Eleonora Di Zanni

Eleonora Di Zanni

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Eleonora Di Zanni

Eleonora Di Zanni

Publications by authors named "Eleonora Di Zanni"

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18Publications

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

Hum Mutat 2020 Jun 18;41(6):1157-1170. Epub 2020 Mar 18.

Institute of Biophysics, Consiglio Nazionale delle Ricerche, Genova, Italy.

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http://dx.doi.org/10.1002/humu.24006DOI Listing
June 2020

Lifting the veils on TMEM16E function.

Channels (Austin) 2019 12;13(1):33-35

a Institute of Biophysics , Consiglio Nazionale delle Ricerche (CNR) , Genova , Italy.

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http://dx.doi.org/10.1080/19336950.2018.1557470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380213PMC
December 2019

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

Cell Mol Life Sci 2018 05 9;75(9):1657-1670. Epub 2017 Nov 9.

Institute of Biophysics, Consiglio Nazionale delle Ricerche, Via de Marini 6, 16149, Genova, Italy.

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http://dx.doi.org/10.1007/s00018-017-2704-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5897490PMC
May 2018

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

Biochim Biophys Acta Mol Basis Dis 2017 07 20;1863(7):1770-1777. Epub 2017 Apr 20.

UOC Genetica Medica, Istituto Giannina Gaslini, 16148, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2017.04.017DOI Listing
July 2017

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

EMBO Rep 2017 07 23;18(7):1100-1107. Epub 2017 May 23.

Institute of Biophysics, Consiglio Nazionale delle Ricerche, Genova, Italy

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http://dx.doi.org/10.15252/embr.201643814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494527PMC
July 2017

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

Exp Cell Res 2015 Aug 13;336(1):43-57. Epub 2015 Apr 13.

U.O.C. Genetica Medica, Istituto Giannina Gaslini, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yexcr.2015.03.025DOI Listing
August 2015

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

Biochim Biophys Acta 2015 Aug 3;1849(8):1057-65. Epub 2015 Jul 3.

UOC Genetica Medica, Istituto Giannina Gaslini, 16147 Genova, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18749399150013
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http://dx.doi.org/10.1016/j.bbagrm.2015.06.008DOI Listing
August 2015

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

Exp Cell Res 2012 Sep 15;318(15):1844-54. Epub 2012 Jun 15.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Via Gerolamo Gaslini, 5, 16148 Genova, Italy.

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http://dx.doi.org/10.1016/j.yexcr.2012.06.008DOI Listing
September 2012

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

Neurobiol Dis 2012 Jan 21;45(1):508-18. Epub 2011 Sep 21.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Largo G. Gaslini 5, 16148 Genova, Italy.

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http://dx.doi.org/10.1016/j.nbd.2011.09.007DOI Listing
January 2012

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

Eur J Paediatr Neurol 2011 Sep 9;15(5):449-52. Epub 2011 Mar 9.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2011.02.005DOI Listing
September 2011

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

J Biol Chem 2008 Jan 1;283(1):184-93. Epub 2007 Nov 1.

Department of Experimental Medicine, University of Genoa and Center of Excellence for Biomedical Research, Viale Benedetto XV 1, 16132 Genoa, Italy.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M706614200
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http://dx.doi.org/10.1074/jbc.M706614200DOI Listing
January 2008