Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.
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Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasiaEndoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and XCollagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophyExpression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers.COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.A cellular model for the investigation of Fuchs' endothelial corneal dystrophy.Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte-specific expression in vivo.Hypertrophic chondrocytes have a limited capacity to cope with increases in endoplasmic reticulum stress without triggering the unfolded protein responseThe unfolded protein response and its relevance to connective tissue diseases.Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention, and activation of the unfolded protein response.
P2860
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P2860
Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Collagen X chains harboring Sc ...... d in stably transfected cells.
@en
type
label
Collagen X chains harboring Sc ...... d in stably transfected cells.
@en
prefLabel
Collagen X chains harboring Sc ...... d in stably transfected cells.
@en
P2860
P356
P1476
Collagen X chains harboring Sc ...... d in stably transfected cells.
@en
P2093
Susanna Freddi
P2860
P304
12516-12524
P356
10.1074/JBC.M112044200
P407
P577
2002-01-22T00:00:00Z