List of works - Eleonora Di Zanni

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

scientific article published on November 2010

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

scientific article published on 31 October 2012

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

scientific article

Ceftriaxone has a therapeutic role in Alexander disease

scientific article published on 27 November 2009

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

scientific article published on 19 April 2017

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

scientific article published in November 2007

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

scientific article

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

scientific article published on 13 April 2015

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

scientific article published on 21 September 2011

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

scientific article published on 21 May 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.

scientific article

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.

scientific article published on 4 February 2012

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

scientific article published on 23 May 2017

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

scientific article published on 09 March 2011

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

scientific article

List of works by Eleonora Di Zanni

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

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

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

Ceftriaxone has a therapeutic role in Alexander disease

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

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

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

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

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

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

Lifting the veils on TMEM16E function

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

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

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

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

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

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