ライフサイエンスコーパス: alpha-galactosidase

1 e expression of aga, the structural gene for alpha-galactosidase.

2 ently hydrolyzed to galactose and glucose by alpha-galactosidase.

3 activity-based probes that target retaining alpha-galactosidases.

4 sidase (2U/mL), beta-glucosidase (0.3 U/mL), alpha-galactosidase (1.2 U/mL), beta-galactosidase (0.4

5 lage specimens were treated with recombinant alpha-galactosidase (100 U/ml), and the absence of alpha

6 eta-mannanase (1021), endo-xylanase (1 9 1), alpha-galactosidase (3.42), beta-xylosidase (0.07) and b

7 lticenter phase 3 trial of recombinant human alpha -galactosidase A (rh-alpha GalA) replacement in pa

8 lysosomal storage disease caused by loss of alpha galactosidase A (alpha-Gal A) activity and is char

9 stem/progenitor cells engineered to express alpha-galactosidase A (a-gal A).

10 urrently, no method is available to identify alpha-galactosidase A (agalA) mutations determining clin

11 sive disorder in which affected persons lack alpha-galactosidase A (alpha -GalA), which leads to exce

12 Fabry disease results from deficient alpha-galactosidase A (alpha-Gal A) activity and the pat

13 -linked lysosomal storage disorder caused by alpha-galactosidase A (alpha-GAL A) deficiency.

14 X-linked lysosomal storage disease caused by alpha-galactosidase A (alpha-Gal A) deficiency.

15 could lower globotriaosylceramide levels in alpha-galactosidase A (alpha-gal A) knockout mice, a mod

16 used by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A).

17 sulting from deficient activity of lysosomal alpha-galactosidase A (alpha-Gal A).

18 used by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A).

19 used by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A).

20 metabolic disorder caused by a deficiency of alpha-galactosidase A (alpha-Gal A).

21 c disorder that is caused by a deficiency of alpha-galactosidase A (alpha-Gal A).

22 ical mutations in the GLA gene which encodes alpha-galactosidase A (alpha-Gal A).

23 ith Fabry disease, an X-linked deficiency of alpha-galactosidase A (alpha-Gal A).

24 bry disease is an X-linked inherited loss of alpha-galactosidase A (alpha-Gal A).

25 A deficiency in the lysosomal hydrolase alpha-galactosidase A (alpha-gal A; EC ) leads to impair

26 om mutations in the gene encoding the enzyme alpha-galactosidase A (alpha-gal A; EC ).

27 ed metabolic disorder due to a deficiency of alpha-galactosidase A (alpha-gal A; EC 3.2.1.22).

28 e galactosidase alpha (GLA), which codes for alpha-Galactosidase A (alpha-GAL) enzyme, in a human car

29 Plasma alpha-galactosidase A (alpha-Gal) was measured in 79 men

30 antigen only accumulates upon inhibition of alpha-galactosidase A (alpha-Gal-A) in lysosomes.

31 Clinical assessments, alpha-galactosidase A (alpha-GalA) activities, glycosphi

32 hat encodes the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-GalA), cause Fabry disease,

33 em storage disorder due to the deficiency of alpha-galactosidase A (GALA).

34 osomal storage disorder due to deficiency of alpha-galactosidase A (GLA) activity that results in the

35 Alpha-galactosidase A (Gla) deficiency leads to widespre

36 rom the lack or dysfunction of the lysosomal alpha-galactosidase A (GLA) enzyme, resulting in substra

37 novel PET tracer ([(18)F]AGAL) for targeting alpha-galactosidase A (GLA), an enzyme deficient in Fabr

38 tations in sarcomere protein, PRKAG2, LAMP2, alpha-galactosidase A (GLA), and several mitochondrial g

39 n label extension study of recombinant human alpha-galactosidase A (r-halphaGalA), administered i.v.

40 acement therapy for Fabry disease (deficient alpha-galactosidase A [alpha-Gal A] activity) were perfo

41 Fabry disease, patients have some preserved alpha-galactosidase A activity and a milder disease cour

42 sidase A gene knockout (Gla KO) mice have no alpha-galactosidase A activity and progressively accumul

43 ical course, with approximately 15% residual alpha-galactosidase A activity with normal plasma lyso-g

44 , a genetic disorder caused by deficiency of alpha-galactosidase A activity, is associated with CV dy

45 phenotype observed in patients with residual alpha-galactosidase A activity.

46 ation in the skin due to deficient lysosomal alpha-galactosidase A activity.

47 y disease is caused by deficient activity of alpha-galactosidase A and subsequent accumulation of gly

48 rage disease caused by deficient activity of alpha-galactosidase A and the resultant systemic accumul

49 ormal individuals and patients and mice with alpha-galactosidase A deficiency (human Fabry disease).

50 Fabry disease (alpha-galactosidase A deficiency) is a rare, X-linked ly

51 Fabry disease (alpha-galactosidase A deficiency) is an X-linked recessi

52 Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progr

53 In 5- to 6-month-old mice with alpha-galactosidase A deficiency, the average GL-3 conce

54 lation in the heart resulting from lysosomal alpha-galactosidase A deficiency.

55 unity, Darmoise et al. report that lysosomal alpha-galactosidase A destroys self-antigens recognized

56 omal storage disorder caused by a deficit in alpha-galactosidase A enzyme activity leading to glycosp

57 Leukocyte alpha-galactosidase A enzyme activity was mildly reduced

58 sorder caused by the absence or reduction of alpha-galactosidase A enzyme activity.

59 increase in the activity of the therapeutic alpha-galactosidase A enzyme after intramuscular adminis

60 ulum stress and unfolded protein response of alpha-galactosidase A expressing cells as a contributor

61 alpha-Galactosidase A gene knockout (Gla KO) mice have n

62 istics of the N215S (c.644A>G [p.Asn215Ser]) alpha-galactosidase A gene variant.

63 We studied whether cardio-specific alpha-galactosidase A gene variants are misinterpreted a

64 th X-linked Fabry disease (FD) caused by GLA(alpha-galactosidase A gene) mutations encoding p.D322E (

65 alpha-Galactosidase A genotype N215S does not lead to th

66 dy, 20 of the 29 patients in the recombinant alpha-galactosidase A group (69 percent) had no microvas

67 Patients in the recombinant alpha-galactosidase A group also had decreased microvasc

68 ercent of patients in the former recombinant alpha-galactosidase A group who had biopsies had clearan

69 ), which were more common in the recombinant alpha-galactosidase A group.

70 organ distribution of selected glycoforms of alpha-galactosidase A in a Fabry disease mouse model, an

71 the safety and effectiveness of recombinant alpha-galactosidase A in a multicenter, randomized, plac

72 hereafter, all patients received recombinant alpha-galactosidase A in an open-label extension study.

73 controlled trial of intravenous infusions of alpha-galactosidase A in patients with Fabry disease dem

74 he finding of a marked decreased activity of alpha-galactosidase A in white blood cells or cultured s

75 ificance of a number of missense variants of alpha-galactosidase A is often ambiguous.

76 Defects in the gene encoding alpha-galactosidase A lead to accumulation of globotriao

77 t long-term treatment with recombinant human alpha-galactosidase A may halt the progression of vascul

78 Specific alpha-galactosidase A mutations were identified in 17 pa

79 Recombinant alpha-galactosidase A replacement therapy cleared microv

80 cal trials have shown that recombinant human alpha-galactosidase A replacement therapy--the only dise

81 identified defective proteostasis of mutated alpha-galactosidase A resulting in chronic endoplasmic r

82 sease is an X-linked lysosomal deficiency of alpha-galactosidase A that results in cellular accumulat

83 a double-blind, placebo-controlled trial of alpha-galactosidase A therapy, the resting regional cere

84 Five months of recombinant human alpha-galactosidase A treatment in the phase 3 trial res

85 nd organ pathology correlates of the p.L394P alpha-galactosidase A variant that was identified initia

86 Defective proteostasis of some missense alpha-galactosidase A variants induced chronic endoplasm

87 assic and non-classic Fabry disease missense alpha-galactosidase A variants.

88 Extracellular alpha-galactosidase A was purified from the culture filt

89 ocumented intracellular retention of mutated alpha-galactosidase A with resulting endoplasmic reticul

90 omal storage disorder caused by alpha-Gal A (alpha-galactosidase A) deficiency, resulting in multiorg

91 Fabry rat eyes accumulated substrates of alpha-galactosidase A, and these alpha-galactosyl glycoc

92 zymes cathepsin L, cathepsin A, cathepsin D, alpha-galactosidase A, arylsulfatase A, and alpha-iduron

93 that result in loss of enzymatic activity of alpha-galactosidase A, lysosomal storage of globotriaosy

94 ttributed to catalytic deficiency of mutated alpha-galactosidase A, lysosomal storage, and impairment

95 mal storage disorder caused by deficiency of alpha-galactosidase A, resulting in glycosphingolipid ac

96 ted on a recombinant lysosomal enzyme, human alpha-galactosidase A, that contains mannose 6-phosphate

97 A lysosomal enzyme, alpha-galactosidase A, was responsible for the processin

98 isorder caused by a deficiency of the enzyme alpha-galactosidase A, which results in the progressive

99 verstimulation and deletion of iNKT cells in alpha-galactosidase A-deficient (alphaGalA(-/-)) mice (h

100 We aimed to evaluate ocular phenotypes in alpha-galactosidase A-deficient (Fabry) rats and hypothe

101 M., alpha-Galactosidase A-deficient rats accumulate glycosph

102 , globoside, the disialoganglioside, GD3, or alpha-galactosidase A-digested fraction 3 had no effect.

103 to below starting levels, consistent with an alpha-galactosidase A-independent salvage pathway for gl

104 ide (Gb3Cer) in the kidneys of wild-type and alpha-galactosidase A-knockout (Fabry) mice was possible

105 lity and glycolipid accumulation, we studied alpha-galactosidase A-knockout mice or primary cultures

106 Recent studies in the alpha-galactosidase A-knockout mouse suggested that a de

107 ity, associated with eNOS uncoupling, in the alpha-galactosidase A-knockout mouse.

108 percent of patients who received recombinant alpha-galactosidase A.

109 l storage disorder caused by a deficiency of alpha-galactosidase A.

110 abolism resulting from deficient activity of alpha-galactosidase A.

111 omal storage disease caused by deficiency of alpha-galactosidase A.

112 ed by deficient activity of lysosomal enzyme alpha-galactosidase A.

113 disease, which is caused by a deficiency in alpha-galactosidase A.

114 vascular tissue secondary to a deficiency in alpha-galactosidase A.

115 n-label extension study of recombinant human alpha-galactosidase A.

116 the GLA gene, which leads to a deficiency in alpha-galactosidase A.

117 sed CGT, GalT2, and GalT6 but did not change alpha-galactosidase activities or mRNA levels.

118 T had greater Gb3 synthase (GalT6) and lower alpha-galactosidase activities than HBEC, whereas lactos

119 The bacteria had an 85% reduction in alpha-galactosidase activity and showed virtually no tra

120 from P(A) results in a 500-fold increase in alpha-galactosidase activity in the cell.

121 The lower HPT alpha-galactosidase activity was associated with reduced

122 t the initiating enzyme in this pathway, the alpha-galactosidase Aga (a family 36 glycoside hydrolase

123 The alpha-galactosidase AgaA from the thermophilic microorga

124 zymes acid-beta-glucosidase (GCase) and acid-alpha-galactosidase (alpha-Gal A) hydrolyze the sphingol

125 ne noroviruses (genogroup III) interact with alpha-galactosidase (alpha-Gal) carbohydrates, and murin

126 Deficiency in the lysosomal enzyme alpha-galactosidase (alpha-GAL) causes an accumulation o

127 The enzyme alpha-galactosidase (alpha-GAL, also known as alpha-GAL

128 The human lysosomal enzymes alpha-galactosidase (alpha-GAL, EC 3.2.1.22) and alpha-N

129 Alpha-galactosidase (alpha-Gal; EC 3.2.1.22) is involved

130 lar activities of the lysosomal glycosidases alpha-galactosidase, alpha-mannosidase and neuraminidase

131 eficiency or reduced activity of the enzyme (alpha - Galactosidase; alpha-Gal) leads to the accumulat

132 obes 3 and 4 inhibit the two human retaining alpha-galactosidases alphaGal A and alphaGal B covalentl

133 has been shown to restore activity of mutant alpha-galactosidase and is currently in clinical trial f

134 Here, we show that MYORG is an alpha-galactosidase and present the high-resolution crys

135 Fabry disease stems from a deficiency of alpha-galactosidase and results in the accumulation of g

136 New alpha-galactosidases and alpha-N-acetylgalactosaminidase

137 n in expression of the raf operon genes aga (alpha-galactosidase) and rafEFG (raffinose substrate bin

138 ase-2, hexosaminidase, galactosylceramidase, alpha-galactosidase, and beta-galactosidase) mediating g

139 ch other by results for raffinose, rhamnose, alpha-galactosidase, and beta-galactosidase: positive, n

140 cible alpha-glucosidase, raffinose-inducible alpha-galactosidase, and cellobiose-inducible beta-gluco

141 ective hydrolysis of RFOs increase the Cicer alpha-galactosidase application in food processing indus

142 2 (mannitol negative and beta galactosidase, alpha galactosidase, beta glucuronidase, and trehalose p

143 o-incubation of BoMan26B and the periplasmic alpha-galactosidase BoGal36A increased the rate of galac

144 annanases, BoMan26A and BoMan26B, and a GH36 alpha-galactosidase, BoGal36A.

145 alpha-Galactosidase caused loss of both L1 structures an

146 tly identified a novel prokaryotic family of alpha-galactosidases (CAZy GH110) with highly restricted

147 s disease, an X-linked disorder of lysosomal alpha-galactosidase deficiency, leads to substrate accum

148 s a rare, sex-linked disorder resulting from alpha-galactosidase deficiency.

149 ial transport of a model therapeutic enzyme (alpha-galactosidase, deficient in lysosomal Fabry diseas

150 d lectins, following treatment of cells with alpha-galactosidase, demonstrate that differentiated cel

151 btained by hydrolyzing native guar gum using alpha-galactosidase enzyme.

152 en use TDVAE to design variants of the human alpha galactosidase enzymes as potential treatment for F

153 The subcellular distribution of recombinant alpha-galactosidase expressed from different vectors was

154 ed that 50 of the 67 participants had mutant alpha-galactosidase forms suitable for targeting by miga

155 The initial assay of mutant alpha-galactosidase forms that we used to categorize 67

156 all randomly assigned patients (with mutant alpha-galactosidase forms that were suitable or not suit

157 int analysis, involving patients with mutant alpha-galactosidase forms that were suitable or not suit

158 nd GH36 through biochemical analysis of GH36 alpha-galactosidase from Thermotoga maritima (TmGalA).

159 lysosomal storage disorder caused by loss of alpha-galactosidase function.

160 nhanced GalT6 gene transcription and reduced alpha-galactosidase gene transcription and occur despite

161 a rare disorder caused by variations in the alpha-galactosidase gene.

162 ivery of the human coagulation factor IX and alpha-galactosidase genes into endogenous genomic loci w

163 osome-associated membrane protein 2 (LAMP2), alpha-galactosidase (GLA), and acid alpha-1,4-glucosidas

164 saposin (Psap), Niemann Pick type C2 (Npc2), alpha-galactosidase (Gla), are up-regulated in early adi

165 alpha-galactosidase has been shown to reduce gas product

166 tophan residue at position 16 of coffee bean alpha-galactosidase has previously been shown to be esse

167 nnose 6-phosphate measured and the amount of alpha-galactosidase hydrolyzed.

168 To evaluate the efficacy and tolerability of alpha-galactosidase in the treatment of gas-related symp

169 alization of the endogenous activity of both alpha-galactosidases in cell extracts, thereby providing

170 aperone, stabilizes specific mutant forms of alpha-galactosidase, increasing enzyme trafficking to ly

171 Then, a CRISPR/Cas9-mediated alpha-galactosidase knockout podocyte cell line confirme

172 Furthermore, a recombinant alpha-galactosidase molecule with a His6 tag at its C-te

173 RNA steady-state levels but no difference in alpha-galactosidase mRNA half-life.

174 osidase activity was associated with reduced alpha-galactosidase mRNA steady-state levels but no diff

175 oss of function observed for the more severe alpha-galactosidase mutants could be enhanced by combini

176 egatively affected by protein aggregation of alpha-galactosidase mutants, revealing a qualitative dif

177 re randomized to receive placebo (n = 25) or alpha-galactosidase (n = 27).

178 Incubation with alpha-galactosidase resulted in complete removal of alph

179 er trials are needed to confirm this result, alpha-galactosidase seems to be a safe, well tolerated a

180 alpha-galactosidase significantly reduced global distres

181 pid Globotriaosylceramide (GB3), which is an alpha-galactosidase substrate.

182 Treatment of cartilage xenografts with alpha-galactosidase successfully removes alpha-gal epito

183 h is in striking contrast to all other known alpha-galactosidases that use a retaining mechanism.

184 ized tissues were enzymatically treated with alpha-galactosidase to cleave the primary xenoantigen-th

185 Porcine PTs were treated with recombinant alpha-galactosidase to eliminate alpha-gal epitopes and

186 The inflammatory response within the alpha-galactosidase-treated xenografts was much lower th

187 Our results suggest that combining MD with alpha-galactosidase treatment is an efficient method for

188 Moreover, alpha-galactosidase treatment was crucial for cleaving a

189 In addition, recombinant alpha-galactosidase was compared to the native enzyme wi

190 Cicer alpha-galactosidase was immobilized onto functionalized

191 A cDNA encoding coffee bean alpha-galactosidase was subcloned into baculovirus expre

192 The expressed protein (recombinant alpha-galactosidase) was immunologically reactive with a

193 synthase (GalT2), Gb3 synthase (GalT6), and alpha-galactosidase were studied in HBECs exposed to TNF

194 s also sensitive for as little as 2.5 microg alpha-galactosidase, which contains 117 pmol mannose 6-p

195 Among patients with suitable mutant alpha-galactosidase who received migalastat for up to 24

196 In search of alpha-galactosidases with improved kinetic properties fo