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

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

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

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

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

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

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

7 l ceroid lipofuscinosis, a neurodegenerative lysosomal storage disease.

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

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

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

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

12 in mutations cause cystinosis, a devastating lysosomal storage disease.

13 lin causes neuronal ceroid lipofuscinosis, a lysosomal storage disease.

14 mucolipidosis (MLIV), an autosomal recessive lysosomal storage disease.

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

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

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

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

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

20 for nephropathic cystinosis and other renal lysosomal storage diseases.

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

22 gous mutant enzymes associated with distinct lysosomal storage diseases.

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

24 nsient immunosuppression may enhance ERT for lysosomal storage diseases.

25 vastating, irreversible complications of the lysosomal storage diseases.

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

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

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

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

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

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

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

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

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

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

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

37 the accumulation of undegraded substrates in lysosomal storage diseases.

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

39 ndosome compartment resembling those seen in lysosomal storage diseases.

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

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

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

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

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

45 ment of similar treatments for other related lysosomal storage diseases.

46 ome of macrophages in a manner that mimicked lysosomal storage diseases.

47 es (NCLs) are a group of autosomal recessive lysosomal storage diseases.

48 dified messenger RNA (modRNA) treatments for lysosomal storage diseases.

49 facilitate the development of therapies for lysosomal storage diseases.

50 geting PFKFB3 could alleviate this and other lysosomal storage diseases.

51 containing membrane whorls characteristic of lysosomal storage diseases.

52 y for the prevalent mitochondrial defects in lysosomal storage diseases.

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

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

55 cathepsins that manifests hallmarks of human lysosomal storage diseases.

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

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

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

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

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

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

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

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

64 2+) homoeostasis are common features in many lysosomal storage diseases.

65 ct genetic deficiencies in the brain such as lysosomal storage diseases(1-3).

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

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

68 As a lysosomal storage disease, all 13 of NCL's causative gen

69 evaluated in the cat homologue of the human lysosomal storage disease alpha-mannosidosis, which has

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

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

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

73 and its mutation can lead to osteopetrosis, lysosomal storage disease and neurological disorders.

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

75 atients with nephropathic cystinosis, a rare lysosomal storage disease and the main cause of heredita

76 some dysfunction is a shared feature of rare lysosomal storage diseases and common age-related neurod

77 eveloped that may provide treatment for rare lysosomal storage diseases and common neurodegenerative

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

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

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

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

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

83 rinciple evidence of ENS degeneration in two lysosomal storage diseases and suggest that gene therapy

84 ysfunction linked to neurological disorders, lysosomal storage diseases, and cancer.

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

86 r with detrimental effects in the brain of a lysosomal storage disease animal model.

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

88 Lysosomal storage diseases are a heterogeneous group of

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

90 Lysosomal storage diseases are characterized by deficien

91 Lysosomal storage diseases are devastating illnesses, in

92 Lysosomal storage diseases are good candidates for centr

93 Patients with early-onset lysosomal storage diseases are ideal candidates for pren

94 Lysosomal storage diseases are inborn errors of metaboli

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

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

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

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

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

100 Observations of lysosomal storage disease, as well as neurodegenerative

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

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

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

104 ignificant in the treatment of patients with lysosomal storage diseases because it functions in the b

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

106 al function and homeostasis are pervasive in lysosomal storage diseases, but the underlying mechanism

107 imer's disease, Parkinson's disease and rare lysosomal storage diseases, but their contributions to t

108 tant identified in a patient with late-onset lysosomal storage disease, can explain loss-of-function

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

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

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

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

113 Fabry disease is an X-linked lysosomal storage disease caused by alpha-galactosidase

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

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

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

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

118 B) is a rare and devastating childhood-onset lysosomal storage disease caused by complete loss of fun

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

120 Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-

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

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

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

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

125 scued the mouse model of Sandhoff disease, a lysosomal storage disease caused by hexosaminidase B def

126 Fabry disease is an X-linked lysosomal storage disease caused by loss of alpha galact

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

128 ucosaminuria (AGU) is an autosomal recessive lysosomal storage disease caused by loss of the enzyme a

129 s an autosomal recessive, neurodegenerative, lysosomal storage disease caused by mutations in CLN3, w

130 id lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease caused by mutations in the fac

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

132 pe IIIB (MPS IIIB) is an autosomal recessive lysosomal storage disease caused by mutations in the gen

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

134 nimal models of Niemann-Pick Type C (NPC), a lysosomal storage disease caused by mutations in the Npc

135 CLN7 is a lysosomal storage disease caused by pathogenic variants

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

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

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

139 fibroblasts from patients with cystinosis, a lysosomal-storage disease caused by inactivation of the

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

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

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

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

144 ) cause mucolipidosis type IV (MLIV), a rare lysosomal storage disease characterized by neurological

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

146 ly mucopolysaccharidosis IIIC, a devastating lysosomal storage disease characterized by progressive n

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

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

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

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

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

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

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

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

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

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

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

158 The lysosomal storage disease cystinosis, caused by cystinos

159 mal cystine transporter cystinosin cause the lysosomal storage disease cystinosis.

160 inosin-cause the rare, autosomal, recessive, lysosomal-storage disease cystinosis.

161 tely open a promising treatment paradigm for lysosomal storage diseases extending beyond the central

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

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

164 e beta-glucocerebrosidase (GCase) causes the lysosomal storage disease Gaucher disease (GD) and has e

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

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

167 the accumulation of undegradable material in lysosomal storage diseases (GM1 and GM2 gangliosidosis;

168 and clinical onset of the neurodegenerative lysosomal storage disease, GM1 gangliosidosis.

169 the progressive and fatal neurodegenerative lysosomal storage disease, GM1 gangliosidosis.

170 the progressive and fatal neurodegenerative lysosomal storage disease, GM1 gangliosidosis.

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

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

173 ule catabolism are known to cause a range of lysosomal storage diseases; however, it is unclear wheth

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

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

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

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

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

179 resented with clinical signs consistent with lysosomal storage disease including corneal opacities, m

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

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

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

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

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

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

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

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

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

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

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

191 idosis type I (MPS-IH, Hurler syndrome) is a lysosomal storage disease (LSD) affecting multiple organ

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

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

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

195 Krabbe disease (KD) is a lysosomal storage disease (LSD) caused by mutations in t

196 nn Pick Type-C disease (NPC) is an inherited lysosomal storage disease (LSD) caused by pathogenic var

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

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

199 (rAAV) gene therapy vectors for treatment of lysosomal storage disease (LSD), a broad category of neu

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

201 Lysosomal storage diseases (LSD) are metabolic disorders

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

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

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

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

206 Lysosomal storage diseases (LSDs) are a group of 70 mono

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

208 Lysosomal storage diseases (LSDs) are monogenic disorder

209 Lysosomal storage diseases (LSDs) are multisystem inheri

210 Lysosomal storage diseases (LSDs) are typically caused b

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

212 Lysosomal storage diseases (LSDs) comprise ~50 monogenic

213 Lysosomal storage diseases (LSDs) represent a group of m

214 Lysosomal storage diseases (LSDs) represent a significan

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

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

217 gagement in two animal models of neuropathic lysosomal storage diseases (LSDs), Gaucher's and Krabbe'

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

219 d in a group of metabolic disorders known as lysosomal storage diseases (LSDs), our data established

220 ark of many degenerative diseases, including lysosomal storage diseases (LSDs), which are caused by l

221 ve technology for treating a large family of lysosomal storage diseases (LSDs).

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

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

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

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

226 ficiency of arylsulfatase A (ASA) causes the lysosomal storage disease metachromatic leukodystrophy (

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

228 In neurodegenerative lysosomal storage disease models, P-type activation of T

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

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

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

232 e GNPT subunits, GNPTAB and GNPTG, cause the lysosomal storage diseases mucolipidosis types II and II

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

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

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

236 . 3.1.6.4) is deficient in patients with the lysosomal storage disease mucopolysaccharidosis IV A (al

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

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

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

240 missorting of lysosomal enzymes resulting in lysosomal storage diseases, namely mucolipidosis type II

241 The rare lysosomal storage disease nephropathic cystinosis presen

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

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

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

245 ses mitochondrial biogenesis and function in lysosomal storage diseases Niemann-Pick type C (NPC) and

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

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

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

249 sease is a fatal inherited neurodegenerative lysosomal storage disease of early childhood, caused by

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

251 -6-P recognition marker results in a serious lysosomal storage disease, one of a growing number of ge

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

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

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

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

256 Most lysosomal storage diseases result in neurodegeneration,

257 Lysosomal storage diseases result in various development

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

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

260 Fabry disease (FD) is an X-linked lysosomal storage disease resulting in tissue accumulati

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

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

263 NEU1 is deficient in the neurodegenerative lysosomal storage disease sialidosis, and its targeting

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

265 Cystinosis is a lysosomal storage disease that is characterized by the a

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

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

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

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

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

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

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

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

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

275 ML1 is associated with neurodegeneration and lysosomal storage disease, while temporary inhibition of

276 B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes.

277 Fabry disease is a lysosomal storage disease with a variety of cardiac mani

278 B (Sanfilippo syndrome B; OMIM 252920), is a lysosomal storage disease with progressive neurological

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

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

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