Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
about
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesMottled Mice and Non-Mammalian Models of Menkes DiseaseDisruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion 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 developmentConditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesisAbnormalities 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 mouseDefective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes diseaseCopper 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.Menkes disease: recent advances and new aspectsAnimal models for chronic obstructive pulmonary disease: age of klotho and marlboro mice.Animal models of chronic obstructive pulmonary disease.Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII.Chronic obstructive pulmonary disease * 3: Experimental animal models of pulmonary emphysema.Drug targets in Menkes disease - prospective developments.Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis.The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Animal models in chronic obstructive pulmonary disease-an overview.Localization of the Wilson disease protein in murine intestine.Copper and zinc metabolism in health and disease: speciation and interactions.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.Evidence for a Menkes-like protein with a nuclear targeting sequence.Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.Genes of the copper pathway.Counteract of bone marrow of blotchy mice against the increases of plasma copper levels induced by high-fat diets in LDLR-/- mice.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.Copper comes of age in Melbourne.Molecular mechanisms of copper metabolism and the role of the Menkes disease protein.Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels
P2860
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P2860
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
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
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
@ast
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
@en
type
label
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
@ast
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
@en
prefLabel
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
@ast
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
@en
P2093
P2860
P356
P1433
P1476
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.
@en
P2093
Ambrosini L
Lockhart P
Paynter JA
P2860
P2888
P304
P356
10.1038/NG0494-374
P407
P577
1994-04-01T00:00:00Z
P5875
P6179
1025268377