Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones. (Q38327412)

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English	Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones.	scientific article

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scholarly article

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11 November 2019

Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones (English)

1 reference

Europe PubMed Central

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11 November 2019

molecular chaperones

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Stephen H. McLaughlin

1

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11 November 2019

Neil J. Bulleid

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11 November 2019

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S N Conn

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11 November 2019

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1 March 1999

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11 November 2019

Journal of Biological Chemistry

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11 November 2019

274

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11 November 2019

11

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11 November 2019

7570-7575

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11 November 2019

Isolation of cDNAs encoding the complete sequence of bovine type X collagen. Evidence for the condensed nature of mammalian type X collagen genes

1 reference

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21 January 2018

Macromolecular organization of chicken type X collagen in vitro

1 reference

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21 January 2018

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia

1 reference

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Molecular recognition in procollagen chain assembly

1 reference

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The C-propeptide domain of procollagen can be replaced with a transmembrane domain without affecting trimer formation or collagen triple helix folding during biosynthesis

1 reference

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The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

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21 January 2018

Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia

1 reference

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21 January 2018

Site-directed mutagenesis of human type X collagen. Expression of alpha1(X) NC1, NC2, and helical mutations in vitro and in transfected cells

1 reference

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21 January 2018

A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia

1 reference

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Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: implications for function

1 reference

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Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias

1 reference

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A novel mutation substituting tryptophan with arginine in the carboxyl-terminal, non-collagenous domain of collagen X in a case of Schmid metaphyseal chondrodysplasia

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21 January 2018

Preparative in vitro mRNA synthesis using SP6 and T7 RNA polymerases.

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Morphological analysis of protein transport from the ER to Golgi membranes in digitonin-permeabilized cells: role of the P58 containing compartment

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The translocation, folding, assembly and redox-dependent degradation of secretory and membrane proteins in semi-permeabilized mammalian cells

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The transcription and translation in vitro of individual cereal storage-protein genes from wheat (Triticum aestivum, cv. Chinese Spring). Evidence for translocation of the translation products and disulphide-bond formation

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The fibrillar collagens, collagen VIII, collagen X and the C1q complement proteins share a similar domain in their C-terminal non-collagenous regions

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Type-III procollagen assembly in semi-intact cells: chain association, nucleation and triple-helix folding do not require formation of inter-chain disulphide bonds but triple-helix nucleation does require hydroxylation

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The amino acid following an asn-X-Ser/Thr sequon is an important determinant of N-linked core glycosylation efficiency

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Protein disulfide isomerase acts as a molecular chaperone during the assembly of procollagen

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Interactions between newly synthesized glycoproteins, calnexin and a network of resident chaperones in the endoplasmic reticulum

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Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition

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Normal long bone growth and development in type X collagen-null mice

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Thiol-independent interaction of protein disulphide isomerase with type X collagen during intra-cellular folding and assembly

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In Vitro Recombination and Mutagenesis of DNA : SOEing Together Tailor-Made Genes

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Intracellular folding of tissue-type plasminogen activator. Effects of disulfide bond formation on N-linked glycosylation and secretion

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