HACE1 deficiency leads to structural and functional neurodevelopmental defects.

Vanja NagyRonja HollsteinTsung-Pin PaiMichel K HerdePisanu BuphamalaiPaul MoesenederEwelina LenartowiczAnoop KavirayaniGeorg Christoph KorenkeIvona KozieradzkiRoberto NitschAna CicvaricFrancisco J Monje QuirogaMatthew A DeardorffEmma C BedoukianYun LiGökhan YigitJ Formula See Text Rg MencheE Ferda PerçinBernd WollnikChristian HennebergerFrank J KaiserJosef M Penninger

Published in: Neurology. Genetics (2019)

Our results provide a first animal model to dissect this complex human disease syndrome, establishing the first causal proof that a HACE1 deficiency results in decreased synapse number and structural and behavioral neuropathologic features that resemble SPPRS patients.

Keyphrases

end stage renal disease
endothelial cells
newly diagnosed
ejection fraction
chronic kidney disease
peritoneal dialysis
replacement therapy
case report
patient reported
congenital heart disease