ライフサイエンスコーパス: Menkes

1 Menkes and Wilson diseases are associated with retinal d

2 Menkes ATPase (MNK) has been shown to transport cytosoli

3 Menkes ATPase is directly required for this copper efflu

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

5 Menkes disease and Wilson disease are human disorders of

6 Menkes disease arises from a genetic impairment in coppe

7 Menkes disease is a fatal neurodegenerative disorder due

8 Menkes disease is a fatal neurodegenerative disorder of

9 Menkes disease is a fatal neurodegenerative disorder of

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

11 Menkes disease is a lethal neurodegenerative disorder of

12 Menkes disease, a fatal neurodegenerative disorder resul

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

14 aspects of copper histidine treatment in 25 Menkes syndrome patients at the National Institutes of H

15 and mutant Wilson cDNAs were expressed in a Menkes copper transporter-deficient mottled fibroblast c

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

17 RNA blot analysis revealed abundant Menkes gene expression in several cell lines, and immuno

18 is in the CNS, a polyclonal antisera against Menkes ATPase was used in immunoblot and immunohistochem

19 nction, intracellular copper metabolism, and Menkes ATPase abundance, localization and trafficking we

20 Cu incorporation into SOD in both normal and Menkes lymphoblasts, which is consistent with 64Cu incor

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

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

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

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

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

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

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

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

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

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

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

32 Wilson and Menkes diseases are genetic disorders of copper metaboli

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

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

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

36 was undertaken to assess retinal Wilson and Menkes expression and localization.

37 To determine whether the Wilson and Menkes genes may act locally in the retina, this study w

38 used to test for the presence of Wilson and Menkes mRNAs in mouse and human retinas and retinal pigm

39 The WND and Menkes proteins are distinguished from other P-type ATPa

40 caused by mutations in the Wilson (WND) and Menkes (MNK) copper-transporting P1B-type ATPases.

41 asis is connected to severe diseases such as Menkes and Wilson diseases, Alzheimer's disease, prion d

42 er 1) but also by the copper exporter ATP7A (Menkes ATPase), whose function is achieved through coppe

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

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

45 ng domains (MBDs) of the two P-type ATPases (Menkes and Wilson disease proteins), the destination for

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

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

48 Defects in copper metabolism cause Menkes and Wilson's disease, myeloneuropathy, and cardio

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

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

51 nd the effects of genetic copper deficiency (Menkes syndrome) and copper overload (Wilson disease).

52 arcinoma placental cell line, behaved as did Menkes fibroblasts by avidly absorbing copper but not re

53 defective in the copper deficiency disorder, Menkes disease.

54 n an untreatable neurodegenerative disorder, Menkes disease.

55 the copper deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-

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

57 er deficiency and copper toxicity disorders, Menkes and Wilson diseases, respectively.

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

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

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

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

62 in the cloning of the genes responsible for Menkes syndrome and Wilson disease.

63 ether, these data reveal a critical role for Menkes ATPase in the availability of an NMDA receptor-de

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

65 urons derived from mice lacking a functional Menkes ATPase demonstrated no copper release.

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

67 es related to intestinal copper homeostasis (Menkes Copper ATPase (Atp7a) and metallothionein) in the

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

69 x type) that is closely related to the human Menkes and Wilson disease proteins was cloned.

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

71 g domains in the amino terminus of the human Menkes protein.

72 sporting P-type ATPases, including the human Menkes/Wilson proteins and yeast Ccc2p.

73 pathway, and expression of a wild type human Menkes cDNA complemented this defect, as evidenced by th

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

75 curative, the nature of the basic defect in Menkes syndrome suggests that corrective efforts are lik

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

77 n-superoxide dismutase (SOD) was examined in Menkes lymphoblasts that express a genetic defect of cop

78 SOD activity was approximately 40% higher in Menkes than normal lymphoblasts.

79 may ameliorate noradrenergic hypofunction in Menkes disease.

80 may ameliorate noradrenergic hypofunction in Menkes disease.

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

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

83 The increased synthesis of SOD in Menkes lymphoblasts may play a protective role against c

84 inhibited 64Cu(II) incorporation into SOD in Menkes lymphoblasts under conditions in which no signifi

85 incorporation into newly synthesized SOD in Menkes lymphoblasts was approximately equal to the maxim

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

87 a protective role against copper toxicity in Menkes lymphoblasts.

88 the proper folding of the MNK transporter in Menkes patients may be responsive to parenteral copper t

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

90 ss the gene for Wilson disease, thus linking Menkes and Wilson proteins to maternal delivery of coppe

91 a significant impairment in copper-mediated Menkes ATPase trafficking was observed in the absence of

92 an hereditary diseases of copper metabolism, Menkes syndrome and Wilson's disease, encode P-type ATPa

93 ditary diseases of copper metabolism, namely Menkes syndrome and Wilson's disease, encode P-type ATPa

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

95 The expression of Menkes cDNAs with successive mutations of the conserved

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

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

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

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

100 y the most important finding in the study of Menkes syndrome.

101 tabolic studies revealed that trafficking of Menkes ATPase after NMDA receptor activation is associat

102 t in the rapid and reversible trafficking of Menkes ATPase to neuronal processes, independent of the

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

104 e liver, it is likely that the Wilson and/or Menkes proteins provide copper to ceruloplasmin made in

105 vels but also from loss of retinal Wilson or Menkes protein.

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

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

108 he present study the full-length recombinant Menkes protein was shown by immunofluorescence to locali

109 rvation, immunofluorescent analysis revealed Menkes ATPase in the late Golgi of hippocampal neurons i

110 Since Menkes lymphoblasts contain elevated copper levels, the

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

112 The Menkes and Wilson genes are homologous copper transporte

113 The Menkes and Wilson proteins were immunolocalized in human

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

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

116 The Menkes mRNA and protein were present in the RPE and neur

117 The Menkes protein (MNK; ATP7A) is a copper-transporting P-t

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

119 nctional and sequence similarity between the Menkes/Wilson copper export proteins and CCC2 in yeast,

120 Both the Menkes and Wilson proteins are present in the RPE.

121 The mouse homologues for the Menkes (MNK) and Wilson (WND) disease genes are the mott

122 protein can functionally substitute for the Menkes protein, supporting the concept that these protei

123 Mutations in WND and its homolog, the Menkes protein, lead to genetic disorders of copper meta

124 known intracellular location identified the Menkes ATPase in fractions similar to those containing t

125 for this protein and related domains in the Menkes and Wilson disease proteins.

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

127 t that the copper-induced trafficking of the Menkes and Wilson disease copper ATPases is associated w

128 nzymes, ATP7A and ATP7B, the products of the Menkes and Wilson disease genes, respectively, catalyze

129 e time and dose-dependent trafficking of the Menkes ATPase from the Golgi compartment in response to

130 Although the localization of the Menkes ATPase was identical in Atox1(+/+) and Atox1(-/-)

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

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

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

134 the PGAM 1 cDNA upstream from exon 2 of the Menkes gene is likely to be a processed pseudogene origi

135 dies against the amino-terminal third of the Menkes protein (ATP7A; MNK) by immunizing rabbits with a

136 icking between HAH1 and the first MBD of the Menkes protein (MNK1).

137 nce containing transmembrane domain 3 of the Menkes protein was found to be sufficient for localizati

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

139 pper chaperone HAH1 transports copper to the Menkes and Wilson proteins, which are copper-translocati

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

141 at is similar to the copper pumps related to Menkes and Wilson diseases and provides a useful prokary

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

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

144 ound Cu-ATPase that has been identified with Menkes syndrome.

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

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

147 iciency was first delineated in persons with Menkes syndrome, advances in our understanding of the cl

148 in association with the generation of the WT Menkes protein in all rescued mutants.

149 yces cerevisiae deficient in CCC2, the yeast Menkes/Wilson disease gene homologue.