ライフサイエンスコーパス: Gaucher disease

1 ty due to biallelic GBA1 mutations underlies Gaucher disease.

2 matory response in experimental and clinical Gaucher disease.

3 nvestigating the mechanisms of neuronopathic Gaucher disease.

4 regulation of GBA2 activity in patients with Gaucher disease.

5 inhibitors in the treatment of some forms of Gaucher disease.

6 S beta-Glu, the most common mutation causing Gaucher disease.

7 wish extraction) and 24 patients with type 3 Gaucher disease.

8 eveloped as enzyme replacement therapies for Gaucher disease.

9 ficiency of the enzyme or activator leads to Gaucher disease.

10 transfer therapy as a curative treatment for Gaucher disease.

11 r potential alternative future therapies for Gaucher disease.

12 enzyme replacement therapy in patients with Gaucher disease.

13 s causes of the glycolipid storage disorder, Gaucher disease.

14 sorted skin fibroblasts from a patient with Gaucher disease.

15 Parkinson disease and neuronopathic forms of Gaucher disease.

16 onstrating their similarity to patients with Gaucher disease.

17 ing its potential for treating neuronopathic Gaucher disease.

18 rom the patients with parkinsonism or Type 2 Gaucher disease.

19 conduritol beta-epoxide, a cellular model of Gaucher disease.

20 ty in fibroblasts derived from patients with Gaucher disease.

21 y for the L444P GBA mutation associated with Gaucher disease.

22 A1 activity cause the lipid-storage disorder Gaucher disease.

23 candidates as pharmacological chaperones for Gaucher disease.

24 ve immune cell recruitment and activation in Gaucher disease.

25 avel the role of GBA2 during pathogenesis of Gaucher disease.

26 d small molecule treatment for patients with Gaucher disease.

27 (ARMS)-to genotype 128 patients with type 1 Gaucher disease (64 of Ashkenazi Jewish ancestry and 64

28 Gaucher disease, a prevalent lysosomal storage disease (

29 reticulo-endothelial system in patients with Gaucher disease, a rare lysosomal storage disorder cause

30 s can complicate genotyping in patients with Gaucher disease and contribute to the difficulty in inte

31 gaining insight into the pathophysiology of Gaucher disease and developing improved therapies.

32 tivity in fibroblasts from healthy controls, Gaucher disease and heterozygous glucocerebrosidase muta

33 Patients with Gaucher disease and heterozygous glucocerebrosidase muta

34 50% (P < 0.05) in fibroblasts from controls, Gaucher disease and heterozygous mutation carriers with

35 Specifically, Gaucher disease and Hurler-Scheie syndrome have been sel

36 y of some type 3 (neuronopathic) variants of Gaucher disease and is a unique model suitable for testi

37 nding of genotype-phenotype relationships in Gaucher disease and may provide insights into the mechan

38 ght into a possible therapeutic strategy for Gaucher disease and other genetic disorders by modifying

39 vide insight into a therapeutic strategy for Gaucher disease and other human disorders that are assoc

40 nzyme beta-glucocerebrosidase (GC) result in Gaucher disease and represent a major risk factor for de

41 nes from skin biopsies of five patients with Gaucher disease and six heterozygous glucocerebrosidase

42 f the complex molecular mechanism underlying Gaucher disease and the regulation of beta-glucosidase a

43 nd clinical evidence suggests a link between Gaucher disease and the synucleinopathies Parkinson dise

44 erve as a treatment option for patients with Gaucher disease and, possibly, other lysosomal storage d

45 re expressed that are deficient in Fabry and Gaucher diseases and in Hurler and Hunter syndromes.

46 cerebrosidase (GC) cDNA for the treatment of Gaucher disease, and a small murine cell surface antigen

47 ne patient with Type 2 (acute neuronopathic) Gaucher disease, and differentiated them into macrophage

48 nt of early lethal genetic diseases, such as Gaucher disease, and for disabling neuropathies, such as

49 L444P/recombinant allele resulted in type 2 Gaucher disease, and homozygosity for a recombinant alle

50 potential as leads for chaperone therapy for Gaucher disease, and this paradigm promises to accelerat

51 udy suggests that, in general, patients with Gaucher disease are not at highly increased risk of canc

52 rebrosidase (GCase), the enzyme deficient in Gaucher disease, are a common genetic risk factor for th

53 e glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkin

54 glucocerebrosidase, the enzyme deficient in Gaucher disease, are common risk factors for Parkinson d

55 Glucocerebrosidase 1 mutations, which cause Gaucher disease, are the most common genetic risk factor

56 gene responsible for the lysosomal disorder Gaucher disease, are the most common.

57 own to be true of skeletal manifestations of Gaucher disease as well.

58 onstructed based on linkage, and a consensus Gaucher disease-associated founder mutation-flanking hap

59 study demonstrates that heterozygosity for a Gaucher disease-associated mutation in Gba interferes wi

60 gest that GBA2 might affect the phenotype of Gaucher disease, because GBA2 activity is reduced in Gba

61 osidase cause the lysosomal storage disorder Gaucher disease but also increase the risk for Parkinson

62 s are being made to develop gene therapy for Gaucher disease, but formidable obstacles must be overco

63 e disorders, including Tay-Sachs disease and Gaucher disease, can be accounted for if the disease-ass

64 e lysosomal acid beta-glucosidase (GCase) in Gaucher disease causes accumulation of glucosylceramide

65 ized by protein-folding mutations, including Gaucher disease, cystic fibrosis and ZZ alpha1-antitryps

66 Most patients with Gaucher disease demonstrate increased central bone marro

67 en species in fibroblasts from patients with Gaucher disease (dihydroethidium oxidation rate increase

68 ssociated with Parkinson's risk but not with Gaucher disease (E326K, P = 0.009; T369M, P < 0.001).

69 We show that lipids accumulating in Gaucher disease, especially glucosylsphingosine, play a

70 r such treatable lysosomal storage diseases: Gaucher disease, Fabry disease, Pompe disease and the mu

71 In contrast, Gaucher disease fibroblasts, which traffic sphingolipids

72 rosidase and as pharmacological chaperone in Gaucher disease fibroblasts.

73 Major clinical advances in Gaucher disease focus on detection, prediction and treat

74 of established and emerging therapeutics for Gaucher disease for the treatment of the synucleinopathi

75 Except for Gaucher disease, for which an enzyme with exposed mannos

76 e, we provide evidence that a mouse model of Gaucher disease (Gba1(D409V/D409V)) exhibits characteris

77 Symptomatic patients with Gaucher disease (GD) (acid beta-glucosidase [Gcase] defi

78 for Parkinson disease (PD) in patients with Gaucher disease (GD) and glucocerebrosidase (GBA) hetero

79 Patients with type 1 Gaucher disease (GD) and heterozygous GBA mutation carri

80 h is more abundant in patients and mice with Gaucher disease (GD) and is capable of regulating B-cell

81 Patients with Gaucher disease (GD) are alleged to be at an increased r

82 ebrosidase 1 (GBA) mutations responsible for Gaucher disease (GD) are the most common genetic risk fa

83 d) gene causes the classic manifestations of Gaucher disease (GD) involving the viscera, the skeleton

84 Gaucher disease (GD) is a lysosomal storage disorder cau

85 Gaucher disease (GD) is an autosomal recessive disorder

86 Gaucher disease (GD) is caused by a spectrum of genetic

87 Gaucher disease (GD) is caused by mutations in the GBA1

88 Gaucher disease (GD) is caused by mutations in the GBA1

89 ponse to enzyme replacement therapy (ERT) in Gaucher disease (GD) is problematic.

90 Gaucher disease (GD) results from mutations in the acid

91 ), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker

92 Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal stor

93 osidase (GBA1) mutations are associated with Gaucher disease (GD), an autosomal recessive disorder ca

94 Gaucher disease (GD), an inherited macrophage glycosphin

95 lly linked to the lysosomal storage disorder Gaucher disease (GD), but the mechanistic connection is

96 ) variant associated with the development of Gaucher disease (GD), the most common LSD.

97 Gaucher disease (GD), the most common lysosomal storage

98 deficient in the lysosomal storage disorder, Gaucher disease (GD).

99 , including skeletal abnormalities in type 1 Gaucher disease (GD).

100 due to mutations in the GBA gene results in Gaucher disease (GD).

101 e), the beta-glucosidase enzyme deficient in Gaucher disease (GD).

102 tion is commonly observed in both inherited (Gaucher disease [GD]) and acquired disorders of lipid me

103 In nonneuronopathic type 1 Gaucher disease (GD1), mutations in the glucocerebrosida

104 Gaucher disease has a broad clinical phenotypic spectrum

105 An Ashkenazi Jewish woman with Gaucher disease has a huge spleen and severe thrombocyto

106 A major challenge in the field of Gaucher disease has been the development of new therapeu

107 d beta-glucosidase during enzyme therapy for Gaucher disease has significant implications for monitor

108 hage-targeted enzyme replacement therapy for Gaucher disease, has been successfully used for several

109 Three clinical types of Gaucher disease have been defined according to the prese

110 matologic disorders such as the hemophilias, Gaucher disease, hemochromatosis, and the porphyrias.

111 Patients diagnosed with Gaucher disease, however, lack this enzyme, leading to t

112 view explores the haematological features of Gaucher disease in the context of new insights into the

113 educed marrow GBA1 expression reminiscent of Gaucher disease, in which PKC involvement has been sugge

114 Gaucher disease is a lysosomal storage disease resulting

115 Gaucher disease is a lysosomal storage disorder caused b

116 Gaucher disease is a lysosomal storage disorder caused b

117 Gaucher disease is a lysosomal storage disorder caused b

118 PURPOSE OF REVIEW: Gaucher disease is a rare inherited disorder of sphingol

119 Gaucher disease is an autosomal recessive inborn error o

120 Gaucher disease is an autosomal recessive lysosomal stor

121 Gaucher disease is an autosomal recessively inherited di

122 Gaucher disease is caused by defective acid beta-glucosi

123 Gaucher disease is caused by mutations in GBA1, which en

124 Gaucher disease is caused by mutations in the enzyme aci

125 Gaucher disease is caused by mutations in the gene encod

126 Gaucher disease is caused by mutations in the glucocereb

127 Gaucher disease is caused by mutations in the glucocereb

128 Gaucher disease is caused by mutations in the glucosidas

129 Gaucher disease is caused by mutations of the GBA gene t

130 Gaucher disease is caused by mutations of the GBA1 gene,

131 Enzyme replacement therapy for Gaucher disease is costly and relatively ineffective for

132 genes to the more atypical presentations of Gaucher disease is now under investigation.

133 -glucocerebrosidase, the enzyme defective in Gaucher disease, is targeted to the lysosome independent

134 lysosomal enzyme defective in patients with Gaucher disease-is delivered to the lysosome through its

135 We have developed adult mice carrying the Gaucher disease L444P point mutation in the glucocerebro

136 patients with saposin C deficiency develop a Gaucher disease-like central nervous system (CNS) phenot

137 ly reduced in fibroblasts from patients with Gaucher disease (median 5% of controls, P = 0.0001) and

138 re significantly reduced in fibroblasts from Gaucher disease (median glucosylceramidase levels 42% of

139 In young Gaucher disease mice (V394Lgba+/+//prosaposin[ps]-null//

140 Unaffected heterozygous carriers of Gaucher disease mutations have an increased risk for Par

141 localized and general structural effects of Gaucher disease mutations that were not obvious from the

142 ups: (i) patients with Parkinson disease and Gaucher disease (n = 7, average age = 56.6 +/- 9.2 years

143 Neuronopathic Gaucher disease (nGD) manifests as severe neurological s

144 vel pathological mechanisms in neuronopathic Gaucher disease (nGD), a mouse model (4L;C*), an analogu

145 in the pathogenesis of chronic neuronopathic Gaucher disease (nGD).

146 However, the role of GBA2 in Gaucher disease pathology and its relationship to GBA1 i

147 Cell based assays conducted on Gaucher disease patient derived fibroblasts demonstrated

148 with ubiquitin are present in the brains of Gaucher disease patients and mouse models.

149 The variant GCases from Gaucher disease patients and selected variant GCases fro

150 five severely affected type 1 and two type 2 Gaucher disease patients of non-Jewish descent identifie

151 sidase whose defective activity leads to the Gaucher disease phenotypes.

152 To develop viable models of Gaucher disease, point mutations (pmuts), encoding N370S

153 wo D409Vgba knockin alleles without signs of Gaucher disease (residual GCase activity, >/=20%), we re

154 Gaucher disease, resulting from deficient lysosomal gluc

155 Gaucher disease results from an autosomal recessive defi

156 Gaucher disease results from the deficiency of the lysos

157 Gaucher disease results from the inherited deficiency of

158 Studies of the natural history of Gaucher disease show that progression is usually very sl

159 However, the group with both Parkinson and Gaucher diseases showed decreased resting regional cereb

160 Gaucher disease, the most common lysosomal storage disea

161 Mutations in the lysosomal GBA1 underlie Gaucher disease, the most common lysosomal storage disea

162 Gaucher disease, the most prevalent lysosomal storage di

163 extraordinarily effective for patients with Gaucher disease, the most prevalent metabolic storage di

164 tment of Parkinson disease and neuronopathic Gaucher disease to increase glucocerebrosidase activity

165 uld be applicable to investigations of other Gaucher disease treatments in both human and animal mode

166 our patients with Type 1 (non-neuronopathic) Gaucher disease, two with and two without parkinsonism,

167 Gaucher disease type 1 is characterized by hepatosplenom

168 Gaucher disease type 1 results from the accumulation of

169 idual measures was maintained in adults with Gaucher disease type 1 treated with eliglustat who remai

170 Gaucher disease type 1, a non-neuronopathic lysosomal st

171 may be critical in the case of treatment for Gaucher disease type 1, because GC transduced cells have

172 Among previously untreated adults with Gaucher disease type 1, treatment with eliglustat compar

173 genetic heterogeneity in the lesions causing Gaucher disease types 1 and 2, and further delineate gen

174 ity, but not that of L444P, a less prevalent Gaucher disease variant.

175 ine loss in patients with both Parkinson and Gaucher disease was similar to sporadic Parkinson diseas

176 ustat), an approved drug for treating type 1 Gaucher disease, was found to normalize CFTR-dependent c

177 ons that correspond to the clinical types of Gaucher disease, we have devised a highly efficient one-

178 nt study, DNA samples from 240 patients with Gaucher disease were examined using several complementar

179 as consistent with previous trials in type I Gaucher disease, where half this dose was used.

180 heterozygosity for N370S resulted in type 1 Gaucher disease, whereas homozygosity for L444P was asso

181 glycolipid synthesis, resulted in a drug for Gaucher disease, which was approved worldwide in 2002.

182 stat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With

183 al risk factors for severe manifestations of Gaucher disease will allow rational assessment of patien

184 d from iPSC lines derived from patients with Gaucher disease with and without parkinsonism.

185 neurons from patients with Type 2 and Type 1 Gaucher disease with parkinsonism had reduced dopamine s

186 om the clinical recognition of patients with Gaucher disease with parkinsonism.

187 Furthermore, two subjects with Gaucher disease without parkinsonian manifestations show

188 11, 62.1 +/- 7.1 years); (iii) patients with Gaucher disease without parkinsonism, but with a family