ライフサイエンスコーパス: Wilson disease

1 iency (Menkes syndrome) and copper overload (Wilson disease).

2 otentially fatal hepatoneurological disorder Wilson disease.

3 is due to a gene different from the gene for Wilson disease.

4 s property has pharmacologic applications in Wilson disease.

5 ellular copper transport, Menkes disease and Wilson disease.

6 he genes responsible for Menkes syndrome and Wilson disease.

7 argeted for therapeutic approaches to combat Wilson disease.

8 count for gastrointestinal manifestations of Wilson disease.

9 principle will advance molecular imaging for Wilson disease.

10 s agouti (LEA) rats versus LEC rats modeling Wilson disease.

11 per transporter Atp7b, which is deficient in Wilson disease.

12 e function of its product and development of Wilson disease.

13 the genetic diagnosis of hemochromatosis and Wilson disease.

14 Mutations in ATP7B lead to Wilson disease.

15 alysis for Atp7b-/- mice, an animal model of Wilson disease.

16 cess it causes the severe metabolic disorder Wilson disease.

17 jor site of Cu accumulation in patients with Wilson disease.

18 ly related copper ATPase, ATP7B, affected in Wilson disease.

19 netic diseases, including Menkes disease and Wilson disease.

20 Mutations in the ATP7B gene lead to Wilson disease, a copper toxicity disorder characterized

21 tial yet toxic metal and its overload causes Wilson disease, a disorder due to mutations in copper tr

22 in labile copper levels in a murine model of Wilson disease, a genetic disorder that is characterized

23 osphorylation, and mutations associated with Wilson disease alter the steady-state distribution of AT

24 nected to severe diseases such as Menkes and Wilson diseases, Alzheimer's disease, prion disorders, a

25 romatosis and other iron overload disorders, Wilson disease and alpha one antitrypsin deficiency.

26 the current clinical and research status of Wilson disease and canine copper toxicosis.

27 Wilson disease and genetic hemochromatosis involve defec

28 factors that modify phenotypic expression of Wilson disease and genetic hemochromatosis.

29 opper and iron improved our understanding of Wilson disease and genetic hemochromatosis.

30 s Cinnamon rat identifies an animal model of Wilson disease and will permit experimental analysis of

31 ar to the copper pumps related to Menkes and Wilson diseases and provides a useful prokaryotic model

32 tations in ATP7B cause the potentially fatal Wilson disease, and changes in ATP7B expression are obse

33 Menkes disease and Wilson disease are human disorders of copper transport c

34 Menkes and Wilson diseases are associated with retinal degeneration

35 ATP7B, the Wilson disease-associated Cu(I)-transporter, and ZntA fr

36 were uniquely effective for cell therapy in Wilson disease because of the nature of preexisting hepa

37 ne complex would be effective for diagnosing Wilson disease by molecular imaging and tested this hypo

38 Wilson disease can have clinical and laboratory features

39 deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-type Cu-ATP

40 the degradation of ATP7B containing the same Wilson disease-causing C-terminal mutations via differen

41 he hepatocytes and rescues the most frequent Wilson-disease-causing ATP7B mutant to the appropriate f

42 copper-induced trafficking of the Menkes and Wilson disease copper ATPases is associated with the pho

43 dent interaction of isolated N-MBDs from the Wilson disease Cu-ATPase with the ATP binding cytoplasmi

44 Cu chelators used in the treatment of Wilson disease decreased tumour growth of human or murin

45 Variants in ATP7B associated with Wilson disease disrupt the protein's transport activity,

46 fied, is produced as a truncated form of the Wilson disease gene (Atp7b) product.

47 revisiae deficient in CCC2, the yeast Menkes/Wilson disease gene homologue.

48 The cloning of the Wilson disease gene opened up the possibility that a dir

49 he yeast homolog of MNK and WND (ATP7B), the Wilson disease gene product.

50 e that are homozygous mutants (null) for the Wilson disease gene.

51 7A and ATP7B, the products of the Menkes and Wilson disease genes, respectively, catalyze an ATP-depe

52 our understanding of the pathophysiology of Wilson disease, genetic hemochromatosis and alpha-1 anti

53 Three selected disorders-Wilson disease, genetic hemochromatosis and other heredi

54 e following section focuses on the disorders Wilson disease hemochromatosis and alpha-one antitrypsin

55 Four selected topics, Wilson disease, hemochromatosis and iron overload disord

56 rm of cirrhotic liver disease that resembles Wilson disease in humans and the 'toxic milk' phenotype

57 gradation constitutes the molecular basis of Wilson disease in patients harboring the H1069Q mutation

58 BACKGROUND & AIMS: Wilson disease is a disorder of copper (Cu) misbalance c

59 Wilson disease is a disorder of copper metabolism charac

60 Wilson disease is a severe disorder of copper metabolism

61 Wilson disease is a severe genetic disorder associated w

62 Wilson disease is an autosomal recessive disorder of hep

63 n of saccades to presented stimulus, whereas Wilson disease is associated with saccadic pursuits, inc

64 One of the main clinical challenges in Wilson disease is for clinicians to recognize the possib

65 overies for both iron overload disorders and Wilson disease is our increasing understanding that the

66 o normal intestinal copper homeostasis or to Wilson disease manifestations.

67 Patients with neurologic disorders such as Wilson disease may first present with decreased vision a

68 ncements in diagnosis of hemochromatosis and Wilson disease may lead to earlier diagnosis and treatme

69 unts for the disruptive effects of >30 known Wilson disease mutations.

70 quired for copper homeostasis and related to Wilson disease of humans.

71 gnosis and management of hemochromatosis and Wilson disease over the past 18 months.

72 n a copper-transporting P1B-type ATPase of a Wilson disease patient, the PCA1 allele found in laborat

73 These mice, like Wilson disease patients, have intracellular copper accum

74 Perturbation of the human copper-transporter Wilson disease protein (ATP7B) causes intracellular copp

75 Wilson disease protein (ATP7B) is a copper-transporting

76 x1 interacts with Menkes disease protein and Wilson disease protein (WD) and functions in copper effl

77 The Wilson disease protein (WND) is a transport ATPase invol

78 opper transport by the P(1)-ATPase ATP7B, or Wilson disease protein (WNDP),1 is essential for human m

79 ATP7A is a faster copper transporter than Wilson disease protein as evidenced by faster rates of c

80 The Wilson disease protein ATP7B exhibits copper-dependent t

81 Here we demonstrate that the Wilson disease protein directly interacts with the human

82 The Wilson disease protein is a copper transporting ATPase s

83 a coli K+-transporting Kdp-ATPase and to the Wilson disease protein N-domain indicate that the five c

84 Inactivation of ATP7B (Wilson disease protein) by gene knock-out induces a stri

85 an ATP7A (Menkes disease protein) and ATP7B (Wilson disease protein), as well as yeast Atx1, a cytoso

86 st common disease mutation in the homologous Wilson disease protein.

87 t is closely related to the human Menkes and Wilson disease proteins was cloned.

88 (MBDs) of the two P-type ATPases (Menkes and Wilson disease proteins), the destination for copper bou

89 rotein and related domains in the Menkes and Wilson disease proteins.

90 ntified, but the molecular events leading to Wilson disease remain poorly understood.

91 opper imbalance syndromes Menkes disease and Wilson disease, respectively.

92 rodegenerative disorders, Menkes disease and Wilson disease, respectively.

93 cy and copper toxicity disorders, Menkes and Wilson diseases, respectively.

94 rug hepatitis, fatty liver, hemochromatosis, Wilson disease, several biliary tract disorders, and pat

95 yzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domain

96 ogous to one of human copper ATPase ATP7B in Wilson disease) that inhibits ATPase activity.

97 For Wilson disease, there is new data regarding the structur

98 the data were obtained in an animal model of Wilson' disease, these biochemical parameters likely ref

99 BeWo cells may also express the gene for Wilson disease, thus linking Menkes and Wilson proteins

100 Wilson disease (WD) and Menkes disease (MNK) are inherit

101 The pathogenic agent of both Wilson disease (WD) and non-Indian childhood cirrhosis (

102 Wilson disease (WD) is a hepatoneurological disorder cau

103 Wilson disease (WD) is a monogenic autosomal-recessive d

104 Wilson disease (WD) is a monogenic disorder caused by mu

105 Wilson disease (WD) is a severe hepato-neurologic disord

106 Wilson disease (WD) is an autosomal recessive disorder c

107 Wilson disease (WD) is an autosomal recessive disorder t

108 The severe liver pathology of untreated Wilson disease (WD) is associated with massive copper ov

109 Acute liver failure (ALF) due to Wilson disease (WD) is invariably fatal without emergenc

110 tox1 delivers Cu to metal-binding domains of Wilson disease (WD) protein for insertion into cuproenzy

111 Wilson Disease (WD) usually presents in the first decade

112 Hemochromatosis and Wilson disease (WD), characterized by the excess hepatic

113 In Wilson disease (WD), functional loss of ATPase copper-tr

114 accumulation and severe pathology, known as Wilson disease (WD).

115 accumulation and severe pathology, known as Wilson disease (WD).

116 plice variant of the ATP7B gene disrupted in Wilson disease (WD).

117 cacy of pro-oxidant hepatic perturbations in Wilson disease, we studied Long-Evans Cinnamon (LEC) rat

118 r clinicians to recognize the possibility of Wilson disease when young patients present with liver di

119 nce of genotype and phenotype correlation in Wilson disease, which can be diagnosed by genetic sequen

120 ideline has been developed for children with Wilson disease with mild liver disease that increases th

121 , using a 170-kb clone containing the entire Wilson disease (WND) locus as a model.