ライフサイエンスコーパス: collagen VI

1 and its response to rescue agents other than collagen VI.

2 keratan sulfate, collagen I, collagen V, and collagen VI.

3 y stages through secretion and processing of collagen VI.

4 that includes a subunit of the nonfibrillar collagen VI.

5 cellular matrix including an accumulation of Collagen VI.

6 utations in the extracellular matrix protein collagen VI.

7 scle and connective tissue have mutations in collagen VI.

8 nes in breast cancer and is coexpressed with collagen VI.

9 sive or dominant mutations in genes encoding collagen VI.

10 Collagen VI, a collagen with uncharacteristically large

11 mal collagen revealed a relative increase in collagen VI, accompanied by a decrease in collagen I, in

12 n between collagen-I and the area of stroma, collagen-VI, adipose tissue, and M2-macrophages number.

13 The identification of three novel long collagen VI alpha chains, alpha4, alpha5, and alpha6, le

14 ppears intrinsic to the VWA domain region of collagen VI alpha3 and has implications for binding inte

15 within the C-terminal globular region of the collagen VI alpha3 chain plays a major role.

16 etailed information on the processing of the collagen VI alpha3 chain reported here provides a basis

17 lization of N- and C-terminal regions of the collagen VI alpha3 chain revealed that cleavage products

18 XR1 by its natural ligand C5A, a fragment of collagen VI alpha3, increased stem cell self-renewal in

19 of NG2 also appears responsible for loss of collagen VI anchorage, in turn leading to reduced collag

20 mmunolabeled for collagenase, insulin, CK19, collagen VI and CD31, then assessed by confocal microsco

21 Localization of collagen VI and fibrillin within the gradient was achiev

22 Collagen VI and fibronectin mRNA expression increased in

23 alpha 2 chain, for all three alpha chains of collagen VI and for integrin alpha 2.

24 Unlike both Fras1 and Grip1 mutants, collagen VI and Fras1 deposition in the basement membran

25 Collagen VI and laminin protein levels were increased in

26 an unanticipated spatial association between collagen VI and SOX9(high) luminal progenitor cell local

27 in the glomerular ECM together with abundant collagen VI and TINAGL1.

28 n 4 weeks by a mechanism mediated in part by collagen VI and XII.

29 ead throughout the pancreas, associated with collagen VI, and adjacent to CK19-labeled ducts.

30 alpha 1/2(IV), appearance of fibronectin and collagen VI, and increased levels of perlecan.

31 ncluding genes for known binding partners of collagen VI, and those enzymes involved in its correct p

32 By qPCR, increases in levels of periostin, collagen VI, and transforming growth factor beta1 were l

33 cellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extra

34 These results identify collagen VI as an important component of the neuronal in

35 igands and identified the alpha 3 subunit of collagen VI as an interacting partner.

36 ins known to be involved in trimerization of collagen VI, as well as in collagen VII.

37 Collagen VI assembles from heterotrimers of three differ

38 mportant for intracellular and extracellular collagen VI assembly and emphasize the importance of mol

39 VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular m

40 raction sites involved in different steps of collagen VI assembly, from the trimeric-coiled coil regi

41 may substitute for the long alpha3 chain in collagen VI assembly.

42 Reduction of collagen VI augmented Abeta neurotoxicity, whereas treat

43 y, whereas treatment of neurons with soluble collagen VI blocked the association of Abeta oligomers w

44 affected, although heterozygous mutations in collagen VI caused Bethlem myopathy.

45 However, how loss of collagen VI causes mitochondrial dysfunction remains to

46 n summary, the discovery of three additional collagen VI chains doubles the collagen VI family and ad

47 n by the chemical probe SGC-CBP30 identified collagen VI (Col VI) as a prominent downstream regulator

48 Collagen VI (COL6) is highly expressed in adipose tissue

49 Collagen VI (COL6) is known for its role in a spectrum o

50 acellular matrix-associated genes, including collagen VI, collagen III, and tissue inhibitor of metal

51 a proteinaceous polymer, here identified as collagen VI (COLVI) by immuno-electron microscopy (IEM)

52 he transcriptional coactivator YAP1 promotes collagen VI (COLVI) deposition in the UPS TME.

53 e the structures of both heterotrimeric mini-collagen VI constructs and collagen VI microfibrils, fro

54 Collagen VI contains only a short triple helix and consi

55 Mean islet area and the proportional collagen VI content in specimens from younger subjects w

56 m CR increased the satellite cell number and collagen VI content of muscle, but resulted in a delayed

57 However, the proportional collagen VI content was not dependent on the age of the

58 cells in culture and is not specific to the collagen VI defect, and can in any case be rescued by a

59 ntly into microfibrils and there is a severe collagen VI deficiency in the extracellular matrix.

60 me in collagen VI-null mice, confirming that collagen VI-dependent basal lamina assembly is a critica

61 e coverage of endothelial cells) showed that collagen VI-dependent defects during the assembly of the

62 Similarly, increased collagen III and collagen VI deposition with exaggerated collagen fibril

63 amino-telopeptide of type 1 collagen (ICTP), collagen VI, desmosine, matrix metalloproteinase 2 (MMP-

64 Although the ablation of collagen VI did not alter the abundance of blood vessels

65 he development of a mouse model for dominant collagen VI disorders by deleting exon 16 in the Col6a3

66 f molecular investigations for families with collagen VI disorders to ensure accurate diagnosis and g

67 developing treatment strategies for dominant collagen VI disorders.

68 ed Emery-Dreifuss muscular dystrophy and the collagen VI disorders.

69 Immuno-EM of collagen VI extracted from tissue revealed that like the

70 ee additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to col

71 compound heterozygous mutations in COL6A3, a collagen VI gene associated previously with muscular dys

72 ich can be caused by mutations in one of the collagen VI genes (COL6A1, COL6A2 and COL6A3).

73 We report the identification of three new collagen VI genes at a single locus on human chromosome

74 Mutations in any of the three collagen VI genes cause congenital muscular dystrophy ty

75 Dominant mutations in all three collagen VI genes had previously been associated with th

76 Dominant and recessive mutations in collagen VI genes, COL6A1, COL6A2, and COL6A3, cause a c

77 Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been

78 t common recurrent causative variants in the collagen VI genes.

79 Collagen VI has a ubiquitous distribution throughout con

80 es of laminin alpha2, alpha-dystroglycan, or collagen VI in 50% of patients.

81 We hypothesized that a reduction of Collagen VI in a muscular dystrophy model that presents

82 obtain new insights into the organisation of collagen VI in assembled microfibrils.

83 y, human genetic studies recently implicated collagen VI in central nervous system function, with var

84 llagens I, II, and III and basement membrane collagen VI in fibroblast-rich regions in both diseases.

85 agenases, targeting major substrates such as collagen VI in order to improve clinical islet isolation

86 leading to a loss of normal localization of collagen VI in the basement membrane surrounding muscle

87 sociated with a deficiency or dysfunction of collagen VI in the extracellular matrix of muscle are co

88 se in mice and involves deposition of excess collagen VI in the intestine by migrating ENS precursors

89 the proinvasive ECM proteins collagen IV and collagen VI in the mammary glands and enhanced the invas

90 ibroblasts (the predominant source of muscle collagen VI), in myoblast cells from patients with other

91 the tumor stroma, one of these including the collagen VI interacting network.

92 Collagen VI is a highly enriched extracellular matrix co

93 Collagen VI is a key component of muscle basement membra

94 Collagen VI is a major component of the islet-exocrine i

95 This appears to be due to the fact that collagen VI is a poor substratum for supporting eNCC mig

96 Collagen VI is a ubiquitous heterotrimeric protein of th

97 Collagen VI is a ubiquitously expressed extracellular mi

98 Collagen VI is abundantly expressed in adipocytes.

99 Collagen VI is an integral part of the skeletal muscle e

100 Some collagen VI is assembled, albeit more slowly than normal

101 d genetic mouse models, we demonstrated that collagen VI is initially assembled at the cell surface a

102 repertoire of matrix constituents (decorin, collagen VI, laminin alpha2, endostatin, endorepellin, a

103 Mutations in collagen VI lead to a spectrum of congenital myopathies,

104 h encode the extra-cellular matrix component collagen VI, lead to Bethlem myopathy and Ullrich congen

105 Increased collagen VI levels during development mainly result in s

106 Collagen VI links the cell surface to the extracellular

107 uced to 57-73% of the control, but long term collagen VI matrix depositions are comparable with that

108 In conclusion, our results reveal that Collagen VI-mediated fibrosis contributes to skeletal mu

109 Large collagen VI microfibrillar aggregates were present at th

110 ed and exerted a dominant-negative effect on collagen VI microfibrillar assembly.

111 However, the distribution and quantity of collagen VI, microfibrillar collagen that forms an open

112 e mutant mice are deficient in extracellular collagen VI microfibrils and exhibit myopathic features,

113 method is described for the purification of collagen VI microfibrils and fibrillin-containing microf

114 these aggregates and enabled purification of collagen VI microfibrils at a density of 1.33 g/ml.

115 The assembly of collagen VI microfibrils is a multistep process in which

116 nerated three-dimensional reconstructions of collagen VI microfibrils using automated electron tomogr

117 are also specifically surrounded by abundant collagen VI microfibrils, an outcome accentuated by Down

118 terotrimeric mini-collagen VI constructs and collagen VI microfibrils, from mammalian tissue, using c

119 1(VI) and alpha2(VI) chains to form trimeric collagen VI molecules that were secreted from the cell.

120 he chain from assembling into triple-helical collagen VI molecules.

121 ferator-activated receptor gamma1 and higher collagen VI mRNA expression, which correlated with AT pO

122 uctural ECM genes (fibronectin, collagen IV, collagen VI, myocilin), matricellular genes (connective

123 s, we have generated zebrafish models of the collagen VI myopathies.

124 ion-dependent adhesion site, resulting in a collagen VI network containing thick fibrils and spots w

125 ly responsible for secreting collagen IV and collagen VI, not adipocytes.

126 oduced a twofold decrease in tumor volume in collagen VI-null mice, confirming that collagen VI-depen

127 lanoma tumors in the brains of wild-type and collagen VI-null mice.

128 In 12-day collagen VI-null tumors, vascular endothelial growth fac

129 l size was correspondingly reduced in 12-day collagen VI-null tumors.

130 icating a distinct tissue-specific effect of collagen VI on collagen I fibrillogenesis.

131 orm for rationale design of therapeutics for collagen VI pathologies.

132 Compared with WT controls, mice with collagen VI promoter-driven overexpression of DEL-1 in m

133 Collagen VI promotes its growth-stimulatory and pro-surv

134 The mean peri-islet collagen VI proportion was significantly greater than th

135 on of Col6a4 expression that increases total collagen VI protein levels in the extracellular matrix (

136 Collagen VI-related dystrophies manifest with a spectrum

137 scle pathology features highly suggestive of collagen VI-related dystrophy, some patients had remaine

138 Collagen VI-related myopathies are disorders of connecti

139 for the genetic evaluation of patients with collagen VI-related myopathies as well as for potential

140 ion in correlation to motor abilities in the collagen VI-related myopathies by analysing longitudinal

141 ar matrix of muscle are collectively termed 'collagen VI-related myopathies' and include Ullrich cong

142 our knowledge of the natural history of the collagen VI-related myopathies, enabling proactive optim

143 se patients were categorized as intermediate collagen VI-related myopathy and the remaining patients

144 s (+/-4.0) and in patients with intermediate collagen VI-related myopathy by 20.7 years (+/-1.5).

145 ion with motor function profiles to stratify collagen VI-related myopathy patients phenotypically.

146 genetically and/or pathologically confirmed collagen VI-related myopathy patients were performed at

147 imaging, pointed towards Bethlem myopathy, a collagen VI-related myopathy, we pursued Sanger sequenci

148 Mutations in collagen VI result in either Ullrich congenital muscular

149 The absence of collagen VI results in the uninhibited expansion of indi

150 The minute amount of collagen VI secreted by the R876S fibroblasts was solely

151 cial to determine the final placement of the collagen VI shell.

152 , kallekrein-14, serpin B6, tetranectin, and collagen VI showed a bias for reduction.

153 animals exposed to WNT-974, deletion of the collagen VI subunit, COL6A1, has been shown to decrease

154 eolytic maturations occur after secretion of collagen VI tetramers and during microfibril assembly.

155 Collagen VI tetramers containing the alpha2(VI) C2a chai

156 avage and rendered a disordered structure to collagen VI, the main collagen produced by UM, and reduc

157 In 7-day tumors in the absence of collagen VI, the width of the vascular basal lamina was

158 In addition to rescue by cyclosporine A and collagen VI, this cellular phenotype was also rescued by

159 ease, increased mouse neuronal expression of collagen VI through a mechanism involving transforming g

160 llary acidic protein staining, and spread of collagen VI vascular immunolabeling.

161 vertebrate collagens, with the exception of collagens VI, VII, XXVI and XXVIII, can be categorized i

162 istribution of the alpha3(VI)-like chains of collagen VI was not altered in mutant mice during develo

163 Collagen VI was the most significantly downregulated pro

164 To elucidate the neurophysiological role of collagen VI, we generated mice with a truncation of the

165 To elucidate the neurophysiological role of collagen VI, we generated mice with a truncation of the

166 hese two patients, secretion and assembly of collagen VI were moderately affected by the E624K mutati

167 N- and C-terminal globular regions of collagen VI were recombinantly expressed and studied by