ライフサイエンスコーパス: alpha-galactosidase A

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

59 Leukocyte alpha-galactosidase A enzyme activity was mildly reduced

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

95 Recombinant alpha-galactosidase A replacement therapy cleared microv

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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