perlecan

A heparin sulfate-rich proteoglycan (MW 600,000) located in the lamina densa of the basal lamina. It is associated with the structural organization and the filtering function of the basal lamina.

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Often, a given patient has 2 different types of mutations, 1 of which allows a greater production of functional perlecan protein than the other.

However, the findings by Stum et al should be important tools to help find correlations among genetic variants, perlecan forms and levels, and clinical subtypes.

The investigators developed perlecan knock-in mice to model SJS.

An additional point of interest related to perlecan is that another disease, called dyssegmental dysplasia of the Silverman-Handmaker type (DDSH), is also caused by a recessive mutation of the perlecan gene.

Therefore, whereas in SJS types IA and IB some level of functional (and often even normal) perlecan protein is always produced, in DDSH, none is produced.

Schwartz-Jampel Syndrome (SJS) a rare entity: case report

Perlecan, basal lamina proteoglycan, promotes basic fibroblast growth factor-receptor binding, mitogenesis, and angiogenesis.

Lycium barbarum glycoconjugates: effect on human skin and cultured dermal fibroblasts

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