Impact of the heparan sulfate proteoglycan perlecan on human disease and health

Perlecan, a basement membrane-type heparan sulfate proteoglycan, is an important molecule in the functional diversity of organisms because of the diversity of its glycan chains and the multifunctionality of its core proteins. Human diseases associated with perlecan have been identified using gene-de...

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Published in:American Journal of Physiology: Cell Physiology 2022-06, Vol.322 (6), p.C1117-C1122
Main Author: Arikawa-Hirasawa, Eri
Format: Article
Language:English
Subjects:
Chromosome 1
Core protein
Dysplasia
Heparan sulfate
HSPG2 gene
Perlecan
Proteoglycans
Therapeutic targets
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description Perlecan, a basement membrane-type heparan sulfate proteoglycan, is an important molecule in the functional diversity of organisms because of the diversity of its glycan chains and the multifunctionality of its core proteins. Human diseases associated with perlecan have been identified using gene-deficient mice. Two human diseases related to perlecan have been reported. One is Silverman-Handmaker type dyssegmental dysplasia, resulting from the complete loss of function of the HSPG2 gene that encodes perlecan core protein, which is mapped to chromosome 1p36. The other is Schwartz-Jampel syndrome resulting from the partial loss of function of the gene. Subsequent in vivo and in vitro studies have revealed the organ-specific functions of perlecan, suggesting its involvement in the pathogenesis of various human diseases. In this review, we discuss the role of perlecan in human diseases and summarize our knowledge about perlecan as a future therapeutic target to treat related diseases and for healthy longevity.
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subjects Chromosome 1
Core protein
Dysplasia
Heparan sulfate
HSPG2 gene
Perlecan
Proteoglycans
Therapeutic targets
title Impact of the heparan sulfate proteoglycan perlecan on human disease and health
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