ライフサイエンスコーパス: Gaucher disease

1 vivo role of Saposin C in the modulation of Gaucher disease.

2 d small molecule treatment for patients with Gaucher disease.

3 ty due to biallelic GBA1 mutations underlies Gaucher disease.

4 echanism through which N370S and L444P cause Gaucher disease.

5 nvestigating the mechanisms of neuronopathic Gaucher disease.

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

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

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

9 eveloped as enzyme replacement therapies for Gaucher disease.

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

11 hogenic processes, including virus entry and Gaucher disease.

12 transfer therapy as a curative treatment for Gaucher disease.

13 r potential alternative future therapies for Gaucher disease.

14 enzyme replacement therapy in patients with Gaucher disease.

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

16 sorted skin fibroblasts from a patient with Gaucher disease.

17 le independent predictor of fracture risk in Gaucher disease.

18 strocytes and fibroblasts from patients with Gaucher disease.

19 may be effective for a number of variants in Gaucher disease.

20 ocerebrosidase (GCase), which is involved in Gaucher disease.

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

22 ve immune cell recruitment and activation in Gaucher disease.

23 matory response in experimental and clinical Gaucher disease.

24 regulation of GBA2 activity in patients with Gaucher disease.

25 reatment option for the neuropathic forms of Gaucher disease.

26 Parkinson disease and neuronopathic forms of Gaucher disease.

27 onstrating their similarity to patients with Gaucher disease.

28 ing its potential for treating neuronopathic Gaucher disease.

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

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

31 ty in fibroblasts derived from patients with Gaucher disease.

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

33 candidates as pharmacological chaperones for Gaucher disease.

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

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

36 pathogenic mutations (those associated with Gaucher disease), a number of 'non-pathogenic' variants

37 Recessive variants in GBA1 cause Gaucher disease, a prevalent form of lysosome storage di

38 Gaucher disease, a prevalent lysosomal storage disease (

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

40 f its lipid substrates in lysosomes, causing Gaucher disease, an autosomal recessive disorder that di

41 ed to deliver GBA1, mutations of which cause Gaucher disease and are linked to Parkinson's disease, B

42 Mutations in GBA1 cause Gaucher disease and are the most important genetic risk

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

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

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

46 Patients with Gaucher disease and heterozygous glucocerebrosidase muta

47 50% (P < 0.05) in fibroblasts from controls, Gaucher disease and heterozygous mutation carriers with

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

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

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

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

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

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

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

55 ociation between the rare monogenic disorder Gaucher disease and the common complex disorder Parkinso

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

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

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

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

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

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

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

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

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

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

66 Mutations in GBA1, the gene mutated in Gaucher disease, are a common genetic risk factor for Pa

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

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

69 ariants, including those not associated with Gaucher disease, are common in PD and result in a more a

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

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

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

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

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

75 which a vast majority of 94 sites harboring Gaucher disease-associated missense variants are located

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

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

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

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

80 tion therapy ameliorate systemic features of Gaucher disease, but no therapies are approved for neuro

81 eutic strategies considered or developed for Gaucher disease can now inform drug development for PD.

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

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

84 in the glucocerebrosidase (GBA1) gene cause Gaucher disease, characterized by lysosomal accumulation

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

86 Most patients with Gaucher disease demonstrate increased central bone marro

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

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

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

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

91 In contrast, Gaucher disease fibroblasts, which traffic sphingolipids

92 rosidase and as pharmacological chaperone in Gaucher disease fibroblasts.

93 onism in a rare subgroup of individuals with Gaucher disease first directed attention to the role of

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

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

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

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

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

99 , encoding glucocerebrosidase (GCase), cause Gaucher disease (GD) and are also genetic risks in devel

100 (GCase) cause the lysosomal storage disorder Gaucher disease (GD) and are strong risk factors for syn

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

102 (GCase) causes the lysosomal storage disease Gaucher disease (GD) and has emerged as the greatest gen

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

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

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

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

107 A salutary effect of treatments for Gaucher disease (GD) has been a reduction in the inciden

108 Background Patients with Gaucher disease (GD) have a high risk of fragility fract

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

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

111 Gaucher Disease (GD) is a rare genetic disorder characte

112 Gaucher disease (GD) is an autosomal recessive disorder

113 Gaucher disease (GD) is an autosomal recessive lysosomal

114 Gaucher Disease (GD) is an inherited metabolic disorder

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

116 Gaucher disease (GD) is caused by biallelic GBA1/Gba1 mu

117 Gaucher disease (GD) is caused by GBA1 mutations leading

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

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

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

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

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

123 Biallelic mutations in Gba cause Gaucher disease (GD), a lysosomal disorder characterized

124 tionally, bi-allelic mutations in GBA1 cause Gaucher disease (GD), a lysosomal storage disorder.

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

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

127 Gaucher disease (GD), an inherited macrophage glycosphin

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

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

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

131 codes beta-glucocerebrosidase (GCase), cause Gaucher disease (GD), whereas mono-allelic mutations do

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

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

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

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

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

137 plicated in both a rare, monogenic disorder (Gaucher disease, GD) and a common, multifactorial condit

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

139 Gaucher disease has a broad clinical phenotypic spectrum

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

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

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

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

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

145 In the past, animal models of Gaucher disease have been generated by treatment with th

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

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

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

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

150 Current therapies for Gaucher disease include life-long intravenous administra

151 us mutations in GBA1, the gene implicated in Gaucher disease, increase the risk and severity of Parki

152 o aberrant sclerostin regulation using human Gaucher disease iPSCs.

153 Gaucher disease is a lysosomal storage disease resulting

154 Gaucher disease is a lysosomal storage disorder caused b

155 Gaucher disease is a lysosomal storage disorder caused b

156 Gaucher disease is a lysosomal storage disorder caused b

157 Gaucher disease is a lysosomal storage disorder caused b

158 Gaucher disease is a lysosomal storage disorder resultin

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

160 Gaucher disease is an autosomal recessive inborn error o

161 Gaucher disease is an autosomal recessive lysosomal stor

162 Gaucher disease is an autosomal recessively inherited di

163 Gaucher disease is caused by defective acid beta-glucosi

164 Gaucher disease is caused by inherited deficiency in glu

165 Gaucher disease is caused by mutations in GBA1 encoding

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

167 Gaucher disease is caused by mutations in the enzyme aci

168 Gaucher disease is caused by mutations in the GBA gene,

169 Gaucher disease is caused by mutations in the gene encod

170 Gaucher disease is caused by mutations in the glucocereb

171 Gaucher disease is caused by mutations in the glucocereb

172 Gaucher disease is caused by mutations in the glucosidas

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

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

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

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

177 Gaucher disease is one of the most common types of LSDs

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

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

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

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

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

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

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

185 Here, using a zebrafish Gaucher disease model, we find that the mutation GBA1 N3

186 These variant Gaucher disease mouse models presented a mutation specif

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

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

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

190 Neuronopathic Gaucher disease (nGD) is a rare neurodegenerative disord

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

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

193 the treatment of the neuronopathic forms of Gaucher disease (nGD).

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

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

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

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

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

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

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

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

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

203 Gaucher disease, resulting from deficient lysosomal gluc

204 Gaucher disease results from an autosomal recessive defi

205 Gaucher disease results from the deficiency of the lysos

206 Gaucher disease results from the inherited deficiency of

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

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

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

210 Gaucher disease, the most common lysosomal storage disea

211 Gaucher disease, the most prevalent lysosomal storage di

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

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

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

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

216 We enrolled 31 patients with Gaucher disease type 1 (GD), 29 GBA1 heterozygous carrie

217 Gaucher disease type 1 (GD1) is caused by mutations in t

218 Gaucher disease type 1 is characterized by hepatosplenom

219 Gaucher disease type 1 results from the accumulation of

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

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

222 t FLT201 could offer a durable treatment for Gaucher disease type 1, addressing unmet needs related t

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

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

225 Gaucher disease type 3 is a chronic neuronopathic disord

226 In adults with Gaucher disease type 3 receiving imiglucerase, addition

227 during 1 year of treatment in 11 adults with Gaucher disease type 3.

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

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

230 we correctly predict responsiveness of three Gaucher disease variants, and we provide predictions for

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

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

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

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

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

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

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

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

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

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

241 ach to treat severe types of LSDs, including Gaucher disease with neurological complications.

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

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

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

245 11, 62.1 +/- 7.1 years); (iii) patients with Gaucher disease without parkinsonism, but with a family