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

author name string

Raymond P Boot-Handford

series ordinal

2

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20 August 2017

Shireen R Lamandé

series ordinal

3

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20 August 2017

language of work or name

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1 March 2009

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20 August 2017

published in

Nature Reviews Genetics

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20 August 2017

volume

10

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20 August 2017

issue

3

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20 August 2017

page(s)

173-183

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The biology of the small leucine-rich proteoglycans. Functional network of interactive proteins

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

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

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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

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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.

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

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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.

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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

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

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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

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

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

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

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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

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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.

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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

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

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Signal integration in the endoplasmic reticulum unfolded protein response

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

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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

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

31 March 2020

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

31 March 2020

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Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways

31 March 2020

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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

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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

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

31 March 2020

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

31 March 2020

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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

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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

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

31 March 2020

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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

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

31 March 2020

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

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Emerging therapeutic approaches for osteogenesis imperfecta

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Potential of mesenchymal stem cell therapy

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Novel therapeutic strategies for the treatment of protein-misfolding diseases

31 March 2020

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Therapeutic approaches to protein-misfolding diseases

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

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

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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

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

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

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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Versatility of the endoplasmic reticulum protein folding factory

31 March 2020

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ERAD: the long road to destruction

31 March 2020

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Endoplasmic reticulum stress: a new pathway to induce autophagy.

31 March 2020

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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

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12 December 2020

Clinical and Molecular genetics of Stickler syndrome

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12 December 2020

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

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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

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12 December 2020

Identifiers

DOI

10.1038/NRG2520

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20 August 2017

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