ライフサイエンスコーパス: GSD

1 GSD function in terms of GM3-dependent adhesion and sign

2 GSD-1a and GSD-1b, the two major subgroups, have been co

3 GSD-Ib patients also have defects in the neutrophil resp

4 Glycogen storage disease type 1 (GSD-1) is a group of genetic disorders caused by a defic

5 Glycogen-storage disease type 1 (GSD-1), also known as "von Gierke disease," is caused by

6 d(-1) (RTD-model) and 0.03 +/- 0.03 L d(-1) (GSD-model) relative to experimentally determined Rs.

7 stinct Chilean ethnic groups: Hispanics (100 GSD, 100 controls), and Amerindians (20 GSD, 20 controls

8 etric Standard Deviation (GSD):2.0] and 146 (GSD:1.9) mug/m(3), respectively, which were similar to t

9 Glycogen storage disease type 1a (GSD-1a) is caused by a deficiency in microsomal glucose-

10 Glycogen storage disease type 1a (GSD-1a), characterized by hypoglycemia, liver and kidney

11 Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by muta

12 Glycogen storage disease type 1b (GSD-1b) is proposed to be caused by a deficiency in micr

13 found in any of the 31 GSD-IIIa patients, 2 GSD-IIId patients, nor 28 unrelated normal controls.

14 (100 GSD, 100 controls), and Amerindians (20 GSD, 20 controls); additionally an 8-year follow-up of 7

15 wo mutations were not found in any of the 31 GSD-IIIa patients, 2 GSD-IIId patients, nor 28 unrelated

16 sufficient destabilization to account for a GSD mechanism.

17 ion was also found in 8 of the 10 additional GSD-IIIb patients.

18 GSD Ia HCA (three cases) with one additional GSD I patient showing submicroscopic 6q14.1 deletion.

19 veloped ab initio using a genetic algorithm (GSD-model) to shortlist 24 descriptors covering constitu

20 Finally, functional analyses among GSD loci were mapped back to skin features, providing in

21 ciencies in G6Pase and G6PT cause GSD-1a and GSD-1b, respectively.

22 GSD-1a and GSD-1b, the two major subgroups, have been confirmed at

23 P and a P(i) transporter and that GSD-Ib and GSD-Ic are deficient in the same G6PT gene.

24 their effects on GM3 expression pattern and GSD function, in comparison with effects of lyso-GM3 and

25 -GM3 and other lyso compounds is the same as GSD of original B16 cells.

26 levels were significantly lower even before GSD was detectable by ultrasound.

27 The association between GSD and type 2 diabetes was strongest among participants

28 suggest an interesting relationship between GSD Ia HCA and steps to HCC transformation.

29 yte colony stimulating factor levels in both GSD-Ib mice and humans.

30 ontributes to residual glucose production by GSD Ia hepatocytes.

31 Deficiencies in G6Pase and G6PT cause GSD-1a and GSD-1b, respectively.

32 e sterol levels were analyzed in cholesterol GSD and controls.

33 ethnic groups at higher risk of cholesterol GSD.

34 Clinically, GSD-Ib patients manifest disturbed glucose homeostasis a

35 In addition to G6Pase deficiency, GSD-1b patients suffer neutropenia, neutrophil dysfuncti

36 on microscopy (SIM), ground-state depletion (GSD), and total internal reflection fluorescence microsc

37 attributed to ground-state destabilization (GSD) by desolvation and more recently to GSD by electros

38 population with genotypic sex determination (GSD) and fixed sex ratios.

39 are the relevant quantities for determining GSD effects); (v) the GSD mechanism is inconsistent with

40 t the first screening, 23 patients developed GSD during 3640 person-years of follow-up.

41 well-established risk factor for developing GSD.

42 ed to be significantly related to developing GSD.

43 the associated geometric standard deviation (GSD) appeared to be higher for iodine than for cesium is

44 yuan were 166 [Geometric Standard Deviation (GSD):2.0] and 146 (GSD:1.9) mug/m(3), respectively, whic

45 ], 2.26 mug/g, geometric standard deviation [GSD], 0.73, and GM, 27.04 mug/g, GSD, 0.57, respectively

46 ulations of patients with gallstone disease (GSD) and stone-free controls to identify differences in

47 Gallstone disease (GSD) is a common gastrointestinal disorder throughout th

48 Gallstone disease (GSD) is related to several diabetes risk factors.

49 set out to deconstruct genetic skin disease (GSD) into its various components, to more fully explore

50 tient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic ner

51 Type I glycogen storage disease (GSD) is caused by a deficiency of glucose-6-phosphatase

52 Pase) give rise to glycogen storage disease (GSD) type 1a, which is characterized in part by hypoglyc

53 ction secondary to glycogen storage disease (GSD) type 1b.

54 tanding enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endog

55 like conditions in glycogen storage disease (GSD) type Ib have been predominantly described in childr

56 stations of type 1 glycogen storage disease (GSD-1) in patients deficient in the glucose-6-phosphatas

57 reatment of type I glycogen storage disease (GSD-I) is to prevent hypoglycemia and its biochemical co

58 resis of the gelatinized starch dispersions (GSD).

59 assess the essential components that display GSD function, membranes with properties similar to those

60 ignificance as well because it distinguished GSD-IIIb from IIIa hence permitting diagnosis from a blo

61 ignaling domain" or "glycosignaling domain" (GSD) separable from cholesterol- and caveolin-enriched m

62 ling domain" or the "glycosignaling domain" (GSD).

63 Mutations explaining GSD Ia and DGS were found but no specific causative muta

64 Glc(4) is a good candidate biomarker for GSD II.

65 ome 11q23; thus it is a strong candidate for GSD-1b.

66 , sphingomyelin, and c-Src are essential for GSD function, a small quantity of cholesterol and phosph

67 The gene responsible for GSD-1b maps to human chromosome 11q23 and a candidate hu

68 ecessary prerequisite for mass screening for GSD II.

69 nts received annual follow-up screenings for GSD until 31 December, 2007.

70 vent of a new enzyme replacement therapy for GSD II, there is a need for early identification of pati

71 feasibility of gene replacement therapy for GSD-1a, we have infused adenoviral vector containing the

72 The R864X and R1228X were not unique for GSD-IIIb as they were also found in GSD-IIIa patients (f

73 ow show that G6PT-deficient neutrophils from GSD-Ib patients are similarly impaired.

74 deviation [GSD], 0.73, and GM, 27.04 mug/g, GSD, 0.57, respectively) than of non-hypoallergenic dogs

75 ypoallergenic dogs (n = 160, GM, 0.77 mug/g, GSD, 0.71, and GM, 12.98 mug/g, GSD, 0.76, respectively)

76 0.77 mug/g, GSD, 0.71, and GM, 12.98 mug/g, GSD, 0.76, respectively).

77 analysis, we propose use of the USGS glasses GSD-1G (delta(7)Li 31.14 +/- 0.8 per thousand, 2sigma) a

78 r to the indoor PM2.5 air concentrations [GM(GSD):162 (2.1) and 136 (2.0) mug/m(3), respectively].

79 Glycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by d

80 n addition to disrupted glucose homeostasis, GSD-Ib patients have unexplained and unexpected defects

81 human chromosome 11q23 and a candidate human GSD-1b cDNA that encodes a microsomal transmembrane prot

82 G6Pase deficiency that closely mimics human GSD-Ia.

83 se which mimics the pathophysiology of human GSD-1a patients was created to understand the pathogenes

84 at manifest symptoms characteristic of human GSD-1a.

85 Our results suggest that human GSD-Ia would be treatable by gene therapy.

86 haring 93-95% sequence homology to the human GSD-1b protein.

87 lication of glycogen storage disease type I (GSD I) and malignant transformation to hepatocellular ca

88 Glycogen storage disease type Ia (GSD-Ia) is characterized by impaired glucose homeostasis

89 is, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized b

90 Glycogen storage disease type Ia (GSD-Ia), which is characterized by impaired glucose home

91 Glycogen storage disease type-Ia (GSD-Ia) is caused by a lack of glucose-6-phosphatase-alp

92 arch therapy in patients with type Ia and Ib GSD.

93 Glycogen storage disease type Ib (GSD-Ib) is an autosomal-recessive syndrome characterized

94 Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosp

95 Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosp

96 Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosp

97 Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously ex

98 Glycogen storage disease type Ib (GSD-Ib) is caused by deficiencies in the glucose-6-phosp

99 Glycogen storage disease type-Ib (GSD-Ib), deficient in the glucose-6-phosphate transporte

100 identified in clinical cases of GSD type Ic (GSD-Ic) proposed to be deficient in an inorganic phospha

101 ients with glycogen storage disease type II (GSD II) typically excrete increased amounts of a glycoge

102 eficiency (glycogen storage disease type II [GSD II]), glycogen accumulates inside muscular lysosomes

103 Glycogen storage disease type III (GSD-III) is caused by a deficiency of glycogen debranchi

104 ty causes glycogen storage disease type III (GSD-III).

105 In GSD-1b subjects, we found lymphopenia and a reduced capa

106 toration of hepatic G6Pase-alpha activity in GSD-Ia mice not only attenuates the phenotype of hepatic

107 sed in treating the myeloid complications in GSD-Ib patients.

108 Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene

109 molecular basis for functional deficiency in GSD-1b and raise the possibility that the defective G6P

110 ormalizes hepatic G6Pase-alpha deficiency in GSD-Ia (G6pc(-/-) ) mice for at least 24 weeks.

111 tion, may underlie the myeloid deficiency in GSD-Ib.

112 lecular pathogenesis of tumor development in GSD I is unclear.

113 t the mechanism of neutrophil dysfunction in GSD-Ib arises from activation of the hypoxia-inducible f

114 he hypothesis that neutrophil dysfunction in GSD-Ib is due, at least in part, to ER stress and increa

115 one marrow underlies myeloid dysfunctions in GSD-Ib remains controversial.

116 erization of all 30 codon mutations found in GSD-Ib patients.

117 ique for GSD-IIIb as they were also found in GSD-IIIa patients (frequency of 10.3% and 5.2% in Caucas

118 GM3, destroy or reduce clustering of GM3 in GSD, and inhibit GM3-dependent adhesion and signaling.

119 ransduction, initiated by clusters of GM3 in GSD, is blocked by sialyl alpha2-->1 Sph or lyso-GM3.

120 d 2 codon deletions, have been identified in GSD-Ib patients.

121 rols to cholesterol precursors were lower in GSD patients, whereas biliary phytosterol and cholestero

122 s in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the dis

123 of autoimmune diseases has been observed in GSD-1b patients, but the molecular determinants leading

124 d higher levels of cholesterol precursors in GSD patients than in controls.

125 ry reports on residual glucose production in GSD Ia patients.

126 contribute to residual glucose production in GSD Ia.

127 leading to an increased autoimmunity risk in GSD-1b patients.

128 romosome 6p and loss of 6q were only seen in GSD Ia HCA (three cases) with one additional GSD I patie

129 an early event in the liver tumorigenesis in GSD I, and may be in general population.

130 and demonstrate that mutations uncovered in GSD-1b patients disrupt G6P transport.

131 molecular basis of enzymatic variability in GSD-III and to elucidate the mechanism for control of ti

132 molecular basis of enzymatic variability in GSD-III.

133 Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by

134 Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by

135 Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from

136 CO exposures were moderate [geometric means (GSD) were 40.5 mug/m3 (17.3) and 2.21 ppm (1.47) respect

137 Most GSD-III patients are GDE deficient in both liver and mus

138 ts hepatic G6Pase-alpha deficiency in murine GSD-Ia and prevents chronic HCA formation.

139 corrected hepatic G6PT deficiency in murine GSD-Ib but the G6PC promoter/enhancer was more efficacio

140 The expression profiles of murine GSD-1b and G6Pase differ both in the liver and in the ki

141 liver and the kidney and corrects the murine GSD-Ia disease for at least 12 months.

142 Using neonatal GSD-Ia mice, we now demonstrate that a combined adeno vi

143 Among the 1296 participants who exhibited no GSD at the first screening, 23 patients developed GSD du

144 tients who exhibited prevalent GSD, 2260 non-GSD participants received annual follow-up screenings fo

145 genes at 6q was reduced in more than 50% of GSD Ia HCA that were examined (n = 7).

146 To determine the molecular basis of GSD-III and elucidate the mechanisms for controlling tis

147 ed for the first time the molecular basis of GSD-III that differentially expressed in liver and muscl

148 The molecular basis of GSD-IV is not known, nor is there a known reason for the

149 PT gene were identified in clinical cases of GSD type Ic (GSD-Ic) proposed to be deficient in an inor

150 The underlying cause of GSD-Ib neutropenia is an enhanced neutrophil apoptosis,

151 phil/monocyte dysfunctions characteristic of GSD-1b patients.

152 ery presented with a post-natal diagnosis of GSD Ia.

153 ther patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients w

154 s indicate that the three different forms of GSD-IV were caused by mutations in the same GBE gene.

155 or in patients with the more severe forms of GSD-IV.

156 which disrupt the structure and function of GSD in B16 cells.

157 The authors explored the incidence of GSD in Taiwan and its condition-associated predictive fa

158 alleviate the pathological manifestations of GSD-1a in mice, suggesting that this disorder in humans

159 Here, we describe a mouse model of GSD IV that reflects this spectrum of disease.

160 Here, we describe two mouse models of GSD IV that reflect this spectrum of disease.

161 her our understanding of the pathogenesis of GSD-Ib.

162 ne in patients with various presentations of GSD-IV.

163 The baseline prevalence of GSD was 5.7% of the included participants.

164 The c-Src activation response of GSD isolated from B16 cells was inhibited strongly by si

165 The sizes of GSD Ia adenomas with chromosome 6 aberrations were large

166 Using OMIM, we defined the current state of GSD as including 560 distinct disorders associated with

167 Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and hepatospl

168 nstituted membrane closely simulates that of GSD in B16 cells, which is based on clustered GM3 organi

169 embranes with properties similar to those of GSD were reconstituted using GM3, sphingomyelin, and c-S

170 fully explain the sterol metabolic trait of GSD in any of the cohorts.

171 function of caveolae, but have no effect on GSD function.

172 However, only GSD-1b patients suffer infectious complications, which a

173 leading to a phenotype of lethal early onset GSD IV, with significant in utero accumulation of PG.

174 xhibit a phenotype similar to juvenile onset GSD IV, with wide spread accumulation of PG.

175 cluding 126 patients who exhibited prevalent GSD, 2260 non-GSD participants received annual follow-up

176 d and characterized candidate murine and rat GSD-1b cDNAs.

177 Such susceptibility of reconstituted GSD to lyso-GM3 and other lyso compounds is the same as

178 both liver and muscle (type IIIa), and some GSD-III patients have GDE absent in liver but retained i

179 n hepatocytes isolated from a liver-specific GSD Ia mouse model (L-G6pc(-/-) mice) and performed real

180 protein residues in the electrostatic stress GSD mechanism overlooks the fact that the positively cha

181 tection of target genes was performed in ten GSD Ia-associated HCA and seven general population HCA c

182 ole as a G6P and a P(i) transporter and that GSD-Ib and GSD-Ic are deficient in the same G6PT gene.

183 Using GSD-Ib mice, we showed that GSD-Ib neutrophils exhibited increased production of ER

184 ily in the liver, kidney, and intestine, the GSD-1b mRNA is expressed in numerous tissues, including

185 fer both in the liver and in the kidney; the GSD-1b transcript appears before the G6Pase mRNA during

186 ng one risk haplotype carried by 35 % of the GSD cases and 10 % of the GSD controls (OR = 5.1, p = 5.

187 and another haplotype present in 85 % of the GSD cases and 98 % of the GSD controls and conferring a

188 ied by 35 % of the GSD cases and 10 % of the GSD controls (OR = 5.1, p = 5.9 x 10(-5)), and another h

189 ent in 85 % of the GSD cases and 98 % of the GSD controls and conferring a protective effect against

190 omal aberrations were detected in 60% of the GSD Ia HCA and 57% of general population HCA.

191 None of the GSD Ia HCA had biallelic mutations in the HNF1A gene.

192 We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region o

193 we reiterate our previous arguments that the GSD mechanisms are not likely to play a major role in en

194 TD-model performed best in comparison to the GSD-model for these compounds (average absolute errors o

195 tities for determining GSD effects); (v) the GSD mechanism is inconsistent with the observed binding

196 utations in the gene that segregate with the GSD-1b disorder.

197 study, the analysis of the GDE gene in three GSD-IIIb patients by single-strand conformation polymorp

198 e second mutant alleles in each of the three GSD-IIIb patients were R864X, R1228X, and W68OX.

199 Individuals predisposed to GSD display increased biliary output of cholesterol in t

200 on (GSD) by desolvation and more recently to GSD by electrostatic stress.

201 a and/or neutrophil dysfunction secondary to GSD type 1b were treated with rhG-CSF.

202 s due to the TS stabilization rather than to GSD.

203 Lime-treated GSD exhibited thixotropic and viscoelastic behaviour.

204 adeno-associated virus (rAAV) vector-treated GSD-Ia mice (AAV-NT mice) expressing a wide range (0.9-6

205 tation was found in one of the remaining two GSD-IIIb patients.

206 Using GSD-Ib mice, we showed that GSD-Ib neutrophils exhibited

207 The present study was to examine whether GSD was independently associated with type 2 diabetes in

208 nvolving 33 enzymatically proved adults with GSD II treated only with a low-carbohydrate/high-protein

209 l/L for > or = 7 h in most young adults with GSD-I.

210 d genetic alterations in HCA associated with GSD I.

211 netic characteristics of HCA associated with GSD Ia.

212 a and neutrophil dysfunction associated with GSD type 1b.

213 atty liver disease were also associated with GSD.

214 pecific association of exon 3 mutations with GSD-IIIb may provide insight into mechanisms controlling

215 cription of ocular changes in a patient with GSD Ia and DGS.

216 dult 33-year-old Caucasian male patient with GSD type Ib accompanied with IBD-like disease with persi

217 orts were analyzed: 112 German patients with GSD and 152 controls; two distinct Chilean ethnic groups

218 This therapy may allow patients with GSD to sleep through the night without awakening for the

219 ntrast to G6Pase(-/-) mice and patients with GSD type 1a, UGRP(-/-) mice exhibit no change in hepatic

220 ion as do G6Pase(-/-) mice and patients with GSD type 1a.

221 We suggest that symptomatic patients with GSD type Ib should undergo endoscopic examination in ord

222 In seven patients with GSD-I with a mean age of 19.5 y (range: 18.8-21.7 y), we

223 ios (HRs) for type 2 diabetes for those with GSD were 1.09 (95% CI: 0.96-1.24; P = 0.206), 1.21 (95%

224 Compared with participants without GSD at baseline, the multivariate-adjusted hazard ratios