ライフサイエンスコーパス: Menkes disease

1 n an untreatable neurodegenerative disorder, Menkes disease.

2 One, ATP7A, is the protein nonfunctional in Menkes disease.

3 defective in the copper deficiency disorder, Menkes disease.

4 runcation that results in OHS rather than in Menkes disease.

5 phenotype, OHS, rather than the phenotype of Menkes disease.

6 s of Cu(2+)-ATPases, defective in Wilson and Menkes disease.

7 may ameliorate noradrenergic hypofunction in Menkes disease.

8 may ameliorate noradrenergic hypofunction in Menkes disease.

9 of various mutations that lead to Wilson and Menkes diseases.

10 Comparisons to the Wilson and Menkes disease A-domains reveal the presence of an addit

11 Mutations in ATP7A result in Menkes disease, a disorder of copper metabolism.

12 This requirement is underscored by Menkes disease, a fatal neurodegenerative disorder of ch

13 Menkes disease, a fatal neurodegenerative disorder resul

14 This requirement in humans is underscored by Menkes disease, an X-linked copper deficiency disorder c

15 e first conditional mutation associated with Menkes disease and demonstrate correction of the misloca

16 Menkes disease and occipital horn syndrome (OHS) are all

17 cally distinct X-linked inherited disorders: Menkes disease and occipital horn syndrome (OHS).

18 Human Menkes disease and the murine Mottled phenotype are X-li

19 s of ATP7A activity is associated with fatal Menkes disease and various other pathologies.

20 Menkes disease and Wilson disease are human disorders of

21 re mutated in the copper imbalance syndromes Menkes disease and Wilson disease, respectively.

22 lead to severe neurodegenerative disorders, Menkes disease and Wilson disease, respectively.

23 is of Cu-related genetic diseases, including Menkes disease and Wilson disease.

24 disorders of intracellular copper transport, Menkes disease and Wilson disease.

25 Wilson and Menkes diseases are genetic disorders of copper metaboli

26 Menkes disease arises from a genetic impairment in coppe

27 The gene defective in Menkes disease (ATP7A) encodes a copper transporting P-t

28 Finally, several mutations in the Wilson and Menkes disease ATPases occur in the A-domain, and their

29 ly and is homologous to the human Wilson and Menkes disease ATPases.

30 is process, which requires both Gef1 and the Menkes disease Cu2+-ATPase yeast homolog Ccc2, occurs in

31 and oxaliplatin was investigated using human Menkes' disease fibroblasts (Me32a) that do not express

32 at is localized between exons 1 and 2 of the Menkes disease gene (ATP7 A, MNK) at Xq13.3.

33 y been shown to result from mutations in the Menkes disease gene (MNK), which encodes a copper-transp

34 The Menkes disease gene encodes a P-type transmembrane ATPas

35 ntaining the open reading frame of the human Menkes disease gene was constructed and used to transfor

36 Classic Menkes disease has a severe phenotype, with death in ear

37 well as the development of novel models for Menkes disease have permitted a greater understanding of

38 cipital horn syndrome, an allelic variant of Menkes disease, have demonstrated that only this alterna

39 Menkes disease is a fatal neurodegenerative disorder due

40 Menkes disease is a fatal neurodegenerative disorder of

41 Menkes disease is a fatal neurodegenerative disorder of

42 Menkes disease is a fatal X-linked disorder of copper me

43 Menkes disease is a lethal neurodegenerative disorder of

44 Retinopathy in Wilson and Menkes diseases may result not only from abnormal system

45 Menkes' disease (MD) and occipital horn syndrome (OHS) a

46 Wilson disease (WD) and Menkes disease (MNK) are inherited disorders of copper m

47 In a well-established mouse model of Menkes disease, mottled-brindled (mo-br), we tested whet

48 In this study, a Menkes disease mutation, G1019D, located in the large cy

49 detected in fibroblasts from a patient with Menkes disease or in Hep3B hepatocellular carcinoma cell

50 Defects in ATP7A lead to Menkes disease or its milder variant, occipital horn syn

51 diverse mutations lead to X-linked recessive Menkes disease or occipital horn syndrome.

52 ys using cultured fibroblasts from a classic Menkes disease patient all indicated small amounts of na

53 Using fibroblasts from Menkes disease patients and mouse 3T3-L1 cells with a CR

54 The Menkes disease protein (ATP7A or MNK) is a P-type transm

55 ering one Cu(I) ion to the Wilson's (WND) or Menkes disease protein (MNK).

56 Atox1 interacts with Menkes disease protein and Wilson disease protein (WD) a

57 These data demonstrate that the Menkes disease protein functions to deliver copper into

58 In order to investigate the role of the Menkes disease protein in copper transport, recombinant

59 cc2, a P-type ATPase related to human ATP7A (Menkes disease protein) and ATP7B (Wilson disease protei

60 smin, from PN to Bergmann glia, where ATP7A (Menkes disease protein) is present.

61 To elucidate the function of the Menkes disease protein, a plasmid containing the open re

62 N-terminal domains of the Wilson's and Menkes disease proteins (N-WND and N-MNK) were overexpre

63 y the RAN1 gene is similar to the Wilson and Menkes disease proteins and yeast Ccc2 protein, which ar

64 rs Cu to metal-binding domains of Wilson and Menkes disease proteins in the cytoplasm.

65 ting adenosine triphosphatases (Wilson's and Menkes disease proteins).

66 that are homologous to the human Wilson and Menkes disease proteins.

67 amily, which includes the related Wilson and Menkes diseases proteins.

68 copper transporter and serve as a model for Menkes disease, provided an in vivo partial loss-of-func

69 nts, we have identified a zebrafish model of Menkes disease termed calamity that results from splicin

70 etic studies identified a zebrafish model of Menkes disease that can be used for high-throughput ther

71 This in vivo correction of Menkes disease through the rescue of aberrant splicing m

72 hallmark of pathologies such as Wilson's and Menkes diseases, various neurodegenerative diseases, and

73 y disorders (i.e. anaemia, haemochromatosis, Menkes disease, Wilson's disease), and neurodegenerative