(Q46751935)

24 December 2017

title

Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells (English)

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24 December 2017

Sorsby's fundus dystrophy

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4

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24 December 2017

author name string

Kevin P Langton

1

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24 December 2017

Norman McKie

2

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24 December 2017

Brenda M Smith

3

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24 December 2017

Michael D Barker

5

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24 December 2017

publication date

13 October 2005

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24 December 2017

published in

Human Molecular Genetics

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24 December 2017

volume

14

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24 December 2017

issue

23

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24 December 2017

page(s)

3579-3586

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24 December 2017

A fundus dystrophy with unusual features

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1 reference

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Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism

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Risk factors for age-related macular degeneration

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The N-terminal domain of tissue inhibitor of metalloproteinases retains metalloproteinase inhibitory activity

21 January 2018

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Characterization of the functional domain of tissue inhibitor of metalloproteinases-2 (TIMP-2).

21 January 2018

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Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation

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Full-length and N-TIMP-3 display equal inhibitory activities toward TNF-alpha convertase

21 January 2018

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Sorsby's fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells

21 January 2018

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A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

21 January 2018

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Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

21 January 2018

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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

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21 January 2018

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Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy

21 January 2018

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Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix

21 January 2018

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Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa

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TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy.

21 January 2018

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ARPE-19, a human retinal pigment epithelial cell line with differentiated properties

21 January 2018

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Matrix metalloproteinases in angiogenesis: a moving target for therapeutic intervention

21 January 2018

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The soluble catalytic domain of membrane type 1 matrix metalloproteinase cleaves the propeptide of progelatinase A and initiates autoproteolytic activation. Regulation by TIMP-2 and TIMP-3.

21 January 2018

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Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis

21 January 2018

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Regulation of membrane-type matrix metalloproteinase 1 activity by dynamin-mediated endocytosis

21 January 2018

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Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis.

21 January 2018

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Role of the 21-kDa protein TIMP-3 in oncogenic transformation of cultured chicken embryo fibroblasts

21 January 2018

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Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration

21 January 2018

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Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations

21 January 2018

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Genetics. Was the Human Genome Project worth the effort?

21 January 2018

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Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis.

21 January 2018

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Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.

21 January 2018

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The role of oxidative stress in the pathogenesis of age-related macular degeneration.

21 January 2018

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Sick chaperones and ageing: a perspective

21 January 2018

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Endoplasmic reticulum dysfunction--a common denominator for cell injury in acute and degenerative diseases of the brain?

21 January 2018

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21 January 2018

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TIMP-3 binds to sulfated glycosaminoglycans of the extracellular matrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI385

21 January 2018

Identifiers

DOI

10.1093/HMG/DDI385

1 reference

24 December 2017

1 reference

24 December 2017