Cited by 656Retinal Development and DisordersRetinal Diseases and TreatmentsProtease and Inhibitor Mechanisms

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

Weber, Bernhard H. F., Vogt, Gudrun, Pruett, Ronald C., Stöhr, Heidi, Felbor, Ute·1994·Nature Genetics

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Abstract

The hereditary macular dystrophies are progressive degenerations of the central retina and contribute significantly to irreversible visual loss in developed countries. Among these disorders, Sorsby's fundus dystrophy (SFD), an autosomal dominant condition, provides an excellent mendelian model for the study of the genetically complex age-related macular degeneration (AMD), the most common maculopathy in the elderly. Recently, we mapped the SFD locus to 22q13-qter. This same region contains the gene for tissue inhibitor of metalloproteinases-3 (TIMP3), which is known to play a pivotal role in extracellular matrix remodeling. We have now identified point mutations in the TIMP3 gene in affected members of two SFD pedigrees. These mutations are predicted to disrupt the tertiary structure and thus the functional properties of the mature protein.

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Authors: Weber, B. H. F., Vogt, G., Pruett, R. C., Stöhr, H., & Felbor, U.
Affiliations: University of Würzburg (DE)
ORCID: Weber, Bernhard H. F.
Stöhr, Heidi
Felbor, Ute
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1994-12
Volume: 8
Issue: 4
Pages: 352-356
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1294-352
OpenAlex: W1990509128
Cited by: 656
References: 33
Citations by year: 2026: 3 · 2025: 9 · 2024: 10 · 2023: 11 · 2022: 11 · 2021: 12 · 2020: 11 · 2019: 13 · 2018: 12 · 2017: 20 · 2016: 11 · 2015: 13 · 2014: 14 · 2013: 17 · 2012: 16
FWCI: 15.19
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
University of Regensburg Publication Server (University of Regensburg) (submittedVersion)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Protease and Inhibitor Mechanisms
Keywords: Sorsby's fundus dystrophy, TIMP-3, point mutations, hereditary macular dystrophy, autosomal dominant inheritance, extracellular matrix remodeling, protein tertiary structure, age-related macular degeneration, gene mapping
MeSH terms: Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 22, Exons, Female, Humans, Macular Degeneration, Male, Metalloendopeptidases, Molecular Sequence Data, Neoplasm Proteins, Pedigree, Polymorphism, Genetic, Point Mutation, Tissue Inhibitor of Metalloproteinase-3

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

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