ライフサイエンスコーパス: lysosomal storage disease

1 ype IV mucolipidosis, an autosomal recessive lysosomal storage disease.

2 missing lysosomal enzyme to a fetus with any lysosomal storage disease.

3 ctive in subjects with the Gaucher's form of lysosomal storage disease.

4 l ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease.

5 tion in neonatal normal and mutant mice with lysosomal storage disease.

6 sosomal enzymes, a finding characteristic of lysosomal storage disease.

7 n, synaptic signaling, and neurodegenerative lysosomal storage disease.

8 -Pick type C (NPC) is an autosomal recessive lysosomal storage disease.

9 cerebrosidase gene (GBA), is the most common lysosomal storage disease.

10 ic leukodystrophy (MLD), a neurodegenerative lysosomal storage disease.

11 ients with neuronal ceroid lipofuscinosis, a lysosomal storage disease.

12 is (INCL) is a devastating neurodegenerative lysosomal storage disease.

13 o mucolipidosis type IV, a neurodegenerative lysosomal storage disease.

14 re cleared more slowly in a mouse model of a lysosomal storage disease.

15 ts with Gaucher disease and, possibly, other lysosomal storage diseases.

16 cathepsins that manifests hallmarks of human lysosomal storage diseases.

17 nsient immunosuppression may enhance ERT for lysosomal storage diseases.

18 vastating, irreversible complications of the lysosomal storage diseases.

19 ely treats many of the manifestations of the lysosomal storage diseases.

20 atment modality available for several of the lysosomal storage diseases.

21 ith Pompe disease and in patients with other lysosomal storage diseases.

22 hanism of degenerative cell death in several lysosomal storage diseases.

23 ement therapy (ERT) is available for several lysosomal storage diseases.

24 ilitate the study of potential therapies for lysosomal storage diseases.

25 ERT) effectively reverses storage in several lysosomal storage diseases.

26 therapy is an established means of treating lysosomal storage diseases.

27 rs in the majority of the more than 40 known lysosomal storage diseases.

28 enzyme-replacement therapy for certain human lysosomal storage diseases.

29 of foam cells commonly associated with other lysosomal storage diseases.

30 the accumulation of undegraded substrates in lysosomal storage diseases.

31 e in patients with FD, as reported for other lysosomal storage diseases.

32 potential for gene therapy of MPS and other lysosomal storage diseases.

33 ndosome compartment resembling those seen in lysosomal storage diseases.

34 is relatively effective for the treatment of lysosomal storage diseases.

35 yme replacement therapy for the treatment of lysosomal storage diseases.

36 itable target population for gene therapy of lysosomal storage diseases.

37 ital disorders of the myeloid system such as lysosomal storage diseases.

38 ay impact strategies for the gene therapy of lysosomal storage diseases.

39 ermined with an approach applicable to other lysosomal storage diseases.

40 gies, such as cancer, neurodegeneration, and lysosomal storage diseases.

41 a powerful technique for early assessment of lysosomal storage diseases.

42 on to support worldwide newborn screening of lysosomal storage diseases.

43 ammation, which are biochemical hallmarks of lysosomal storage diseases.

44 ent of neurological symptoms present in most lysosomal storage diseases.

45 tion of multilamellar bodies typical of many lysosomal storage diseases.

46 ll-studied group of inherited disorders, the lysosomal storage diseases.

47 2+) homoeostasis are common features in many lysosomal storage diseases.

48 t therapy has been used successfully in many lysosomal storage diseases.

49 ological chaperoning in the entire family of lysosomal storage diseases.

50 t therapy has been used successfully in many lysosomal storage diseases.

51 ve outcomes in patients with MPS I and other lysosomal storage diseases.

52 gous mutant enzymes associated with distinct lysosomal storage diseases.

53 ies and their impact on clinical outcomes of lysosomal storage diseases.

54 will be important for the treatment of many lysosomal storage diseases affecting the brain, because

55 Fabry disease is an X-linked lysosomal storage disease afflicting 1 in 40,000 males w

56 hypertrophic cardiomyopathy and phenocopies lysosomal storage diseases, although mTORC1 activity is

57 syndromes of different etiologies, including lysosomal storage diseases, Alzheimer's disease and othe

58 consequences of ganglioside accumulation in lysosomal storage disease and free cholesterol accumulat

59 glycosphingolipids in an in vitro model of a lysosomal storage disease and raise the possibility that

60 a potential therapeutic strategy for certain lysosomal storage diseases and common neurodegenerative

61 ortant, advancements for patients with other lysosomal storage diseases and genetic diseases.

62 role in the therapeutic efficacy of BMT for lysosomal storage diseases and may have implications for

63 for the treatment of CNS pathology in other lysosomal storage diseases and neurodegenerative disorde

64 nd other inborn errors of metabolism such as lysosomal storage diseases and neurodevelopmental diseas

65 teractions of saposins in GSL metabolism and lysosomal storage diseases, and prosaposin's physiologic

66 Lysosomal storage diseases are a group of rare, inborn,

67 Lysosomal storage diseases are a heterogeneous group of

68 mucolipidosis type IV and several unrelated lysosomal storage diseases are associated with significa

69 Lysosomal storage diseases are characterized by deficien

70 Lysosomal storage diseases are devastating illnesses, in

71 Lysosomal storage diseases are good candidates for centr

72 Lysosomal storage diseases are inborn errors of metaboli

73 Several proteins that are mutated in lysosomal storage diseases are linked to neurodegenerati

74 mitochondrial alterations observed in these lysosomal storage diseases are reproduced in control cel

75 se, and exciting new therapeutic options for lysosomal storage diseases are the focus of this review.

76 features observed in patients with ML II, a lysosomal storage disease, are also present in these mic

77 ining the beneficial effects of genistein in lysosomal storage diseases as well as envisage new thera

78 Mucolipidosis type IV is a genetic lysosomal storage disease associated with degenerative p

79 ), Batten disease, is an autosomal recessive lysosomal storage disease associated with mutations in C

80 ice displayed the characteristic features of lysosomal storage disease because of GUSB deficiency and

81 tionized patient treatment for multiple rare lysosomal storage diseases but show limited effectivenes

82 ntile Batten disease) is a neurodegenerative lysosomal storage disease caused by a deficiency in palm

83 Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the

84 beta-mannosidosis is an autosomal recessive, lysosomal storage disease caused by a deficiency of the

85 se) is an autosomal recessive, degenerative, lysosomal storage disease caused by a severe loss of gal

86 , or juvenile Batten disease, is a pediatric lysosomal storage disease caused by autosomal recessive

87 onal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by autosomal-recessive

88 VII, Sly syndrome) is an autosomal recessive lysosomal storage disease caused by beta-glucuronidase (

89 onal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by CLN3 mutations.

90 Galactosialidosis is a human lysosomal storage disease caused by deficiency in the mu

91 Fabry disease is an X-linked lysosomal storage disease caused by deficient activity o

92 Mucopolysaccharidosis VII (MPS VII) is a lysosomal storage disease caused by deficient beta-glucu

93 ccharidosis I Hurler (MPSI-H) is a pediatric lysosomal storage disease caused by genetic deficiencies

94 Globoid cell leukodystrophy (GLD) is a lysosomal storage disease caused by genetic deficiency o

95 Hurler syndrome is the most severe form of a lysosomal storage disease caused by loss of the enzyme a

96 uscinosis is a devastating neurodegenerative lysosomal storage disease caused by mutations in the gen

97 Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the gen

98 Niemann-Pick disease (NPD) is a lysosomal storage disease caused by the loss of acid sph

99 Mucopolysaccharidoses (MPSs) are lysosomal storage diseases caused by a deficit in the en

100 mical features of the mucopolysaccharidoses, lysosomal storage diseases caused by the accumulation of

101 e replacement therapy for animal models with lysosomal storage diseases, cellular and humoral immune

102 -Pick disease, type C1 (NPC1) is a heritable lysosomal storage disease characterized by a progressive

103 ridosis type I-Hurler syndrome (MPS-IH) is a lysosomal storage disease characterized by multisystem m

104 Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic an

105 (MPS IIIB, Sanfilippo syndrome type B) is a lysosomal storage disease characterized by profound inte

106 ML-IV is a human autosomal recessive lysosomal storage disease characterized by psychomotor r

107 opathic cystinosis is an autosomal recessive lysosomal storage disease characterized by renal failure

108 en linked to mucolipidosis type IV (MLIV), a lysosomal storage disease characterized by several neuro

109 to mucolipidosis type IV (MLIV), a recessive lysosomal storage disease characterized by severe neurol

110 sis type IV (MLIV) is an autosomal recessive lysosomal storage disease characterized by severe psycho

111 this enzyme results in beta-mannosidosis, a lysosomal storage disease characterized by the cellular

112 ns in ML1 result in mucolipidosis type IV, a lysosomal storage disease characterized by the intracell

113 Globoid cell leukodystrophy is a lysosomal storage disease characterized by the loss of g

114 Mucolipidosis II and III (ML II; ML III) are lysosomal storage diseases characterized by a deficiency

115 A therapeutic strategy under development for lysosomal storage diseases consists of using pharmacolog

116 Accumulation of glycosphingolipids (GSLs) in lysosomal storage diseases could potentially influence e

117 The lysosomal storage disease cystinosis, caused by cystinos

118 current therapies that have emerged from the lysosomal storage disease field.

119 Therefore, in the absence of PPCA, as in the lysosomal storage disease galactosialidosis, NEU1 self-a

120 ent) therapy and outcomes for such treatable lysosomal storage diseases: Gaucher disease, Fabry disea

121 We found that in a mouse model of the human lysosomal storage disease GM1-gangliosidosis, GM1-gangli

122 Thus, this lysosomal storage disease has parallels to other neurode

123 Over the past 15 years, the lysosomal storage diseases have become paradigms for the

124 hologic features that were consistent with a lysosomal storage disease (ie, clusters of vacuolated my

125 preventing the clinical manifestations of a lysosomal storage disease in a large animal.

126 A1 underlie Gaucher disease, the most common lysosomal storage disease in humans.

127 iciency of arylsulfatase G (ARSG) leads to a lysosomal storage disease in mice resembling biochemical

128 d by the severe neurological consequences of lysosomal storage diseases in children.

129 vely to evaluate experimental strategies for lysosomal storage diseases, including bone marrow transp

130 phenotypes in patient fibroblasts from other lysosomal storage diseases, including NPC2, Batten (cero

131 uffering capacity in cells affected by these lysosomal storage diseases is associated with increased

132 Enzyme replacement therapy for lysosomal storage diseases is currently based on endocyt

133 cts in ganglioside catabolism and a range of lysosomal storage diseases is well documented, this is t

134 Gaucher disease, the most common lysosomal storage disease, is caused by a deficiency of

135 Gaucher disease type 1, a non-neuronopathic lysosomal storage disease, is caused by mutations at the

136 mal chloride, which is implicated in various lysosomal storage diseases, is regulated by the intracel

137 mide in lysosomes and the development of the lysosomal storage disease known as Gaucher's disease.

138 defective in affected children, lead to the lysosomal storage disease known as Sanfilippo syndrome.

139 central nervous system (CNS) deficits due to lysosomal storage disease (LSD mice).

140 Cardiovascular manifestations of lysosomal storage disease (LSD) are a significant health

141 ll leukodystrophy (GLD, Krabbe disease) is a lysosomal storage disease (LSD) caused by a deficiency i

142 sis (INCL) is an inherited neurodegenerative lysosomal storage disease (LSD) caused by a deficiency i

143 Type 1 GD was the first lysosomal storage disease (LSD) for which enzyme therapy

144 is a devastating childhood neurodegenerative lysosomal storage disease (LSD) that has no effective tr

145 Gaucher disease, a prevalent lysosomal storage disease (LSD), is caused by insufficie

146 Lysosomal storage diseases (LSD) are metabolic disorders

147 For most lysosomal storage diseases (LSDs) affecting the CNS, the

148 itive feedback mechanism is common for other lysosomal storage diseases (LSDs) and whether BK channel

149 Lysosomal storage diseases (LSDs) are a class of metabol

150 Lysosomal storage diseases (LSDs) are a family of disord

151 Lysosomal storage diseases (LSDs) are a group of heterog

152 Lysosomal storage diseases (LSDs) are monogenic disorder

153 The presence of four lysosomal storage diseases (LSDs) at increased frequency

154 Lysosomal storage diseases (LSDs) represent a significan

155 Lysosomal storage diseases (LSDs), as a group, are among

156 somal Ca(2+) causes lysosome dysfunction and lysosomal storage diseases (LSDs), but the mechanisms by

157 entified as potential therapeutic agents for lysosomal storage diseases (LSDs), inherited metabolic d

158 mblance to features described in a number of lysosomal storage diseases (LSDs).

159 fficking result in lysosomal dysfunction and lysosomal storage diseases (LSDs).

160 r leptin levels are common to five different lysosomal storage diseases (LSDs): MPSI, MPSIIIB, MPSVII

161 This provides the basis for treating lysosomal storage diseases, many of which affect the CNS

162 Unlike other lysosomal storage diseases, MLIV is not associated with

163 des the protein h-mucolipin-1, result in the lysosomal storage disease Mucolipidosis Type IV.

164 codes the protein mucolipin 1, result in the lysosomal storage disease mucolipidosis Type IV.

165 Mutations in the PT complex cause the lysosomal storage diseases mucolipidosis II and III.

166 ode GlcNAc-1-phosphotransferase give rise to lysosomal storage diseases (mucolipidosis type II and II

167 Mice with the lysosomal storage disease mucopolysaccharidosis (MPS) VI

168 Enzyme replacement therapy (ERT) for the lysosomal storage disease mucopolysaccharidosis I (MPS I

169 . 3.1.6.4) is deficient in patients with the lysosomal storage disease mucopolysaccharidosis IV A (al

170 ive BMT in neonatal mice with or without the lysosomal storage disease mucopolysaccharidosis type VII

171 Deficiency of GUSB causes the lysosomal storage disease mucopolysaccharidosis VII (MPS

172 iency in the activity of human GA leads to a lysosomal storage disease named aspartylglycosaminuria.

173 As with many of the other lysosomal storage diseases, neurodegeneration is a promi

174 iduronidase deficiency (MPS I) are heritable lysosomal storage diseases; neurodegeneration is promine

175 een previously associated with the endosomal/lysosomal storage diseases Niemann-Pick and neuronal cer

176 ge has improved about the pathophysiology of lysosomal storage diseases, novel targets for therapy ha

177 sts and fibroblasts from patients with three lysosomal storage diseases: NPC, mucolipidosis IV, and S

178 Gaucher disease, the most prevalent lysosomal storage disease, occurs in three subtypes, all

179 olipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology that cause

180 -6-P recognition marker results in a serious lysosomal storage disease, one of a growing number of ge

181 lls by nigericin or chloroquine reversed the lysosomal storage disease phenotype.

182 LINCL), a severe and devastating multisystem lysosomal storage disease previously associated with mut

183 m, bleeding tendency and a ceroid-lipofuscin lysosomal storage disease result from defects of multipl

184 The glycosphingolipid (GSL) lysosomal storage diseases result from the inheritance o

185 Most lysosomal storage diseases result in neurodegeneration,

186 Gaucher disease is a lysosomal storage disease resulting from a defect in the

187 so known as Sanfilippo type B syndrome) is a lysosomal storage disease resulting in progressive deter

188 The mucopolysaccharidoses (MPSs) are lysosomal storage diseases resulting from impaired catab

189 mucopolysaccharidoses (MPS) are a family of lysosomal storage diseases resulting in developmental de

190 disorders of childhood and are classified as lysosomal storage diseases since affected cells exhibit

191 Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in

192 ne underlies mucolipidosis type IV (MLIV), a lysosomal storage disease that results in severe develop

193 he relevance of this approach to treat other lysosomal storage diseases that affect brain awaits conf

194 and Sandhoff diseases, are neurodegenerative lysosomal storage diseases that are caused by deficiency

195 (MPS VII; Sly syndrome) is one of a group of lysosomal storage diseases that share many clinical feat

196 type VII (MPS VII)] mice, an animal model of lysosomal storage disease, there was bihemispheric corre

197 s for most neurological disorders--from rare lysosomal storage diseases to major public health concer

198 ility of using ex vivo gene transfer in this lysosomal storage disease, we produced ecotropic retrovi

199 ngliosidosis (GM1) is an autosomal recessive lysosomal storage disease where GLB1 gene mutations resu

200 ive disorder mucolipidosis type IV (MLIV), a lysosomal storage disease with severe motor impairments.

201 may have important implications for ERT for lysosomal storage diseases with CNS involvement.

202 sis type I (MPS I) is one of the most common lysosomal storage diseases with progressive neurological