport diseases-emerging concepts and future trendsOccipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locusThe copper transporter CTR1 provides an essential function in mammalian embryonic developmentAbnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes diseaseExperimental cerebral aneurysms in the female heterozygous Blotchy mouseCopper binding to mouse liver S-adenosylhomocysteine hydrolase and the effects of copper on its levels.Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes.Menkes disease.Unraveling the mechanism of elastic fiber assembly: The roles of short fibulinsCopper and human health: biochemistry, genetics, and strategies for modeling dose-response relationships.Drug targets in Menkes disease - prospective developments.ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse modelMining copper transport genes.Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis.Human macrophage ATP7A is localized in the trans-Golgi apparatus, controls intracellular copper levels, and mediates macrophage responses to dermal wounds.Zebrafish in the sea of mineral (iron, zinc, and copper) metabolism.An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Localization of the Wilson disease protein in murine intestine.Menkes disease: recent advances and new insights into copper metabolism.Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.Genes of the copper pathway.Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.Copper accumulation in rodent brain astrocytes: A species difference.Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse.Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease.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.Molecular mechanisms of copper metabolism and the role of the Menkes disease protein.Metabolic etiologies in West syndrome.Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels
P2860
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P2860
The mottled gene is the mouse homologue of the Menkes disease gene.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
The mottled gene is the mouse homologue of the Menkes disease gene.
@en
type
label
The mottled gene is the mouse homologue of the Menkes disease gene.
@en
prefLabel
The mottled gene is the mouse homologue of the Menkes disease gene.
@en
P2093
P2860
P356
P1433
P1476
The mottled gene is the mouse homologue of the Menkes disease gene.
@en
P2093
P2860
P2888
P304
P356
10.1038/NG0494-369
P407
P577
1994-04-01T00:00:00Z
P5875
P6179
1001721837