ライフサイエンスコーパス: CDG

1 CDG-3 can detect 10 colony-forming units of the attenuat

2 CDGs effectively reduced islet loss by minimizing islet

3 y of this variant in 301 controls and in 101 CDG patients who carry known mutations in other genes in

4 ongenital disorder of glycosylation type 1a (CDG-1a) is a congenital disease characterized by severe

5 ortantly, the F304S genotype frequency in 55 CDG-Ia patients classified as mild/moderate (n = 28), or

6 hemical profiling was conducted to confirm a CDG type I defect.

7 Although most patients receive a CDG diagnosis based on abnormal glycosylation of transfe

8 First, intranasally administered CDG greatly enhances Ag uptake, including pinocytosis an

9 cal outcome, especially in severely affected CDG patients.

10 12-CDG), DPAGT1 (DPAGT1-CDG), and ALG1 (ALG1-CDG) also identified multiple genotypes including wild-t

11 MPI (MPI-CDG), ALG3 (ALG3-CDG), ALG12 (ALG12-CDG), DPAGT1 (DPAGT1-CDG), and ALG1 (ALG1-CDG) also iden

12 f PMM2 (PMM2-CDG), MPI (MPI-CDG), ALG3 (ALG3-CDG), ALG12 (ALG12-CDG), DPAGT1 (DPAGT1-CDG), and ALG1 (

13 The patients with subtypes CDG-Ia and CDG-Ib have mutations in the genes encoding phosphomanno

14 similar clinical and microscopic findings as CDG but DIF staining is negative.

15 n-6-P for glycosylation and possibly benefit CDG-Ia patients with residual PMM2 activity.

16 ariant allele frequency is identical in both CDG patients (0.30) and controls (0.28).

17 ic acid containing 7-carboxy-7-deazaguanine (CDG) into its corresponding nitrile, 7-cyano-7-deazaguan

18 7-Carboxy-7-deazaguanine (CDG) synthase (QueE) catalyzes a key step in the biosynt

19 7-Carboxy-7-deazaguanine (CDG) synthase (QueE) catalyzes the complex heterocyclic

20 ovel intermediate, 7-carboxy-7-deazaguanine (CDG), by an unusual transformation catalyzed by Bacillus

21 tation of phosphomannose isomerase-deficient CDG-Ib (MPI-CDG) cells and complementation with PMM2 in

22 rom exogenous mannose, whereas MPI-deficient CDG fibroblasts with reduced glucose flux secure 80% of

23 everse most of the symptoms of MPI-deficient CDG-Ib patients.

24 complementation with PMM2 in PMM2-deficient CDG-Ia (PMM2-CDG) cells partially corrected hypoglycosyl

25 We propose to call this new disorder CDG-IIh or CDG-II/COG8.

26 in DPM1 define a new glycosylation disorder, CDG-Ie.

27 ALG3-CDG), ALG12 (ALG12-CDG), DPAGT1 (DPAGT1-CDG), and ALG1 (ALG1-CDG) also identified multiple genot

28 s of DPM: DPM1, DPM2, and DPM3, whereby DPM2-CDG links the congenital disorders of glycosylation to t

29 pecific Abs or Th1/Th2/Th17 cytokines during CDG/Ag immunization.

30 y contrast, GCS1 cDNA with an R486T or F652L CDG IIb mutation gave substantial rescue of the Lec23 ph

31 Twenty-two of 23 female CDG cases were positive for ER, although the degree of s

32 ate that TNF-alpha signaling is critical for CDG-induced Ag-specific Ab and Th1/Th2 cytokine producti

33 tablish a mannose-responsive mouse model for CDG-Ib, we ablated Mpi and provided dams with mannose to

34 ), is shown to be an alternate substrate for CDG synthase.

35 n profiles are reliable diagnostic tools for CDGs.

36 The most common form, CDG type Ia (CDG-Ia), results from a deficiency of the e

37 lycoproteins (detected with antibodies) from CDG-Ia fibroblasts being fully glycosylated.

38 arious cell lines including fibroblasts from CDG-Ia patients and improves N-glycosylation.

39 st cases of chronic desquamative gingivitis (CDG) are shown by direct immunofluorescence (DIF) to be

40 cause congenital disorders of glycosylation CDG-type Ia and type Ib, respectively.

41 ype II congenital disorder of glycosylation (CDG) and the blood manganese levels were below the detec

42 Congenital disorders of glycosylation (CDG) are a group of metabolic diseases due to defects in

43 Congenital disorders of glycosylation (CDG) are a group of multisystemic disorders resulting fr

44 The congenital disorders of glycosylation (CDG) are characterized by defects in N-linked glycan bio

45 Congenital disorders of glycosylation (CDG) are inherited autosomal-recessive diseases that imp

46 ly 50 congenital disorders of glycosylation (CDG) are known, but many patients biochemically diagnose

47 Congenital disorders of glycosylation (CDG) are rare genetic disorders due to impaired glycosyl

48 f the congenital disorders of glycosylation (CDG) has a mutation (911T-->C ) that changes a phenylala

49 drome congenital disorders of glycosylation (CDG) have mutations in the gene encoding Cog7p, a member

50 linked congenital disorder of glycosylation (CDG) in three unrelated families.

51 rom 31 congenital disorder of glycosylation (CDG) patients compared with normal controls.

52 es of congenital disorders of glycosylation (CDG) which are caused by mutations in different isoforms

53 common congenital disorder of glycosylation (CDG), phosphomannomutase 2 (PMM2)-CDG, is caused by muta

54 s with congenital disorder of glycosylation (CDG), type Ib (MPI-CDG or CDG-Ib) have mutations in phos

55 causes congenital disorder of glycosylation (CDG)-Ia, a broad spectrum disorder with developmental an

56 uses a congenital disorder of glycosylation (CDG)-Ib (MPI-CDG).

57 own as congenital disorder of glycosylation (CDG)-IIc, a rare human disorder characterized by psychom

58 wn as congenital disorders of glycosylation (CDG).

59 human congenital disorders of glycosylation (CDG).

60 pected congenital disorder of glycosylation (CDG).

61 ype II congenital disorder of glycosylation (CDG-II) caused by mutations in the conserved oligomeric

62 Congenital disorders of glycosylation (CDGs) are caused by defects in genes that participate in

63 Congenital disorders of glycosylation (CDGs) are disorders of abnormal protein glycosylation th

64 Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynt

65 Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous gr

66 fatal congenital disorders of glycosylation (CDGs) in humans.

67 f the congenital disorders of glycosylation (CDGs).

68 alled congenital disorders of glycosylation (CDGs).

69 human congenital disorder of glycosylation, CDG-IIc (also known as LAD-II), which is also the result

70 Cyclic di-GMP (CDG) is a promising mucosal vaccine adjuvant.

71 The efficiency of custom density gradients (CDGs) to recover high islet yield was compared with pred

72 n of islets were recovered using ATGS-guided CDGs (85.9%+/-18.0%) compared with the SDG method (69.2%

73 Using ATGS-guided CDGs maximizes the islet recovery for successful transpl

74 ty of individuals with compound heterozygous CDGs.

75 However, CDG-Ia patients do not benefit from mannose supplementat

76 (2)-P-P-dolichol, without hypoglycosylation, CDG-Ia fibroblasts grown with physiological glucose.

77 The most common form, CDG type Ia (CDG-Ia), results from a deficiency of the enzyme phospho

78 ing congenital disorder of glycosylation Ib (CDG-Ib), but oral mannose supplements normalize glycosyl

79 e of estrogen in the treatment of idiopathic CDG.

80 ctin ligand expression reminiscent of LAD-II/CDG-IIc.

81 ngenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG.

82 In CDG cells carrying the GFP construct, a 25% decrease of

83 to analyze steady-state LLO compositions in CDG-Ia fibroblasts.

84 l versus idiopathic) and expression of ER in CDG gingiva.

85 patically produced N-linked glycoproteins in CDG-Ia blood are hypoglycosylated.

86 issing link" to explain hypoglycosylation in CDG-Ia patients.

87 y known mutations in other genes involved in CDG, i.e. PMM2 (CDG-Ia; 91 patients) and MPI (CDG-Ib; 10

88 Here, we report somatic mosaicism in CDG, and our work stresses the importance of combining b

89 cytokine and Ab responses were unaltered in CDG/Ag-immunized IFNAR(-/-) mice.

90 ansferrin do not have mutations in any known CDG genes.

91 Upon labeling with [(3)H]mannose, CDG-Ia fibroblasts have been widely reported to accumula

92 ation type IIb (CDG-IIb), also known as MOGS-CDG.

93 much longer than the previous report of MOGS-CDG, in a child who died at 74 days of age.

94 two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide glucosi

95 r (3'-5')-cyclic-di-guanosine-monophosphate (CDG) is a promising mucosal adjuvant candidate that acti

96 Because most CDGs have been described in only a few individuals, our

97 DG, i.e. PMM2 (CDG-Ia; 91 patients) and MPI (CDG-Ib; 10 patients).

98 ever, mothers who are at risk for having MPI-CDG children and who consume mannose during pregnancy ho

99 isorder of glycosylation (CDG), type Ib (MPI-CDG or CDG-Ib) have mutations in phosphomannose isomeras

100 osphomannose isomerase-deficient CDG-Ib (MPI-CDG) cells and complementation with PMM2 in PMM2-deficie

101 ital disorder of glycosylation (CDG)-Ib (MPI-CDG).

102 ygous mutations of PMM2 (PMM2-CDG), MPI (MPI-CDG), ALG3 (ALG3-CDG), ALG12 (ALG12-CDG), DPAGT1 (DPAGT1

103 e Mpi ablation is embryonic lethal, a murine CDG-Ib model will require hypomorphic Mpi alleles.

104 We describe a new CDG, due to a deficiency of DPM2.

105 Notably, CDG induces IFNlambda, but not IFNbeta, in vivo.

106 oduction in the mucosal adjuvant activity of CDG in vivo and revealed a novel IFN-I stimulation-indep

107 was shown to proceed via the adenylation of CDG, which activates it to form the newly discovered ami

108 Intranasal administration of CDG did not induce TNF-alpha, IL-1beta, IL-6, IL-12, or

109 Gingival tissue from 24 cases of CDG and one case of ordinary gingivitis were studied for

110 It has been suggested that those cases of CDG may be hormone (estrogen) mediated and may be treate

111 biomarker to assess gene complementation of CDG-I patient cells and to monitor improved glycosylatio

112 e describe two siblings with a fatal form of CDG caused by a mutation in the gene encoding COG-7, a s

113 The recent discovery of a form of CDG, caused in part by a COG4 missense mutation changing

114 agnostic framework for the identification of CDG defects involving trafficking proteins.

115 We identified two in vivo mechanisms of CDG.

116 We describe a new type of CDG caused by mutations in the steroid 5alpha-reductase

117 These cases represent a new type of CDG in which the molecular defect lies in a protein that

118 be very useful for uncovering other types of CDG as well.

119 ns of MPYS and advanced our understanding of CDG as a mucosal vaccine adjuvant.

120 Different forms of CDGs can be recognized by altered isoelectric focusing (

121 To improve the diagnosis of these groups of CDGs, we have developed serum or plasma N- and O-glycan

122 A subgroup of CDGs can be attributed to disturbed Golgi homeostasis.

123 Current diagnostic testing of CDGs largely relies on indirect analysis of glycosylatio

124 The carboxylate moiety on CDG is converted subsequently to a nitrile to yield preQ

125 of glycosylation (CDG), type Ib (MPI-CDG or CDG-Ib) have mutations in phosphomannose isomerase (MPI)

126 propose to call this new disorder CDG-IIh or CDG-II/COG8.

127 iencies, one with TMEM165-CDG, two with PGM1-CDG, and three with SLC35A2-CDG, and one patient with co

128 We define PGM3-CDG as a treatable immunodeficiency, document the power

129 s in other genes involved in CDG, i.e. PMM2 (CDG-Ia; 91 patients) and MPI (CDG-Ib; 10 patients).

130 osylation (CDG), phosphomannomutase 2 (PMM2)-CDG, is caused by mutations in PMM2 that limit availabil

131 Both Pmm2(R137H/F115L) mouse and PMM2-CDG patient-derived fibroblasts displayed reductions in

132 Here we report a morpholino-based PMM2-CDG model in zebrafish.

133 Congenital disorder of glycosylation (PMM2-CDG) results from mutations in pmm2, which encodes the p

134 ion with PMM2 in PMM2-deficient CDG-Ia (PMM2-CDG) cells partially corrected hypoglycosylation based o

135 ed growth seen both in our model and in PMM2-CDG patients.

136 we report the first zebrafish model of PMM2-CDG and uncover novel cellular insights not possible wit

137 This functional mouse model of PMM2-CDG, in vitro assays and identification of the novel gp1

138 ompound heterozygous mutations of PMM2 (PMM2-CDG), MPI (MPI-CDG), ALG3 (ALG3-CDG), ALG12 (ALG12-CDG),

139 lopmental abnormalities consistent with PMM2-CDG patients, including craniofacial defects and impaire

140 revalent alleles found in patients with PMM2-CDG.

141 similar to those found in patients with PMM2-CDG.

142 ibroblasts of individuals with MPI- and PMM2-CDGs.

143 The fluorogenic probe CDG-3 is based on cephalosporin with substitutions at th

144 A refined green fluorescent probe (CDG-OMe) enabled the successful detection of live pathog

145 Metabolic investigations revealed CDG-I, pointing to a defect in protein N-glycosylation i

146 In a trial with 50 clinical samples, CDG-3 detected tuberculosis with 90% sensitivity and 73%

147 G, two with PGM1-CDG, and three with SLC35A2-CDG, and one patient with combined type I and type II of

148 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation.

149 viously underdescribed feature of the SRD5A3-CDG disorder that is progressive and may lead to serious

150 Additional cases of STT3B-CDG may be missed by transferrin analysis and will requi

151 The patients with subtypes CDG-Ia and CDG-Ib have mutations in the genes encoding p

152 congenital disorder of glycosylation termed CDG IIb.

153 Finally, we found that CDG activates STING-dependent, but IRF3 stimulation-inde

154 Instead, we found that CDG activates STING-dependent, IFN-I-independent TNF-alp

155 Second, we found that CDG selectively activated pinocytosis-efficient-DCs, lea

156 Here, we showed, in mice, that CDG elicits stronger Ab and TH responses than the mammal

157 We showed previously that CDG activates stimulator of IFN genes (STING)-dependent

158 n whether STING or IFN-I is required for the CDG adjuvant activity in vivo.

159 or allografts was significantly lower in the CDG group.

160 Using standard DIF analysis, 11 of the CDG cases were diagnosed as benign mucous membrane pemph

161 hree with COG deficiencies, one with TMEM165-CDG, two with PGM1-CDG, and three with SLC35A2-CDG, and

162 ate the mechanism of conversion of CPH(4) to CDG.

163 carboxy-5,6,7,8-tetrahydropterin (CPH(4)) to CDG in the third step of the biosynthetic pathway to all

164 of mutations in human GCS1 that give rise to CDG IIb.

165 e genotype-phenotype relationship underlying CDG-1a.

166 om families affected by genetically unsolved CDGs and identified four individuals with different muta

167 to identify the genetic defect in an untyped CDG patient, and we found a 22 bp deletion and a missens

168 confirming the defective gene in an untyped CDG patient.

169 t many patients biochemically diagnosed with CDG do not have mutations in known genes.

170 lasts and lymphoblasts from 23 patients with CDG-Ia (range 0-15.3% of control, average 4.9+/-4.7%) an

171 electric focusing, to diagnose patients with CDG-Ia and to identify heterozygotes when clinically ind

172 We evaluated two siblings with CDG-IIb who presented with multiple neurologic complicat

173 ong a group of unresolved case subjects with CDG.

174 ical failure of dietary mannose therapy with CDG-Ia patients are discussed.

175 rifications, more islets were recovered with CDGs (81.9%+/-28.0%) than SDGs (55.8%+/-22.8%; P=0.03).