CRIS
Permanent URI for this communityhttps://investigadores.udd.cl/handle/123456789/1
Browse
4 results
Search Results
Now showing 1 - 4 of 4
- Some of the metrics are blocked by yourconsent settings
Item type:Publication, DOORS syndrome: Phenotype, genotype and comparison with coffin-siris syndrome(2014)Scopus© Citations 37 24 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Functional hemichannels formed by human connexin 26 expressed in bacteria(2015); Luis Reuss<jats:p>Gap-junction channels (GJCs) communicate the cytoplasm of adjacent cells and are formed by head-to-head association of two hemichannels (HCs), one from each of the neighbouring cells. GJCs mediate electrical and chemical communication between cells, whereas undocked HCs participate in paracrine signalling because of their permeability to molecules such as ATP. Sustained opening of HCs under pathological conditions results in water and solute fluxes that cannot be compensated by membrane transport and therefore lead to cell damage. Mutations of Cx26 (connexin 26) are the most frequent cause of genetic deafness and it is therefore important to understand the structure–function relationship of wild-type and deafness-associated mutants. Currently available connexin HC expression systems severely limit the pace of structural studies and there is no simple high-throughput HC functional assay. The Escherichia coli-based expression system presented in the present study yields milligram amounts of purified Cx26 HCs suitable for functional and structural studies. We also show evidence of functional activity of recombinant Cx26 HCs in intact bacteria using a new growth complementation assay. The E. coli-based expression system has high potential for structural studies and high-throughput functional screening of HCs.</jats:p>7Scopus© Citations 14 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness(2016)12Scopus© Citations 15 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The genetic basis of DOORS syndrome: an exome-sequencing study(2014)13Scopus© Citations 213