Article
A common pathomechanism in GMAP-210- and LBR-related diseases.
JCI insight - 6 Dec 2018
Wehrle Anika, Witkos Tomasz M, Schneider Judith C, Hoppmann Anselm, Behringer Sidney, Köttgen Anna, Elting Mariet, Spranger Jürgen, Lowe Martin, Lausch Ekkehart
Abstract excerpt
Biallelic loss-of-function mutations in TRIP11, encoding the golgin GMAP-210, cause the lethal human chondrodysplasia achondrogenesis 1A (ACG1A). We now find that a homozygous splice-site mutation of the lamin B receptor (LBR) gene results in the same phenotype. Intrigued by the genetic heterogeneity, we compared GMAP-210- and LBR-deficient primary cells to unravel how particular mutations in LBR cause a...
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