ライフサイエンスコーパス: Niemann

1 Niemann Pick type C (NP-C) disease is a fatal neurodegen

2 Niemann-Pick C (NPC) disease is a fatal neurodegenerativ

3 Niemann-Pick C (NPC) disease is an autosomal recessive l

4 Niemann-Pick C (NPC) disease is an inherited, progressiv

5 Niemann-Pick C (NPC) disease is due to loss of NPC1 or N

6 Niemann-Pick C disease is a fatal neurodegenerative diso

7 Niemann-Pick C disease is a neurovisceral disorder cause

8 Niemann-Pick C1 (NPC) disease, an autosomal recessive li

9 Niemann-Pick C1 (NPC1) disease is a rare, neurodegenerat

10 Niemann-Pick C1 (NPC1) is a key participant in cellular

11 Niemann-Pick C1 (NPC1) is a lysosomal membrane protein t

12 Niemann-Pick C1 (NPC1) protein is an essential filovirus

13 Niemann-Pick C1 (NPC1), a membrane protein of lysosomes,

14 Niemann-Pick C1 Like 1 (NPC1L1) is a protein localized i

15 Niemann-Pick C1-Like 1 (NPC1L1) is a polytopic transmemb

16 Niemann-Pick C1-like 1 (NPC1L1) is a polytopic transmemb

17 Niemann-Pick C1-like 1 (NPC1L1) is an intestinal cholest

18 Niemann-Pick C1-like 1 (NPC1L1) is required for choleste

19 Niemann-Pick C1-like protein (NPC1L1) mediates the absor

20 Niemann-Pick disease (NPD) is a lysosomal storage diseas

21 Niemann-Pick disease (NPD) is caused by the loss of acid

22 Niemann-Pick disease is caused by a genetic deficiency i

23 Niemann-Pick disease Type C (NP-C) is a progressive neur

24 Niemann-Pick disease type C (NPC) and Wolman disease are

25 Niemann-Pick disease type C (NPC) is a fatal, autosomal

26 Niemann-Pick disease type C (NPC) is a genetic disorder

27 Niemann-Pick disease type C (NPC) is a lysosomal storage

28 Niemann-Pick disease type C (NPC) is a neurodegenerative

29 Niemann-Pick disease type C (NPC) is a severe neurovisce

30 Niemann-Pick disease type C (NPC) is associated with mut

31 Niemann-Pick disease type C (NPC) is caused by defects i

32 Niemann-Pick disease type C (NPC) is caused by mutations

33 Niemann-Pick disease type C (NPC) is characterized by ly

34 Niemann-Pick disease type C2 (NP-C2) is a fatal heredita

35 Niemann-Pick disease, type C1 (NPC1) is a heritable lyso

36 Niemann-Pick disease, type C1 (NPC1) is a lysosomal stor

37 Niemann-Pick disease, type C1 (NPC1), which arises from

38 Niemann-Pick type A disease is a lysosomal storage disor

39 Niemann-Pick type C (NP-C) disease is a fatal lysosomal

40 Niemann-Pick type C (NP-C) disease is a fatal, autosomal

41 Niemann-Pick type C (NPC) 1 protein plays important role

42 Niemann-Pick type C (NPC) disease develops as a result o

43 Niemann-Pick type C (NPC) disease is a cholesterol lipid

44 Niemann-Pick Type C (NPC) disease is a devastating devel

45 Niemann-Pick type C (NPC) disease is a fatal autosomal-r

46 Niemann-Pick type C (NPC) disease is a fatal neurodegene

47 Niemann-Pick type C (NPC) disease is a lysosomal disorde

48 Niemann-Pick type C (NPC) disease is a lysosomal storage

49 Niemann-Pick type C (NPC) disease is an autosomal recess

50 Niemann-Pick Type C (NPC) disease is an autosomal recess

51 Niemann-Pick type C (NPC) disease is an autosomal recess

52 Niemann-Pick type C (NPC) disease is caused by mutations

53 Niemann-Pick type C (NPC) disease is characterized by im

54 Niemann-Pick type C (NPC) disease is predominantly cause

55 Niemann-Pick type C (NPC) is a disease that affects intr

56 Niemann-Pick type C (NPC) is a fatal autosomal recessive

57 Niemann-Pick type C (NPC) is a neurodegenerative lysosom

58 Niemann-Pick type C (NPC) is an autosomal recessive lipi

59 Niemann-Pick Type C (NPC) is an inherited neurodegenerat

60 Niemann-Pick type C disease (NP-C) is a progressive lyso

61 Niemann-Pick type C disease (NPC) is a childhood onset n

62 Niemann-Pick type C disease (NPC) is a lysosomal storage

63 Niemann-Pick Type C disease (NPC) is a rare metabolic di

64 Niemann-Pick type C disease (NPC) is an inherited neurod

65 Niemann-Pick type C disease (NPC) is characterized by ne

66 Niemann-Pick type C disease is a fatal lysosomal storage

67 Niemann-Pick type C disease is a lysosomal storage disor

68 Niemann-Pick type C disease is an autosomal recessive di

69 Niemann-Pick type C disease is characterized by the accu

70 Niemann-Pick type C disease is largely attributable to a

71 Niemann-Pick type C1 (NPC1) disease is a fatal neurodege

72 Niemann-Pick type C1 (NPC1) disease is a neurodegenerati

73 Niemann-Pick type C1 (NPC1) disease is a rare autosomal

74 Niemann-Pick Type C1 (NPC1) disease is a rare neurovisce

75 Niemann-Pick type C1 (NPC1) disease is a rare neurovisce

76 Niemann-Pick type C1 (NPC1) disease results from a defec

77 Niemann-Pick type C1 (NPC1) is a late endosomal transmem

78 Niemann-Pick type C1 (NPC1) is a late endosomal/lysosoma

79 Niemann-Pick type C1 (NPC1) is shown to be an important

80 Niemann-Pick type C1 (NPC1) protein is needed for cellul

81 Niemann-Pick type C1 disease (NPC1) is a fatal genetic d

82 Niemann-Pick Type C2 (NPC2) protein has been recently id

83 Niemann-Pick, type C (NP-C) disease is an autosomal rece

84 isfying the hypothesis' first prediction, 2) Niemann-Pick C1 patients accumulate aneuploid fibroblast

85 results in the lipid storage disease type A Niemann-Pick disease (NPD-A), mimicked in mice by interr

86 ASM knock-out (ASMKO) mouse model of Type A Niemann-Pick disease.

87 nt in alpha-1-antitrypsin deficiency (AATD), Niemann-Pick type C1 disease (NPC1), Alzheimer's disease

88 mmunoglobulin and mucin domain 1 (TIM-1) and Niemann-Pick C1 (NPC1) have been identified as attachmen

89 ntestinal cholesterol and fat absorption and Niemann-Pick C1 like 1 expression, and increased macroph

90 riggered by the host factors cathepsin B and Niemann-Pick C1.

91 These include cathepsins and Niemann-Pick disease type A, B, and C genes.

92 ve disorders such as Alzheimer's disease and Niemann-Pick type C disease.

93 mucin domain (TIM) proteins, integrins, and Niemann-Pick C1 (NPC1) have been reported to promote ent

94 e the findings on brain lipid metabolism and Niemann-Pick type C disease neuropathology, so as to gen

95 we show that Niemann-Pick type C1 (NPC1) and Niemann-Pick type C2 (NPC2) mutants have increased cellu

96 disease, amyotrophic lateral sclerosis, and Niemann-Pick Type C (NPC).

97 ase (AD), amyotrophic lateral sclerosis, and Niemann-Pick type C disease (NPC).

98 ATPases, ABC transporters, scramblases, and Niemann-Pick type C (NPC) family proteins.

99 plasma membranes isolated from wild-type and Niemann-Pick disease type C1 (NPC1) deficient cells.

100 ples are lysosomal storage disorders such as Niemann-Pick type C (NPC) disease, where defects in the

101 SMase, since neither genetic loss of ASMase (Niemann-Pick fibroblasts) nor knockdown of ASMase using

102 Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorde

103 Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorde

104 hydrolase that is deficient in types A and B Niemann-Pick disease (NPD).

105 ncy of ASM activity results in Types A and B Niemann-Pick disease (NPD).

106 f the inherited human disorder types A and B Niemann-Pick disease.

107 worldwide sample of 394 patients with type B Niemann-Pick disease (NPD).

108 -65 years; mean age, 23.3 years) with type B Niemann-Pick disease was evaluated with imaging and pulm

109 In Type B Niemann-Pick disease, progressive pulmonary infiltration

110 h pulmonary function in patients with type B Niemann-Pick disease.

111 ity between Juno and the cholesterol-binding Niemann-Pick disease type C1 protein (NPC1) suggests how

112 lysosomal proteins, polytopic membrane-bound Niemann-Pick C1 (NPC1) and soluble Niemann-Pick C2 (NPC2

113 osomes requires two proteins, membrane-bound Niemann-Pick C1 (NPC1) and soluble NPC2.

114 essful treatment of pulmonary involvement by Niemann-Pick disease has been documented.

115 t for patients with pulmonary involvement by Niemann-Pick Type B disease.

116 s sterol uptake and secretion is mediated by Niemann-Pick C1-like 1 (NPC1L1) and ATP-binding cassette

117 ximal region of the intestine is mediated by Niemann-Pick C1-like protein (NPC1L1) and is sensitive t

118 NPC-1 gene mutations cause Niemann-Pick type C (NPC), a neurodegenerative storage d

119 Here we show that the cellular Niemann-Pick C1-like 1 (NPC1L1) cholesterol uptake recep

120 sine transport deficiency in patient-derived Niemann-Pick disease type C fibroblasts by fluorescence

121 The rare neurodegenerative disease Niemann-Pick Type C (NPC) results from mutations in eith

122 The neurodegenerative disease Niemann-Pick Type C2 (NPC2) results from mutations in th

123 ssociated disorders such as Tangier disease, Niemann-Pick disease type C and atherosclerosis.

124 ith the endosomal/lysosomal storage diseases Niemann-Pick and neuronal ceroid lipofuscinosis and have

125 The inherited disorder Niemann-Pick type C (NPC), in which abnormal LDL-cholest

126 Murine models of the monogenetic disorder Niemann-Pick Type C present aggressive forms of cerebral

127 The fatal neurodegenerative disorder Niemann-Pick type C (NPC) is caused in most cases by mut

128 nvolvement in the lysosomal storage disorder Niemann-Pick disease (NPD).

129 The cholesterol storage disorder Niemann-Pick type C (NPC) disease is caused by defects i

130 questions in the lysosomal storage disorder Niemann-Pick type C (NPC), where a defect in intracellul

131 e autosomal recessive lipid storage disorder Niemann-Pick type C1.

132 the genetic cholesterol trafficking disorder Niemann-Pick type C disease further corroborates the int

133 cted by different lysosome storage disorders-Niemann-Pick type C, mucolipidosis type IV, and Sandhoff

134 ition and damage occur simultaneously during Niemann-Pick C disease progression.

135 of these diseases range from juvenile [i.e., Niemann-Pick type C (NPC) and Charcot-Marie-Tooth (CMT)

136 f mucolipidosis type IV (ML4) (TRPML1-F408), Niemann-Pick type A (NPA) and Fabry disease.

137 binding domain for the critical host factor Niemann-Pick C1.

138 uscinosis, neuronal 2, CLN2), Fabry, Farber, Niemann-Pick disease type A, Sanfilippo type B (mucopoly

139 iction for phenylketonuria and miglustat for Niemann-Pick disease type C.

140 e existing assisted reproduction options for Niemann-Pick disease carrier couples.

141 and abnormal lysosomal storage in cells from Niemann-Pick C1 patients.

142 -deficient cells, including human cells from Niemann-Pick type A (NPA) patients, undergo lysosomal ex

143 accumulates to massive levels in cells from Niemann-Pick type C (NP-C) patients and in cells treated

144 We also used hippocampal cultures from Niemann-Pick type C1-deficient mice defective in intrace

145 ndosomes and lysosomes of cells derived from Niemann-Pick disease type C (NPC) patients and demonstra

146 sociation inhibitor-mediated extraction from Niemann-Pick type C membranes.

147 n to using primary fibroblasts isolated from Niemann-Pick type C patients, RNA interference was utili

148 s not detectable in MS1418 lymphoblasts from Niemann-Pick type D patients who have an inherited defic

149 Consistent with this idea, macrophages from Niemann-Pick C1 mice that have an inability to exit chol

150 s like those lacking caveolins or those from Niemann-Pick disease patients.

151 Niemann-Pick C phenotype, and (3) inhibit GP-Niemann-Pick C1 (NPC1) protein interaction.

152 unction in cellular cholesterol homeostasis (Niemann-Pick C1) and Hedgehog signal transduction (Patch

153 uding primary fibroblasts derived from human Niemann-Pick type C1 disease patients, are resistant to

154 alled ASMKO mice), a faithful model of human Niemann-Pick type A (NP-A) disease, and into 10 wild-typ

155 nclude limited, first time analysis of human Niemann-Pick Type C liver and cerebellum.

156 The human Niemann-Pick C1 (NPC1) gene has been found to be associa

157 Mutations in either of the two human Niemann-Pick type C (NPC) genes, NPC1 and NPC2, cause a

158 The newly identified Niemann-Pick C1-like 1 (NPC1L1) protein is also expresse

159 We previously identified Niemann-Pick type C2 (NPC2) protein as a negative regula

160 g a genetic approach, we recently identified Niemann-Pick C1-Like 1 (NPC1L1) as a critical mediator o

161 In Niemann-Pick type C (NPC) disease, a mutation in NPC1 pr

162 orage, including cholesterol accumulation in Niemann-Pick disease type C (NPC) cells.

163 cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.

164 es the endosomal cholesterol accumulation in Niemann-Pick type C1 cells but does not revert the reduc

165 erved that EBOV entry occurs upon arrival in Niemann-Pick C1 (NPC1)-positive endolysosomes (LE/Lys),

166 pid defects and neuropathological changes in Niemann-Pick type C disease gene-1-deficient mice has sh

167 ly accumulates in an internal compartment in Niemann-Pick type C1 (NPC1) cells.

168 ain pathology from visceral complications in Niemann-Pick type C disease has implications for its tre

169 Sphingosine is a major storage compound in Niemann-Pick type C disease (NP-C), although the patholo

170 is the ultimate cause of premature death in Niemann-Pick type C disease.

171 n 90% of cases of NPC are due to a defect in Niemann-Pick C1 (NPC1), a late endosomal, integral membr

172 ant Chinese hamster ovary cells defective in Niemann-Pick type C1 (NPC1) using cyclodextrin (CD) to m

173 eceptor) and NPC-1 (the protein defective in Niemann-Pick type C1 disease).

174 Defects in Niemann-Pick, Type C-1 protein (NPC1) cause cholesterol,

175 c cargo (acid sphingomyelinase, deficient in Niemann-Pick disease A-B) was enhanced to all affected o

176 e the contribution of the hepatic disease in Niemann-Pick C disease progression and to evaluate the d

177 CD exerts significant beneficial effects in Niemann-Pick type C disease, which shares neuropathologi

178 genous Rab9 levels were elevated 1.8-fold in Niemann-Pick type C cells relative to wild type cells, a

179 or gene therapy of the CNS manifestations in Niemann-Pick type A disease.

180 e mechanisms underlying neurodegeneration in Niemann-Pick type C (NPC) disease, a lysosomal storage d

181 phospholipid efflux to apoA-I was normal in Niemann-Pick C1 macrophages, as was cholesterol efflux f

182 nase secretion, but this was not observed in Niemann-Pick disease cells.

183 olipoprotein E genotype, are also present in Niemann-Pick type C, a disease characterized by impairme

184 of wild-type Rab7 or Rab9 (but not Rab11) in Niemann-Pick type C (NP-C) lipid storage disease fibrobl

185 investigated glycosphingolipid recycling in Niemann-Pick type A and C lipid storage disease fibrobla

186 ynthetic agonist, is dramatically reduced in Niemann-Pick (NP) disease cells.

187 ted that non-synonymous sequence variants in Niemann-Pick type C1-like 1 (NPC1L1), an intestinal chol

188 the sphingolipid storage diseases, includes Niemann-Pick disease type C (NPC), caused predominantly

189 ty of neurodegenerative disorders, including Niemann-Pick type C (NPC) disease, which is characterize

190 GP1 binds to cellular receptors, including Niemann-Pick C1 (NPC1) protein, and GP2 is responsible f

191 omol/L) at a late stage of entry, (2) induce Niemann-Pick C phenotype, and (3) inhibit GP-Niemann-Pic

192 In addition, PPARdelta induces Niemann-Pick C1-like L1 (NPC1L1), which imports choleste

193 One example is Niemann Pick type C1, caused by defects in cholesterol t

194 Among these tauopathies is Niemann-Pick type C disease (NPC), a lysosomal storage d

195 Likewise, Niemann-Pick type C fibroblasts also displayed normal ac

196 ated this metric in a mouse model of the LSD Niemann-Pick type C1 disease (NPC1) and in a prospective

197 ammation in the lipid storage disorder (LSD) Niemann-Pick C (NPC), we deleted the macrophage inflamma

198 ation of npc1b, an ortholog of the mammalian Niemann-Pick C1-like 1 gene NPC1L1, which is essential f

199 rage diseases (LSDs): MPSI, MPSIIIB, MPSVII, Niemann-Pick type A/B, and infantile neuronal ceroid lip

200 lipase, which hydrolyzes C esters, and NPC1 (Niemann-Pick type C1).

201 LDL and was coimmunoprecipitated with NPC1 (Niemann-Pick disease type C1), an endocytic regulator of

202 so increased cell surface-associated NPC1L1 (Niemann-Pick C1-like 1) transporters but did not alter t

203 e transporter G5) and Abcg8, but not Npc1l1 (Niemann-Pick C1 like 1), were significantly increased by

204 In addition, based on the loss of Npc2 (Niemann-Pick type C 2) protein expression in the brain,

205 s in the human NPC1 gene cause most cases of Niemann-Pick type C (NP-C) disease, a fatal autosomal re

206 Deficiency in NPC2 is the cause of Niemann-Pick type C2 disease, a fatal neurovisceral diso

207 nvolvement is a recognized characteristic of Niemann-Pick type C disease, the pathological features a

208 s substantially reduced in cells depleted of Niemann-Pick disease type C1, a lysosomal protein requir

209 that the central nervous system disorder of Niemann-Pick type C disease is secondary to lipid accumu

210 lar studies indicated that the expression of Niemann Pick C1 Like 1, Acyl-CoA:Cholesterol acyltransfe

211 Moreover, the intestinal expression of Niemann-Pick C1-like 1 protein decreased when circulatin

212 ic histology and ultrastructural features of Niemann-Pick disease, with confirmatory findings in bioc

213 rs have brought the neurological features of Niemann-Pick type C disease into focus.

214 One form of Niemann-Pick disease is caused by a deficiency in the en

215 id sphingomyelinase (ASM)-deficient forms of Niemann-Pick disease (i.e. Types A and B NPD).

216 The Type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders d

217 The type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders d

218 ctivity results in the Type A and B forms of Niemann-Pick disease (NPD).

219 op a hypothesis of the potential function of Niemann-Pick C1-like 1 protein and outlines questions th

220 mal/lysosomal compartment is the hallmark of Niemann-Pick type C (NPC) disease.

221 Recent identification of Niemann-Pick C1 Like-1 (NPC1L1) as the molecular target

222 K receptors with proglumide or inhibition of Niemann-Pick C1 Like 1 transporter with ezetimibe reduce

223 ol trafficking as well as siRNA knockdown of Niemann-Pick disease type C (NPC) 1 and NPC2 also cause

224 We have previously observed that knockout of Niemann-Pick C1-Like 1 (NPC1L1), a cholesterol transport

225 CG5 and ABCG8, and in hepatic mRNA levels of Niemann-Pick C1-Like 1 (NPC1L1), a gene that is required

226 tential function and subcellular location of Niemann-Pick C1-like 1 protein has complicated interpret

227 Arf6 KO MEFs results from mistrafficking of Niemann-Pick type C protein NPC2, a cargo of the cation-

228 This paper proposes a model of Niemann-Pick C1-like 1 protein function based on availab

229 The BALB/c mouse model of Niemann-Pick type C (NPC) disease exhibits neuropatholog

230 precursor protein (APP) in a mouse model of Niemann-Pick type C (NPC) disease.

231 In a cellular model of Niemann-Pick type C disease, PhDY-Chol reflects the lyso

232 scue Purkinje cell death in a mouse model of Niemann-Pick type C disease.

233 has therapeutic effects in animal models of Niemann-Pick disease type C and several other neurodegen

234 reates a novel mouse model (Npc1(nmf164)) of Niemann-Pick type C1 (NPC) disease: a single nucleotide

235 ignificantly reduced in the target organs of Niemann-Pick type C mice where the intracellular cholest

236 The data might explain the pathogenesis of Niemann-Pick type C1 disease.

237 with the classic juvenile-onset phenotype of Niemann-Pick type C disease.

238 NPC1L1, a recently identified relative of Niemann-Pick C1, was characterized to determine its subc

239 g Phase 2b/3 clinical trial for treatment of Niemann Pick Type C-1 (NPC1), a fatal neurodegenerative

240 is likely sequestered in an inactive form on Niemann-Pick type C membranes, as cation-dependent manno

241 tes directly to the sequestration of Rab9 on Niemann-Pick type C cell membranes, which in turn, disru

242 -alkylidenepyrrolinones, which are potential Niemann-Pick type C (NPC) disease therapeutics, is descr

243 cooperation of the integral membrane protein Niemann-Pick C1 (NPC1) and a soluble protein, Niemann-Pi

244 he late endosomal/lysosomal membrane protein Niemann-Pick C1 (NPC1) are known to cause a generalized

245 inhibitor is the endosomal membrane protein Niemann-Pick C1 (NPC1).

246 lated by the late endosomal membrane protein Niemann-Pick disease type C protein 1 (NPC1) arising dur

247 r the putative cholesterol transport protein Niemann-Pick C1-like 1 (NPC1L1) in proximal intestinal m

248 do/lysosomal cholesterol transporter protein Niemann-Pick C1 (NPC1).

249 iemann-Pick C1 (NPC1) and a soluble protein, Niemann-Pick C2 (NPC2).

250 tion of the cholesterol trafficking protein, Niemann-Pick C1 (NPC1).

251 loading machinery genes pro-saposin (Psap), Niemann Pick type C2 (Npc2), alpha-galactosidase (Gla),

252 rus glycoprotein, GP, and its entry receptor Niemann-Pick C1 (NPC1) provides an attractive target for

253 sosomes harboring its glycoprotein receptor, Niemann-Pick C1.

254 med and bound to its intracellular receptor, Niemann-Pick C1.

255 n the enterocyte plasma membrane and reduced Niemann-Pick C1-like 1 (NPC1L1), CD36, ATP-binding casse

256 lipid sorting, regulated by the Ptc-related Niemann-Pick C1 (NPC1) protein.

257 In addition, this function may require Niemann-Pick C1-like 1 protein to move between different

258 show that activation of this system rescues Niemann-Pick type C1 deficiency that causes a disorder c

259 ane-bound Niemann-Pick C1 (NPC1) and soluble Niemann-Pick C2 (NPC2).

260 Cholesterol is first bound by soluble Niemann-Pick C2 (NPC2) protein, which hands off the chol

261 , three aSMase mutants containing C-terminal Niemann-Pick mutations (R600H, R600P, DeltaR608) exhibit

262 Recent reports suggest, however, that Niemann-Pick C1-like 1 protein plays a key role in modul

263 We tested the hypothesis that Niemann-Pick type C 1 (NPC1) protein aids the transfer o

264 We showed previously that Niemann-Pick C1 (NPC1), a lysosomal cholesterol transpor

265 We show that Niemann-Pick C1 Like 1(NPC1L1) protein plays a critical

266 In this study we show that Niemann-Pick type C1 (NPC1) and Niemann-Pick type C2 (NP

267 The Niemann-Pick C proteins have slowly emerged as regulator

268 The Niemann-Pick C1 (NPC1) protein is a key participant in i

269 The Niemann-Pick C1 (NPC1) protein is predicted to be a poly

270 The Niemann-Pick type C1 (NPC1) disease is a neurodegenerati

271 The Niemann-Pick type C1 (NPC1) protein is a key participant

272 The Niemann-Pick type C2 (NPC2) protein is a small, soluble,

273 The Niemann-Pick, Type C1 protein (NPC1) is required for the

274 Conversely, the Niemann-Pick C1 (NPC1) protein, which regulates choleste

275 hydrolyzed cholesterol (LDL-CHOL) enters the Niemann-Pick type C1 (NPC1)-containing endosomal compart

276 edge of its close relative and homologue the Niemann-Pick C1 protein, whose precise function, albeit

277 Mutations in the Niemann-Pick disease genes cause lysosomal cholesterol a

278 People homozygous for mutations in the Niemann-Pick type C1 (NPC1) gene have physiological defe

279 rotein cholesterol (LDL-C) by inhibiting the Niemann-Pick C1-Like 1 (NPC1L1) receptor with ezetimibe,

280 r; and Joe Goldstein, on the function of the Niemann-Pick C (NPC)-linked gene products, NPC1 and NPC2

281 holesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein.

282 erol transport is largely independent of the Niemann-Pick type C proteins, which play important roles

283 wide association study has revealed that the Niemann-Pick C1 (NPC1) gene is associated with early-ons

284 omal or lysosomal proteins revealed that the Niemann-Pick type C (NPC) proteins, which are involved i

285 ched (Ptc), has an extensive homology to the Niemann-Pick-C 1 (NPC1) protein.

286 ing intracellular cholesterol transport (the Niemann-Pick C1 [Npc1] gene) were crossed with apolipopr

287 In the past 2 years the Niemann-Pick C1-like 1 protein has rapidly emerged as a

288 in the genes encoding these proteins lead to Niemann-Pick disease type C (NPC).

289 SM deficiency (ASMD) and have been linked to Niemann-Pick disease types A and B.

290 It also raises new questions with respect to Niemann-Pick C1-like 1 protein function and discusses po

291 d, and that of the sterol influx transporter Niemann-Pick C1-like 1 decreased.

292 e use of a deletion of the lipid transporter Niemann-Pick type C1 (NPC1).

293 ly targets an intestinal sterol transporter (Niemann-Pick C1-like 1) is the CAI, ezetimibe.

294 hways with respect to HIV-1 biogenesis using Niemann-Pick type C-1 (NPC1)-deficient (NPCD) cells, whe

295 nt study, these results were confirmed using Niemann-Pick syndrome type C cells, which are deficient

296 lly expressed transcript in wild-type versus Niemann-Pick type C1 deficient macrophages exposed to ac

297 ation is dependent on cholesterol uptake via Niemann-Pick C1-like 1 and inflammasome activation invol

298 alities similar to mutations associated with Niemann-Pick type C (NPC) disease.

299 We describe the case of a patient with Niemann-Pick Type B disease who presented with extensive

300 at is mutated in a majority of patients with Niemann-Pick C neurodegenerative disease.