Filtros de búsqueda

Lista de obras de Eleonora Di Zanni

A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities.

artículo científico publicado en 2010

Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS).

artículo científico publicado en 2012

Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease

artículo científico publicado en 2012

Ceftriaxone has a therapeutic role in Alexander disease

artículo científico publicado en 2009

Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.

artículo científico publicado en 2017

Differential role of NADP+ and NADPH in the activity and structure of GDP-D-mannose 4,6-dehydratase from two chlorella viruses.

artículo científico publicado en 2007

Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

artículo científico publicado en 2017

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

artículo científico publicado en 2015

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins

artículo científico publicado en 2011

In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation

artículo científico publicado en 2010

Lifting the veils on TMEM16E function

scientific article published on 01 December 2019

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.

artículo científico publicado en 2017

TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling

scientific article published on 29 February 2020

The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.

artículo científico publicado en 2012

The signaling lipid phosphatidylinositol-3,5-bisphosphate targets plant CLC-a anion/H+ exchange activity.

artículo científico publicado en 2017

Toward a therapeutic strategy for polyalanine expansions disorders: in vivo and in vitro models for drugs analysis

artículo científico publicado en 2011

miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells

artículo científico publicado en 2015