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1 tled-brindled mouse-a murine model of severe Menkes disease.
2 s in the copper (Cu) transporter ATP7A cause Menkes disease.
3 may ameliorate noradrenergic hypofunction in Menkes disease.
4 n an untreatable neurodegenerative disorder, Menkes disease.
5  One, ATP7A, is the protein nonfunctional in Menkes disease.
6 defective in the copper deficiency disorder, Menkes disease.
7 runcation that results in OHS rather than in Menkes disease.
8 phenotype, OHS, rather than the phenotype of Menkes disease.
9 s of Cu(2+)-ATPases, defective in Wilson and Menkes disease.
10 tment of copper deficiency disorders such as Menkes disease.
11 t combination in affected male newborns with Menkes disease.
12 may ameliorate noradrenergic hypofunction in Menkes disease.
13 of various mutations that lead to Wilson and Menkes diseases.
14                Comparisons to the Wilson and Menkes disease A-domains reveal the presence of an addit
15                 Mutations in ATP7A result in Menkes disease, a disorder of copper metabolism.
16           This requirement is underscored by Menkes disease, a fatal neurodegenerative disorder of ch
17                                              Menkes disease, a fatal neurodegenerative disorder resul
18 This requirement in humans is underscored by Menkes disease, an X-linked copper deficiency disorder c
19 e first conditional mutation associated with Menkes disease and demonstrate correction of the misloca
20 nd frequently fatal human disorders, such as Menkes disease and Friedreich's ataxia.
21                                              Menkes disease and occipital horn syndrome (OHS) are all
22 cally distinct X-linked inherited disorders: Menkes disease and occipital horn syndrome (OHS).
23 copper-deficiency-related characteristics of Menkes disease and the copper-toxicity-related character
24                                        Human Menkes disease and the murine Mottled phenotype are X-li
25 s of ATP7A activity is associated with fatal Menkes disease and various other pathologies.
26                                              Menkes disease and Wilson disease are human disorders of
27 asis, ATP7A and ATP7B, genes associated with Menkes disease and Wilson disease, respectively, reveale
28 re mutated in the copper imbalance syndromes Menkes disease and Wilson disease, respectively.
29  lead to severe neurodegenerative disorders, Menkes disease and Wilson disease, respectively.
30  -transporting ATPases ATP7A and ATP7B cause Menkes disease and Wilson disease, respectively.
31 is of Cu-related genetic diseases, including Menkes disease and Wilson disease.
32 disorders of intracellular copper transport, Menkes disease and Wilson disease.
33 s of two classic disorders of Cu metabolism, Menkes disease and Wilson's disease, which paved the way
34                                   Wilson and Menkes diseases are genetic disorders of copper metaboli
35                                              Menkes disease arises from a genetic impairment in coppe
36                        The gene defective in Menkes disease (ATP7A) encodes a copper transporting P-t
37 Finally, several mutations in the Wilson and Menkes disease ATPases occur in the A-domain, and their
38 ly and is homologous to the human Wilson and Menkes disease ATPases.
39 is process, which requires both Gef1 and the Menkes disease Cu2+-ATPase yeast homolog Ccc2, occurs in
40 and oxaliplatin was investigated using human Menkes' disease fibroblasts (Me32a) that do not express
41 at is localized between exons 1 and 2 of the Menkes disease gene (ATP7 A, MNK) at Xq13.3.
42 y been shown to result from mutations in the Menkes disease gene (MNK), which encodes a copper-transp
43                                          The Menkes disease gene encodes a P-type transmembrane ATPas
44 ntaining the open reading frame of the human Menkes disease gene was constructed and used to transfor
45                                      Classic Menkes disease has a severe phenotype, with death in ear
46  well as the development of novel models for Menkes disease have permitted a greater understanding of
47 cipital horn syndrome, an allelic variant of Menkes disease, have demonstrated that only this alterna
48                                              Menkes disease is a fatal neurodegenerative disorder due
49                                              Menkes disease is a fatal neurodegenerative disorder of
50                                              Menkes disease is a fatal neurodegenerative disorder of
51                                              Menkes disease is a fatal X-linked disorder of copper me
52                                              Menkes disease is a lethal neurodegenerative disorder of
53                                              Menkes disease is an X-linked recessive condition charac
54                    Retinopathy in Wilson and Menkes diseases may result not only from abnormal system
55                                              Menkes' disease (MD) and occipital horn syndrome (OHS) a
56                      Wilson disease (WD) and Menkes disease (MNK) are inherited disorders of copper m
57         In a well-established mouse model of Menkes disease, mottled-brindled (mo-br), we tested whet
58                             In this study, a Menkes disease mutation, G1019D, located in the large cy
59  detected in fibroblasts from a patient with Menkes disease or in Hep3B hepatocellular carcinoma cell
60                     Defects in ATP7A lead to Menkes disease or its milder variant, occipital horn syn
61 diverse mutations lead to X-linked recessive Menkes disease or occipital horn syndrome.
62 ys using cultured fibroblasts from a classic Menkes disease patient all indicated small amounts of na
63                       Using fibroblasts from Menkes disease patients and mouse 3T3-L1 cells with a CR
64                                          The Menkes disease protein (ATP7A or MNK) is a P-type transm
65 ering one Cu(I) ion to the Wilson's (WND) or Menkes disease protein (MNK).
66                         Atox1 interacts with Menkes disease protein and Wilson disease protein (WD) a
67              These data demonstrate that the Menkes disease protein functions to deliver copper into
68      In order to investigate the role of the Menkes disease protein in copper transport, recombinant
69 cc2, a P-type ATPase related to human ATP7A (Menkes disease protein) and ATP7B (Wilson disease protei
70 smin, from PN to Bergmann glia, where ATP7A (Menkes disease protein) is present.
71             To elucidate the function of the Menkes disease protein, a plasmid containing the open re
72       N-terminal domains of the Wilson's and Menkes disease proteins (N-WND and N-MNK) were overexpre
73 y the RAN1 gene is similar to the Wilson and Menkes disease proteins and yeast Ccc2 protein, which ar
74 rs Cu to metal-binding domains of Wilson and Menkes disease proteins in the cytoplasm.
75 ting adenosine triphosphatases (Wilson's and Menkes disease proteins).
76  that are homologous to the human Wilson and Menkes disease proteins.
77 amily, which includes the related Wilson and Menkes diseases proteins.
78  copper transporter and serve as a model for Menkes disease, provided an in vivo partial loss-of-func
79 nts, we have identified a zebrafish model of Menkes disease termed calamity that results from splicin
80 etic studies identified a zebrafish model of Menkes disease that can be used for high-throughput ther
81                   This in vivo correction of Menkes disease through the rescue of aberrant splicing m
82 hallmark of pathologies such as Wilson's and Menkes diseases, various neurodegenerative diseases, and
83 y disorders (i.e. anaemia, haemochromatosis, Menkes disease, Wilson's disease), and neurodegenerative