Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

S Polling, AR Ormsby, RJ Wood, K Lee… - Nature structural & …, 2015 - nature.com
Polyglutamine (polyGln) expansions in nine human proteins result in neurological diseases
and induce the proteins' tendency to form β-rich amyloid fibrils and intracellular deposits …

Knockout mouse models of Hirschsprung's disease

J Zimmer, P Puri - Pediatric surgery international, 2015 - Springer
Purpose Hirschsprung's disease (HSCR) is a developmental disorder of the enteric nervous
system, which occurs due to the failure of neural crest cell migration. Rodent animal models …

Key role of amino acid repeat expansions in the functional diversification of duplicated transcription factors

N Radó-Trilla, K Arató, C Pegueroles… - Molecular biology …, 2015 - academic.oup.com
The high regulatory complexity of vertebrates has been related to two rounds of whole
genome duplication (2R-WGD) that occurred before the divergence of the major vertebrate …

Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells

E Di Zanni, D Fornasari, R Ravazzolo… - Experimental cell …, 2015 - Elsevier
PHOX2B is a transcription factor involved in the regulation of neurogenesis and in the
correct differentiation of the autonomic nervous system. The pathogenetic role of PHOX2B in …