List of works - Elia Di Schiavi

A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome.

scientific article

A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN

scientific article published on 03 November 2020

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

scientific article published on 20 February 2019

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

scientific article

Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis

scientific article published on 17 November 2018

Antinematode activity of Violacein and the role of the insulin/IGF-1 pathway in controlling violacein sensitivity in Caenorhabditis elegans

scientific article

Automated screening of C. elegans neurodegeneration mutants enabled by microfluidics and image analysis algorithms

scientific article published on 01 September 2018

C. elegans expressing D76N β2-microglobulin: a model for in vivo screening of drug candidates targeting amyloidosis

scientific article published on 27 December 2019

Caenorhabditis elegans employs innate and learned aversion in response to bacterial toxic metabolites tambjamine and violacein

scientific article published on 07 July 2016

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

scientific article published on 01 March 2022

Correction: Antinematode Activity of Violacein and the Role of the Insulin/IGF-1 Pathway in Controlling Violacein Sensitivity in Caenorhabditis elegans

scientific article published in PLoS ONE

Efficient and cell specific knock-down of gene function in targeted C. elegans neurons.

scientific article published on 19 March 2007

Evaluation of Burkholderia cepacia Complex Bacteria Pathogenicity Using Caenorhabditis elegans

scientific article published on October 2016

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

scientific article published on 17 January 2018

Green kiwifruit extracts protect motor neurons from death in a spinal muscular atrophy model in Caenorhabditis elegans

scientific article published on 17 June 2019

Invertebrate models of kallmann syndrome: molecular pathogenesis and new disease genes.

scientific article published on March 2013

Investigating the Role of the Host Multidrug Resistance Associated Protein Transporter Family in Burkholderia cepacia Complex Pathogenicity Using a Caenorhabditis elegans Infection Model

scientific article published on 20 November 2015

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

scientific article published on 01 February 2019

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

scientific article

Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism

scientific article (publication date: 15 June 2016)

Optofluidic holographic microscopy with custom field of view (FoV) using a linear array detector.

scientific article published on May 2015

Silencing of Syntaxin 1A in the Dopaminergic Neurons Decreases the Activity of the Dopamine Transporter and Prevents Amphetamine-Induced Behaviors in C. elegans.

scientific article published on 22 May 2018

TGS1 impacts snRNA 3′-end processing, ameliorates <i>survival motor neuron</i>-dependent neurological phenotypes <i>in vivo</i> and prevents neurodegeneration

scientific article published in 2022

The C. elegans H3K27 demethylase UTX-1 is essential for normal development, independent of its enzymatic activity

scientific article (publication date: 2012)

The G protein regulators EGL-10 and EAT-16, the Giα GOA-1 and the G(q)α EGL-30 modulate the response of the C. elegans ASH polymodal nociceptive sensory neurons to repellents

scientific article

UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons

scientific journal article

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models.

scientific article

List of works by Elia Di Schiavi

A Caenorhabditis elegans model to study dopamine transporter deficiency syndrome.

A Single Amino Acid Residue Regulates PTEN-Binding and Stability of the Spinal Muscular Atrophy Protein SMN

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis

Antinematode activity of Violacein and the role of the insulin/IGF-1 pathway in controlling violacein sensitivity in Caenorhabditis elegans

Automated screening of C. elegans neurodegeneration mutants enabled by microfluidics and image analysis algorithms

C. elegans expressing D76N β2-microglobulin: a model for in vivo screening of drug candidates targeting amyloidosis

Caenorhabditis elegans employs innate and learned aversion in response to bacterial toxic metabolites tambjamine and violacein

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

Correction: Antinematode Activity of Violacein and the Role of the Insulin/IGF-1 Pathway in Controlling Violacein Sensitivity in Caenorhabditis elegans

Efficient and cell specific knock-down of gene function in targeted C. elegans neurons.

Evaluation of Burkholderia cepacia Complex Bacteria Pathogenicity Using Caenorhabditis elegans

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Green kiwifruit extracts protect motor neurons from death in a spinal muscular atrophy model in Caenorhabditis elegans

Invertebrate models of kallmann syndrome: molecular pathogenesis and new disease genes.

Investigating the Role of the Host Multidrug Resistance Associated Protein Transporter Family in Burkholderia cepacia Complex Pathogenicity Using a Caenorhabditis elegans Infection Model

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism

Optofluidic holographic microscopy with custom field of view (FoV) using a linear array detector.

Silencing of Syntaxin 1A in the Dopaminergic Neurons Decreases the Activity of the Dopamine Transporter and Prevents Amphetamine-Induced Behaviors in C. elegans.

TGS1 impacts snRNA 3′-end processing, ameliorates <i>survival motor neuron</i>-dependent neurological phenotypes <i>in vivo</i> and prevents neurodegeneration

The C. elegans H3K27 demethylase UTX-1 is essential for normal development, independent of its enzymatic activity

The G protein regulators EGL-10 and EAT-16, the Giα GOA-1 and the G(q)α EGL-30 modulate the response of the C. elegans ASH polymodal nociceptive sensory neurons to repellents

UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models.