ライフサイエンスコーパス: glucocerebrosidase

1 y decreased activity of the lysosomal enzyme glucocerebrosidase.

2 d by the recessively inherited deficiency of glucocerebrosidase.

3 LIMP-2 is a specific binding partner of beta-glucocerebrosidase.

4 te-independent trafficking receptor for beta-glucocerebrosidase.

5 ive essential, lipid-processing enzyme, beta-glucocerebrosidase.

6 hydrolysis of glucosylceramide by the enzyme glucocerebrosidase.

7 ain and brainstem with therapeutic levels of glucocerebrosidase.

8 unohistochemistry demonstrated intraneuronal glucocerebrosidase.

9 lar membranes and decreased activity of beta-glucocerebrosidase.

10 on of a pH-dependent hydrolytic enzyme, beta-glucocerebrosidase.

11 pase, sphingomyelin phosphodiesterase 1, and glucocerebrosidase.

12 recessive deficiency of the lysosomal enzyme glucocerebrosidase.

13 affecting macrophages, is in the activity of glucocerebrosidase.

14 rosidase, which increases the levels of beta-glucocerebrosidase.

15 result in deficiency of the lysosomal enzyme glucocerebrosidase.

16 Glucocerebrosidase 1 (GBA) mutations responsible for Gau

17 Autosomal recessively inherited glucocerebrosidase 1 (GBA1) mutations cause the lysosoma

18 Mutations in glucocerebrosidase 1 (GBA1) represent the most prevalent

19 aucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of t

20 he heterozygous L444P mutation in the murine glucocerebrosidase 1 gene, and (3) transgenic mice overe

21 Both homozygous and heterozygous glucocerebrosidase 1 mutations confer an increased risk

22 Glucocerebrosidase 1 mutations, which cause Gaucher dise

23 e that 10 to 25% of Parkinson patients carry glucocerebrosidase 1 mutations.

24 The lysosomal enzyme glucocerebrosidase-1 (GCase) catalyzes the cleavage of a

25 Moreover, enzyme activities (glucocerebrosidase-1, glucocerebrosidase-2, hexosaminida

26 ate that ASAH1 (acid ceramidase 1) and GBA2 (glucocerebrosidase 2) enzymes that mediate glucosylsphin

27 er, enzyme activities (glucocerebrosidase-1, glucocerebrosidase-2, hexosaminidase, galactosylceramida

28 Finally, the activity of epidermal beta-glucocerebrosidase, a key lipid-processing enzyme, incre

29 -binding cassette, sub-family A, member 12), glucocerebrosidase, acid sphingomyelinase, and transglut

30 y body-like inclusions, and the reduction of glucocerebrosidase activity accelerated alpha-synuclein

31 are a result of the combination of a loss of glucocerebrosidase activity and a toxic gain-of-function

32 nd neuronopathic Gaucher disease to increase glucocerebrosidase activity and decrease alpha-synuclein

33 terfering RNAs significantly attenuated acid glucocerebrosidase activity and decreased PMA-induced fo

34 stigated the effect of ambroxol treatment on glucocerebrosidase activity and on alpha-synuclein and p

35 idase chaperone, which successfully restored glucocerebrosidase activity and protein levels and reduc

36 beta-glucocerebrosidase activity and protein levels were seve

37 fully chaperoned the mutant enzyme, restored glucocerebrosidase activity and protein levels, and redu

38 Neurons show a reduction in glucocerebrosidase activity and protein levels, increase

39 These cells exhibited decreased glucocerebrosidase activity and stored the glycolipid su

40 ysosomal disorder characterized by deficient glucocerebrosidase activity and the accumulation of gluc

41 GBA1 variants and decreased glucocerebrosidase activity are implicated in Parkinson'

42 ilable methodologies for measuring acid beta-glucocerebrosidase activity are primarily conducted in c

43 Concurrently, there was diminished beta-glucocerebrosidase activity at the stratum granulosum-st

44 ese structural series increased N370S mutant glucocerebrosidase activity by 40-90% in patient cell li

45 These data indicate that increasing glucocerebrosidase activity can influence alpha-synuclei

46 broxol treatment resulted in increased brain glucocerebrosidase activity in (1) wild-type mice, (2) t

47 The association of lower glucocerebrosidase activity in both GBA mutation carrier

48 ulated by experimental in vivo inhibition of glucocerebrosidase activity in mice.

49 Here, we investigated whether modulation of glucocerebrosidase activity in murine models of synuclei

50 ckout on alpha-synuclein accumulation and on glucocerebrosidase activity in neuronal cell models and

51 Partial inhibition of glucocerebrosidase activity in PrP-A53T-SNCA mice using

52 tations in GBA1 also exhibit lower levels of glucocerebrosidase activity in the central nervous syste

53 ave now evaluated the efficacy of augmenting glucocerebrosidase activity in the CNS of symptomatic Gb

54 Hence, increasing glucocerebrosidase activity in the CNS represents a pote

55 In VavCre 129 GD mice, glucocerebrosidase activity in the spleen was severely r

56 Conversely, augmenting glucocerebrosidase activity in the Thy1-SNCA mouse model

57 le chaperone that has been shown to increase glucocerebrosidase activity in vitro.

58 Twenty minutes postdose, beta-glucocerebrosidase activity increased over endogenous le

59 st in vivo evidence that augmentation of CNS glucocerebrosidase activity is a potential therapeutic s

60 Acid beta-glucocerebrosidase activity is measured in molecules of

61 tion of the compounds can increase lysosomal glucocerebrosidase activity levels by therapeutically re

62 synuclein pathology, and that rescuing brain glucocerebrosidase activity might represent a therapeuti

63 se studies is the notion that PGRN regulates glucocerebrosidase activity via direct chaperone activit

64 A significant reduction of glucocerebrosidase activity was associated with increase

65 After the treatment, glucocerebrosidase activity was measured in the mouse br

66 Glucocerebrosidase activity was reduced in heterozygotes

67 ier recovery, attributable to decreased beta-glucocerebrosidase activity, assessed zymographically, r

68 ased lysosomal catalytic activity, decreased glucocerebrosidase activity, impaired autophagosome clea

69 PIKfyve modulator further improves cellular glucocerebrosidase activity, likely because ISR signalin

70 By contrast, beta-glucocerebrosidase activity, which is responsible for th

71 omal storage disorder caused by insufficient glucocerebrosidase activity.

72 membranes attributable to an increased beta-glucocerebrosidase activity.

73 Caveolins partially colocalize with glucocerebrosidase, an enzyme known to be critical for r

74 ector system to deliver the lysosomal enzyme glucocerebrosidase and a secreted form of GFP to the neu

75 dependent, ceramide-generating enzymes, beta-glucocerebrosidase and acidic sphingomyelinase, leading

76 tanding of the cellular relationship between glucocerebrosidase and alpha-synuclein, the potential im

77 yed as inhibitor of the human lysosomal beta-glucocerebrosidase and as pharmacological chaperone in G

78 uous, highly homologous pseudogenes for both glucocerebrosidase and metaxin at the locus increases th

79 nverse relationship exists between levels of glucocerebrosidase and oligomeric alpha-synuclein.

80 ng intravenous administration of recombinant glucocerebrosidase and orally-available glucosylceramide

81 red clarification of the link between mutant glucocerebrosidase and Parkinson's disease pathology.

82 Activities of beta-glucocerebrosidase and steroid sulfatase, enzymes previo

83 activity of the lipid synthetic enzymes beta-glucocerebrosidase and steroid sulfatase, markers of bar

84 s critical to stratum corneum function, beta-glucocerebrosidase and steroid sulfatase.

85 Metaxin, a novel gene located between the glucocerebrosidase and thrombospondin 3 genes in the mou

86 usly described, in lysosomal acid lipase and glucocerebrosidase, and localizes to structures consiste

87 tions in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly r

88 All previously described chaperones of glucocerebrosidase are enzyme inhibitors, which complica

89 tations in glycosphingolipid (GSL)-degrading glucocerebrosidase are risk factors for PD, indicating t

90 Mutations in GBA1, the gene encoding glucocerebrosidase, are associated with an enhanced risk

91 Variants in GBA, encoding the enzyme glucocerebrosidase, are associated with Lewy body diseas

92 using immunohistochemistry, western blot and glucocerebrosidase assays.

93 Mutations in GBA1, encoding glucocerebrosidase beta 1 (GCase), are the most common g

94 pendent lysosomal targeting, binding to beta-glucocerebrosidase (beta-GCase) and directing it to the

95 ties were attributable to a decrease in beta-glucocerebrosidase (beta-GlcCer'ase) and acidic sphingom

96 ion of the key lipid processing enzyme, beta-glucocerebrosidase (beta-GlcCer'ase), develops similar t

97 e lipids alters LIMP-2 from functioning as a glucocerebrosidase-binding monomer toward a dimeric stat

98 sly, we have shown that early treatment with glucocerebrosidase can modulate alpha-synuclein aggregat

99 Mutations in the GBA gene that encodes glucocerebrosidase cause the lysosomal storage disorder

100 ement therapy (ERT) with macrophage-targeted glucocerebrosidase (Ceredase) infusions in 5 patients (a

101 rons were treated with a novel noninhibitory glucocerebrosidase chaperone, which successfully restore

102 euticals of restricted availability, such as glucocerebrosidase, could become much cheaper and more p

103 echanism to explain this connection: loss of glucocerebrosidase creates a positive feedback loop of r

104 lucocerebrosidase gene (GBA1) gene result in glucocerebrosidase deficiency and the accumulation of it

105 au and colleagues demonstrate that lysosomal glucocerebrosidase deficiency in GD1 bone marrow MSCs is

106 D) is a lysosomal storage disorder caused by glucocerebrosidase deficiency.

107 Moreover, we find that glucocerebrosidase depletion, which has previously been

108 Glucocerebrosidase dysfunction has been also observed in

109 from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45).

110 from the deficiency of the lysosomal enzyme glucocerebrosidase (EC 3.2.1.45).

111 g from an inherited deficiency of the enzyme glucocerebrosidase, encoded by GBA1, which hydrolyses th

112 The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase ge

113 on also led to lysosomal transport of a beta-glucocerebrosidase endoplasmic reticulum retention mutan

114 ide venous blood sampling for measurement of glucocerebrosidase enzymatic activity (GCase).

115 ths, Gba1 E326K knock-in mice showed reduced glucocerebrosidase enzymatic activity and glucosylcerami

116 Taken together, these data suggest that glucocerebrosidase enzymatic activity could be a modifia

117 Glucocerebrosidase enzymatic activity in dried blood spo

118 We measured glucocerebrosidase enzymatic activity in dried blood spo

119 High glucocerebrosidase enzymatic activity in LRRK2 G2019S ca

120 We conclude that lower glucocerebrosidase enzymatic activity is strongly associ

121 disease were considered, they had lower mean glucocerebrosidase enzymatic activity than controls (11.

122 patients with idiopathic Parkinson's, higher glucocerebrosidase enzymatic activity was associated wit

123 mulation and ultimately resulting in reduced glucocerebrosidase enzymatic activity, lysosomal dysfunc

124 disease in GBA carriers is due to a loss of glucocerebrosidase enzymatic activity.

125 on the interaction between the reduction of glucocerebrosidase (enzymatic) activity in GBA1(+/-) car

126 A1 mutations and PD are unknown, loss of the glucocerebrosidase enzyme (GCase) activity, inhibition o

127 The targeted cells generate glucocerebrosidase-expressing macrophages and maintain l

128 ient CRISPR/Cas9-based approach that targets glucocerebrosidase expression cassettes with a monocyte/

129 atient's own hematopoietic system to restore glucocerebrosidase expression, thereby replacing the aff

130 -PHP.S capsid to target the lysosomal enzyme glucocerebrosidase for peripheral gene transfer, we foun

131 advances in mechanistic characterization of glucocerebrosidase function as the foundation for develo

132 without GBA mutations suggests that loss of glucocerebrosidase function contributes to the pathogene

133 lipid droplet clearance screen, can improve glucocerebrosidase function in Gaucher patient-derived f

134 r's disease, characterized by <15% of normal glucocerebrosidase function, is the most common LSD and

135 Although the functional gene for glucocerebrosidase (GBA) and its pseudogene (psGBA), loc

136 As mutations in the GBA gene encoding glucocerebrosidase (GBA) are known to interfere with lys

137 The inherited deficiency of the lysosomal glucocerebrosidase (GBA) due to mutations in the GBA gen

138 Gaucher disease L444P point mutation in the glucocerebrosidase (Gba) gene and exhibiting a partial e

139 Importance: Mutations in the glucocerebrosidase (GBA) gene are a risk factor for the

140 iduals with mutation in the lysosomal enzyme glucocerebrosidase (GBA) gene are at significantly high

141 utation in the LRRK2 gene, a mutation in the glucocerebrosidase (GBA) gene, or both.

142 Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosom

143 , leucine rich repeat kinase 2 (LRRK-2), and glucocerebrosidase (GBA) have shown that genetic predisp

144 D) in patients with Gaucher disease (GD) and glucocerebrosidase (GBA) heterozygotes is important for

145 motor exam score, sex, depression, and beta-glucocerebrosidase (GBA) mutation status were included i

146 Glucocerebrosidase (GBA) mutations have been associated

147 epeat kinase 2(LRRK2) G2019S variation and a glucocerebrosidase (GBA) variant would have a combined d

148 frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes G

149 disorder caused by functional deficiency of glucocerebrosidase (GBA), a lysosomal enzyme that hydrol

150 amide catalyzed by the lysosomal enzyme beta-glucocerebrosidase (GBA).

151 Ds caused by mutations to the lysosomal beta-glucocerebrosidase (GBA).

152 disease is caused by inherited deficiency in glucocerebrosidase (GBA, a retaining beta-glucosidase),

153 mide levels in colonoids via an inhibitor of glucocerebrosidase (GBA, the enzyme that degrades glucos

154 lysosomal glucosylceramide-degrading enzyme (glucocerebrosidase, GBA), CBE inactivated GBA2 less effi

155 While mutations in glucocerebrosidase (GBA1) are associated with an increas

156 Loss of lysosomal glucocerebrosidase (GBA1) function is responsible for se

157 Biallelic mutations in the glucocerebrosidase (GBA1) gene cause Gaucher disease, ch

158 Glucocerebrosidase (GBA1) gene mutations increase the ri

159 etic disease caused by mutations in the beta-glucocerebrosidase (GBA1) gene that have been also linke

160 Mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the lyso

161 Glucocerebrosidase (GBA1) mutations are associated with

162 GL-1 or LysoGL-1 produced by extralysosomal glucocerebrosidase GBA2 contribute to the GD1 pathophysi

163 disease, resulting from deficient lysosomal glucocerebrosidase (GC) activity, is the most common lys

164 e (GD) is characterized by loss of lysosomal glucocerebrosidase (GC) activity.

165 system, as a consequence of a deficiency in glucocerebrosidase (GC) activity.

166 n generated that delivers both a therapeutic glucocerebrosidase (GC) cDNA for the treatment of Gauche

167 They exhibited low glucocerebrosidase (GC) enzymatic activity and accumulat

168 e retroviral vector that contained the human glucocerebrosidase (GC) gene.

169 Mutations within the lysosomal enzyme beta-glucocerebrosidase (GC) result in Gaucher disease and re

170 plays a pivotal role in the delivery of beta-glucocerebrosidase (GC) to lysosomes.

171 ysosomal activity of a severely destabilized glucocerebrosidase (GC) variant associated with the deve

172 ns in the gene encoding the lysosomal enzyme glucocerebrosidase (GC).

173 gene, which result in deficient enzyme beta-glucocerebrosidase (GCase) activity and production with

174 LysoFix-GBA, which enables quantification of glucocerebrosidase (GCase) activity in both live and fix

175 Association between variants and glucocerebrosidase (GCase) activity was analyzed in 715

176 unction through delivery of GBA1 to increase glucocerebrosidase (GCase) activity, and reducing alpha-

177 lable, and although infusions of recombinant glucocerebrosidase (GCase) ameliorate the systemic effec

178 GBA encodes the lysosomal enzyme glucocerebrosidase (GCase) but the mechanisms by which l

179 GBA1 mutations that encode lysosomal B-glucocerebrosidase (GCase) cause the lysosomal storage d

180 f activity of the lysosomal glycosidase beta-glucocerebrosidase (GCase) causes the lysosomal storage

181 (GD) results from mutations in the acid beta-glucocerebrosidase (GCase) encoding gene, GBA, which lea

182 associated with a decreased activity of the glucocerebrosidase (GCase) enzyme in brain tissues.

183 age disorder caused by mutations in the beta-glucocerebrosidase (GCase) GBA gene, which result in mac

184 We investigated the enzymatic activity of glucocerebrosidase (GCase) in PD brains carrying heteroz

185 e, we show that functional loss of GD-linked glucocerebrosidase (GCase) in primary cultures or human

186 Glucocerebrosidase (GCase) is implicated in both a rare,

187 Impairment in glucocerebrosidase (GCase) is strongly associated with t

188 iciency of the lysosomal glycoside hydrolase glucocerebrosidase (GCase) leads to abnormal accumulatio

189 in the GBA1 gene that encodes lysosomal beta-glucocerebrosidase (GCase) represent an important risk f

190 Stabilization of misfolded mutant beta-glucocerebrosidase (GCase) represents an important thera

191 GBA1 encodes the lysosomal lipid hydrolase glucocerebrosidase (GCase), and its activity has been li

192 A1, the gene that encodes for lysosomal beta-glucocerebrosidase (GCase), and Parkinson's disease lies

193 1, the gene encoding the lysosomal hydrolase glucocerebrosidase (GCase), are a risk factor for parkin

194 GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are the most important genet

195 Mutations in GBA1, encoding glucocerebrosidase (GCase), cause Gaucher disease (GD) a

196 utations in GBA1, the gene that encodes beta-glucocerebrosidase (GCase), cause Gaucher disease (GD),

197 GBA, the gene encoding the lysosomal enzyme glucocerebrosidase (GCase), represent the greatest genet

198 which encodes for the lysosomal enzyme beta-glucocerebrosidase (GCase), resulting in the accumulatio

199 s have been found to be potent inhibitors of glucocerebrosidase (GCase), the beta-glucosidase enzyme

200 Mutations in glucocerebrosidase (GCase), the enzyme deficient in Gauc

201 GBA encodes for glucocerebrosidase (GCase), the enzyme deficient in the

202 BA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase).

203 he glucosidase, beta, acid gene that encodes glucocerebrosidase (GCase).

204 e GBA gene that encodes the lysosomal enzyme glucocerebrosidase (GCase).

205 ithin the gene encoding the lysosomal enzyme glucocerebrosidase (GCase).

206 mutations in the gene coding for the enzyme glucocerebrosidase (GCase).

207 evelop new therapeutics that target LRRK2 or glucocerebrosidase (GCase).

208 ic GBA1/Gba1 mutations that encode defective glucocerebrosidase (GCase).

209 in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase).

210 a critical activator of the lysosomal enzyme glucocerebrosidase (GCase).

211 omal disease caused by mutations in the beta-glucocerebrosidase gene ( GBA1 and GCase) that have been

212 Mutations in the glucocerebrosidase gene (GBA) are associated with Gauche

213 Carriers of mutations in the glucocerebrosidase gene (GBA) are at increased risk of d

214 thesized that specific mutations in the beta-glucocerebrosidase gene (GBA) causing neuropathic Gauche

215 Mutations in the glucocerebrosidase gene (GBA) confer a heightened risk o

216 Parkinson disease (PD) is the presence of a glucocerebrosidase gene (GBA) mutation.

217 Mutations in the glucocerebrosidase gene (GBA) represent a significant ri

218 etabolic disorder caused by mutations in the glucocerebrosidase gene (GBA), is the most common lysoso

219 Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disea

220 sease (PD) with and without mutations on the glucocerebrosidase gene (GBA).

221 pe 1 Gaucher disease (GD1), mutations in the glucocerebrosidase gene (GBA1) gene result in glucocereb

222 Glucocerebrosidase gene (GBA1) variants are found in 10-

223 linical association between mutations in the glucocerebrosidase gene and the development of more prev

224 Many mutations affecting the glucocerebrosidase gene have been defined as causes of t

225 The glucocerebrosidase gene is located in a gene-rich region

226 al enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in the breakdown of

227 aucher disease is caused by mutations in the glucocerebrosidase gene, which encodes the lysosomal hyd

228 isorder caused by mutations in the acid beta-glucocerebrosidase gene.

229 storage disorder caused by mutations in the glucocerebrosidase gene.

230 lthough >100 mutations in the gene for human glucocerebrosidase have been described, most genotype-ph

231 Lysosomal acid beta-glucocerebrosidase hydrolyzes glucocerebroside to glucos

232 a small-molecule noninhibitory chaperone of glucocerebrosidase identified by high-throughput screeni

233 with alglucerase or the recombinant from of glucocerebrosidase imiglucerase is effective in treating

234 To study how glucocerebrosidase impacts parkinsonism and to evaluate

235 Importantly, hippocampal expression of glucocerebrosidase in Gba1(D409V/D409V) mice (starting a

236 an in PD, providing insight into the role of glucocerebrosidase in Lewy body disease.

237 wing infusion of recombinant human acid beta-glucocerebrosidase in mice, nonparenchymal cells are pre

238 ated disorders, suggesting a broader role of glucocerebrosidase in neurodegeneration.

239 he lysosome as measured by immunostaining of glucocerebrosidase in patient fibroblasts.

240 development of novel therapeutics targeting glucocerebrosidase in PD and related disorders.

241 hanced delivery for regional distribution of glucocerebrosidase in rat and primate brains and examine

242 tions also exhibit lower enzymatic levels of glucocerebrosidase in the central nervous system (CNS),

243 Correspondingly, overexpression of glucocerebrosidase in the CNS of A53T alpha-synuclein mi

244 deno-associated virus-mediated expression of glucocerebrosidase in the CNS of symptomatic Gba1(D409V/

245 ently, we found that the retention of mutant glucocerebrosidase in the endoplasmic reticulum and incr

246 nd circumvents potential toxicity of ectopic glucocerebrosidase in the stem cells.

247 deno-associated virus-mediated expression of glucocerebrosidase in the Thy1-SNCA mouse striatum led t

248 Activity of beta-glucocerebrosidase increased after PPARalpha-activator t

249 Similar results were observed upon glucocerebrosidase inhibition by conduritol beta-epoxide

250 Application to conduritol B epoxide-, a beta-glucocerebrosidase inhibitor, treated RAW 264.7 cells de

251 ate how the lipophilic moiety common to many glucocerebrosidase inhibitors might be used to optimize

252 ctural series of potent, selective, nonsugar glucocerebrosidase inhibitors.

253 l binding among the different series of beta-glucocerebrosidase inhibitors.

254 iated virus-mediated expression of exogenous glucocerebrosidase injected into the hippocampus of Gba1

255 Beta-glucocerebrosidase is a lysosomal hydrolase, encoded by

256 Carrying a variation in the gene for beta-glucocerebrosidase is a major risk factor for Parkinson

257 tal-derived or recombinant form of acid beta-glucocerebrosidase is targeted to the macrophages.

258 characterized by a deficiency in the enzyme glucocerebrosidase, leading to the accumulation of gluco

259 eficient fibroblasts led to a rescue of beta-glucocerebrosidase levels and distribution.

260 son disease dementia (PDD), and raising beta-glucocerebrosidase levels lowers alpha-synuclein in cell

261 Mean (SD) beta-glucocerebrosidase levels were higher at week 26 (ambrox

262 icient enzymatic activity, reduced lysosomal glucocerebrosidase levels, and storage of glucosylcerami

263 F proteins such as the lysosomal enzyme beta-glucocerebrosidase may assist in prognostication or allo

264 t noninhibitory small-molecule chaperones of glucocerebrosidase may prove useful for the treatment of

265 tients with Gaucher disease and heterozygous glucocerebrosidase mutation carriers are at increased ri

266 y controls, Gaucher disease and heterozygous glucocerebrosidase mutation carriers with and without Pa

267 ts with Gaucher disease and six heterozygous glucocerebrosidase mutation carriers with and without Pa

268 older brother, homozygous for the same 1226G glucocerebrosidase mutation, is found on routine examina

269 In conclusion, glucocerebrosidase mutations are associated with reducti

270 Indeed, glucocerebrosidase mutations are the most frequent risk

271 cells and may provide an explanation for how glucocerebrosidase mutations increase the risk of develo

272 t need to understand the mechanisms by which glucocerebrosidase mutations predispose to neurodegenera

273 markers of oxidative stress in cells bearing glucocerebrosidase mutations.

274 ambroxol and GZ667161 (two modulators of the glucocerebrosidase pathway in clinical development for t

275 human placental-derived and recombinant beta-glucocerebrosidase (pGCR and rGCR, respectively).

276 ospondin 3 (THBS3) and to the pseudogene for glucocerebrosidase (psGBA), but it transcribed in a dire

277 rmalities and kidney failure and, as an acid glucocerebrosidase receptor, impacts Gaucher and Parkins

278 o evaluate the efficacy of in vivo acid beta-glucocerebrosidase replacement therapy in animal models.

279 Mutations of GBA1, the gene encoding glucocerebrosidase, represent a common genetic risk fact

280 torage disease, is caused by a deficiency of glucocerebrosidase resulting in the impairment of glucos

281 howed an age-dependent, secondary storage of glucocerebrosidase substrate glucosylsphingosine.

282 clude a gain-of-function due to mutations in glucocerebrosidase that promotes alpha-synuclein aggrega

283 re potent, low-nanomolar inhibitors of human glucocerebrosidase that stabilize the enzyme to thermal

284 ents were monitored for antibody response to glucocerebrosidase, the active component of alglucerase.

285 beta-glucocerebrosidase, the enzyme defective in Gaucher dise

286 Mutations in GBA, the gene encoding glucocerebrosidase, the enzyme deficient in Gaucher dise

287 They show that beta-glucocerebrosidase-the lysosomal enzyme defective in pat

288 sease involves administration of intravenous glucocerebrosidase to degrade glucocerebroside stored in

289 inergic neurons, indicating that chaperoning glucocerebrosidase to the lysosome may provide a novel t

290 cts of depleting endogenous plasma GlcCer by glucocerebrosidase treatment or of adding exogenous puri

291 Glucocerebrosidase treatment reduced plasma sensitivity

292 y to study heat-induced aggregation of human glucocerebrosidase unequivocally links loss of conformat

293 ineered GBA1 transgene that encodes a unique glucocerebrosidase variant (GCase85).

294 Missorting of beta-glucocerebrosidase was also evident in vivo, as protein

295 Avid and saturable uptake of modified glucocerebrosidase was found, which indicates high-affin

296 ese mice indicated that the majority of beta-glucocerebrosidase was secreted.

297 ly, activity of the GBA-encoded enzyme, beta-glucocerebrosidase, was increased, suggesting the existe

298 al for normal stratum corneum function, beta-glucocerebrosidase, which converts glucosylceramide to c

299 Ambroxol is a chaperone for beta-glucocerebrosidase, which increases the levels of beta-g

300 nd to be good inhibitors of recombinant beta-glucocerebrosidase with Ki values between 8.3 and 17 muM