(Q37389055)

20 August 2017

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title

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations (English)

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20 August 2017

1

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20 August 2017

Raymond P Boot-Handford

series ordinal

2

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PubMed ID

19204719

20 August 2017

Shireen R Lamandé

series ordinal

3

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PubMed ID

19204719

20 August 2017

language of work or name

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1 March 2009

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20 August 2017

Nature Reviews Genetics

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20 August 2017

10

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20 August 2017

173-183

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20 August 2017

3

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https://scigraph.springernature.com/pub.10.1038/nrg2520

20 August 2017

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Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation

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Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

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Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

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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 chondrodysplasia

31 March 2020

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Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene

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Proteasomal degradation of unassembled mutant type I collagen pro-alpha1(I) chains

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Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer

31 March 2020

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Collagen X chains harboring Schmid metaphyseal chondrodysplasia NC1 domain mutations are selectively retained and degraded in stably transfected cells

31 March 2020

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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

31 March 2020

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COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.

31 March 2020

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Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function

31 March 2020

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Type I collagen in Hsp47-null cells is aggregated in endoplasmic reticulum and deficient in N-propeptide processing and fibrillogenesis

31 March 2020

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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

31 March 2020

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Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta.

31 March 2020

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Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI

31 March 2020

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Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome

31 March 2020

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Deposition and selective degradation of structurally-abnormal type I collagen in a collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro

31 March 2020

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Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

31 March 2020

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Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion

31 March 2020

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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

31 March 2020

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Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations

31 March 2020

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Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations

31 March 2020

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Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.

31 March 2020

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Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes

31 March 2020

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The endoplasmic reticulum and the unfolded protein response

31 March 2020

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Intracellular signaling by the unfolded protein response

31 March 2020

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That which does not kill me makes me stronger: adapting to chronic ER stress

31 March 2020

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Signal integration in the endoplasmic reticulum unfolded protein response

31 March 2020

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The unfolded protein response: a stress signaling pathway critical for health and disease.

31 March 2020

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Endoplasmic reticulum stress in health and disease

31 March 2020

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Endoplasmic reticulum stress signaling in disease

31 March 2020

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Endoplasmic reticulum stress in disease pathogenesis

31 March 2020

1 reference

Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia

31 March 2020

1 reference

Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytes

31 March 2020

1 reference

Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways

31 March 2020

1 reference

Mutation (D472Y) in the type 3 repeat domain of cartilage oligomeric matrix protein affects its early vesicle trafficking in endoplasmic reticulum and induces apoptosis

31 March 2020

1 reference

Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP

31 March 2020

1 reference

Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate.

31 March 2020

1 reference

Transgenic mice expressing D469Delta mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations

31 March 2020

1 reference

Expression of PSACH-associated mutant COMP in tendon fibroblasts leads to increased apoptotic cell death irrespective of the secretory characteristics of mutant COMP.

31 March 2020

1 reference

Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation

31 March 2020

1 reference

ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta

31 March 2020

1 reference

Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta

31 March 2020

1 reference

Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis.

31 March 2020

1 reference

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

31 March 2020

1 reference

Emerging therapeutic approaches for osteogenesis imperfecta

31 March 2020

1 reference

Potential of mesenchymal stem cell therapy

31 March 2020

1 reference

Novel therapeutic strategies for the treatment of protein-misfolding diseases

31 March 2020

1 reference

Therapeutic approaches to protein-misfolding diseases

31 March 2020

1 reference

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease

31 March 2020

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Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking

31 March 2020

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Small molecule pharmacological chaperones: From thermodynamic stabilization to pharmaceutical drugs.

31 March 2020

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Endoplasmic reticulum chaperone protein GRP78 protects cells from apoptosis induced by topoisomerase inhibitors: role of ATP binding site in suppression of caspase-7 activation

31 March 2020

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A molecular chaperone inducer protects neurons from ER stress

31 March 2020

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Novel targets for Huntington's disease in an mTOR-independent autophagy pathway

31 March 2020

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Small molecules enhance autophagy and reduce toxicity in Huntington's disease models.

31 March 2020

1 reference

Potential therapeutic applications of autophagy

31 March 2020

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A selective inhibitor of eIF2alpha dephosphorylation protects cells from ER stress

31 March 2020

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The molecular genetics of Marfan syndrome and related disorders

31 March 2020

1 reference

Angiotensin II blockade and aortic-root dilation in Marfan's syndrome

31 March 2020

1 reference

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

31 March 2020

1 reference

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

31 March 2020

1 reference

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

31 March 2020

1 reference

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

31 March 2020

1 reference

Macromolecular specificity of collagen fibrillogenesis: fibrils of collagens I and XI contain a heterotypic alloyed core and a collagen I sheath

31 March 2020

1 reference

Versatility of the endoplasmic reticulum protein folding factory

31 March 2020

1 reference

ERAD: the long road to destruction

31 March 2020

1 reference

Endoplasmic reticulum stress: a new pathway to induce autophagy.

31 March 2020

1 reference

BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta

31 March 2020

1 reference

12 December 2020

Clinical and Molecular genetics of Stickler syndrome

1 reference

12 December 2020

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen

1 reference

12 December 2020

Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRG2520

1 reference

20 August 2017

1 reference

PubMed ID

19204719