List of works - Stefano Gustincich

A caspase-3-cleaved fragment of the glial glutamate transporter EAAT2 is sumoylated and targeted to promyelocytic leukemia nuclear bodies in mutant SOD1-linked amyotrophic lateral sclerosis

scientific article published on 6 September 2007

A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number-dependent manner

scientific article published on 31 January 2020

A promoter-level mammalian expression atlas

scientific article

A proteomic approach to the bilirubin-induced toxicity in neuronal cells reveals a protective function of DJ-1 protein

scientific article

A transcriptome analysis identifies molecular effectors of unconjugated bilirubin in human neuroblastoma SH-SY5Y cells

scientific article

APE1/Ref-1 regulates PTEN expression mediated by Egr-1

scientific article

Adhesion to carbon nanotube conductive scaffolds forces action-potential appearance in immature rat spinal neurons

scientific article

An NMR-based approach reveals the core structure of the functional domain of SINEUP lncRNAs

scientific article published on 22 July 2020

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

scientific article (publication date: 5 December 2002)

Analysis of the mouse transcriptome for genes involved in the function of the nervous system.

scientific article

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

scientific article published on 04 January 2019

Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction

scientific article

Blood transcriptomics of drug-naïve sporadic Parkinson's disease patients

scientific article published on 28 October 2015

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances

publication published on 18 February 2021

Characterization of caspase-dependent and caspase-independent deaths in glioblastoma cells treated with inhibitors of the ubiquitin-proteasome system

scientific article

ClusterScan: simple and generalistic identification of genomic clusters

scientific article published on 01 November 2018

Conformational ensembles of an RNA hairpin using molecular dynamics and sparse NMR data

scientific article published on 01 February 2020

Corrigendum: Genome-wide analysis of mammalian promoter architecture and evolution

scholarly article published in Nature Genetics

Defined α-synuclein prion-like molecular assemblies spreading in cell culture

scientific article

Developmental influence of the cellular prion protein on the gene expression profile in mouse hippocampus

scientific article published on 15 March 2011

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

scientific article published on 15 May 2014

Effects of Pin1 Loss in Hdh(Q111) Knock-in Mice.

scientific article published on 2 May 2016

Engineering Translation in Mammalian Cell Factories to Increase Protein Yield: The Unexpected Use of Long Non-Coding SINEUP RNAs

scientific article

Engineering mammalian cell factories with SINEUP noncoding RNAs to improve translation of secreted proteins

scientific article published on 2 June 2015

Exploratory analysis of transposable elements expression in the C. elegans early embryo

scientific article published on 22 November 2019

Expression analysis of the long non-coding RNA antisense to Uchl1 (AS Uchl1) during dopaminergic cells' differentiation in vitro and in neurochemical models of Parkinson's disease

scientific article

Expression of circadian clock genes in retinal dopaminergic cells

scientific article published on 01 July 2007

FANTOM5 CAGE profiles of human and mouse samples

scientific article published on 29 August 2017

Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer

scientific article

Form deprivation modulates retinal neurogenesis in primate experimental myopia

scholarly article

Functional genomics reveals dysregulation of cortical olfactory receptors in Parkinson disease: novel putative chemoreceptors in the human brain

scientific article

Gene discovery in genetically labeled single dopaminergic neurons of the retina

scholarly article

Gene expression analysis of the emergence of epileptiform activity after focal injection of kainic acid into mouse hippocampus

scientific article published on October 2010

Gene expression profiling and therapeutic interventions in neurodegenerative diseases: a comprehensive study on potentiality and limits ⬇️

scientific article published on February 13, 2012

Genome-wide analysis of mammalian promoter architecture and evolution

scientific article (publication date: June 2006)

Genome-wide detection and analysis of hippocampus core promoters using DeepCAGE.

scientific article

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

scientific article

Hemoglobin is present as a canonical α2β2 tetramer in dopaminergic neurons.

scientific article published on 17 May 2013

Huntingtin polyQ Mutation Impairs the 17β-Estradiol/Neuroglobin Pathway Devoted to Neuron Survival.

scientific article published on 12 December 2016

Identification of antisense long noncoding RNAs that function as SINEUPs in human cells

scientific article published on 20 September 2016

Identification of functional features of synthetic SINEUPs, antisense lncRNAs that specifically enhance protein translation

scientific article published on 7 February 2018

Identification of novel proteins binding the AU-rich element of α-prothymosin mRNA through the selection of open reading frames (RIDome).

scientific article published on 29 October 2015

Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data

scientific article published on 22 November 2019

Inhibition of alpha-synuclein fibrillization by dopamine is mediated by interactions with five C-terminal residues and with E83 in the NAC region

scientific article

Isoforms of the Erythropoietin receptor in dopaminergic neurons of the Substantia Nigra

scientific article

Linking promoters to functional transcripts in small samples with nanoCAGE and CAGEscan

scientific article

Long non-coding antisense RNA controls Uchl1 translation through an embedded SINEB2 repeat.

scientific article

Mesencephalic dopaminergic neurons express a repertoire of olfactory receptors and respond to odorant-like molecules

scientific article

Modulation of alpha-synuclein aggregation by dopamine analogs

scientific article

Motor neuron impairment mediated by a sumoylated fragment of the glial glutamate transporter EAAT2

scientific article published on 18 July 2011

NanoCAGE analysis of the mouse olfactory epithelium identifies the expression of vomeronasal receptors and of proximal LINE elements

scientific article

Neuronal hemoglobin affects dopaminergic cells' response to stress

scientific article published on 05 January 2017

Neuronal hemoglobin is reduced in Alzheimer's disease, argyrophilic grain disease, Parkinson's disease, and dementia with Lewy bodies.

scientific article published in January 2011

Olfactory Receptors in Non-Chemosensory Organs: The Nervous System in Health and Disease

scientific article

On the oligomeric state of DJ-1 protein and its mutants associated with Parkinson Disease. A combined computational and in vitro study.

scientific article published on 15 May 2007

ParkDB: a Parkinson's disease gene expression database

scientific article

Parkinson disease-associated DJ-1 is required for the expression of the glial cell line-derived neurotrophic factor receptor RET in human neuroblastoma cells.

scientific article published on 15 April 2010

Parkinson's disease DJ-1 L166P alters rRNA biogenesis by exclusion of TTRAP from the nucleolus and sequestration into cytoplasmic aggregates via TRAF6

scientific article

Promoter architecture of mouse olfactory receptor genes

scientific journal article

Redox state, oxidative stress, and molecular mechanisms of protective and toxic effects of bilirubin on cells.

scientific article published on January 2009

SINEUP Non-coding RNA Targeting GDNF Rescues Motor Deficits and Neurodegeneration in a Mouse Model of Parkinson's Disease

scientific article published on 16 August 2019

SINEUP long non-coding RNA acts via PTBP1 and HNRNPK to promote translational initiation assemblies

scientific article published on 02 November 2020

SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia

scientific article published on 01 November 2019

SINEUPs are modular antisense long non-coding RNAs that increase synthesis of target proteins in cells.

scientific article published on 13 May 2015

Ser46 phosphorylation and prolyl-isomerase Pin1-mediated isomerization of p53 are key events in p53-dependent apoptosis induced by mutant huntingtin.

scientific article published on 19 October 2011

Somatic retrotransposition alters the genetic landscape of the human brain

scientific article (publication date: 30 October 2011)

Spontaneous Activity of Solitary Dopaminergic Cells of the Retina ⬇️

scientific article published on September 1, 1998

Structural determinants of the SINE B2 element embedded in the long non-coding RNA activator of translation AS Uchl1.

scientific article published on 16 February 2018

Structural role of compensatory amino acid replacements in the α-synuclein protein.

scientific article

Suppression of artifacts and barcode bias in high-throughput transcriptome analyses utilizing template switching

scientific article published on 24 November 2012

Synthetic in vitro transcribed lncRNAs (SINEUPs) with chemical modifications enhance target mRNA translation

scientific article published on 04 October 2020

Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo

scientific article published on 06 June 2016

TRAF6 promotes atypical ubiquitination of mutant DJ-1 and alpha-synuclein and is localized to Lewy bodies in sporadic Parkinson's disease brains.

scientific article published on 14 July 2010

Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia

scientific article

The RNA-binding protein ILF3 binds to transposable element sequences in SINEUP lncRNAs

scientific article published on 25 October 2019

The Yin and Yang of nucleic acid-based therapy in the brain

scientific article

The complexity of the mammalian transcriptome

scientific article published on 20 July 2006

Tumor necrosis factor receptor-associated factor 6 (TRAF6) associates with huntingtin protein and promotes its atypical ubiquitination to enhance aggregate formation.

scientific article published on 25 March 2011

Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells

scientific article

List of works by Stefano Gustincich

A caspase-3-cleaved fragment of the glial glutamate transporter EAAT2 is sumoylated and targeted to promyelocytic leukemia nuclear bodies in mutant SOD1-linked amyotrophic lateral sclerosis

A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number-dependent manner

A promoter-level mammalian expression atlas

A proteomic approach to the bilirubin-induced toxicity in neuronal cells reveals a protective function of DJ-1 protein

A transcriptome analysis identifies molecular effectors of unconjugated bilirubin in human neuroblastoma SH-SY5Y cells

APE1/Ref-1 regulates PTEN expression mediated by Egr-1

Adhesion to carbon nanotube conductive scaffolds forces action-potential appearance in immature rat spinal neurons

An NMR-based approach reveals the core structure of the functional domain of SINEUP lncRNAs

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

Analysis of the mouse transcriptome for genes involved in the function of the nervous system.

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction

Blood transcriptomics of drug-naïve sporadic Parkinson's disease patients

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances

Characterization of caspase-dependent and caspase-independent deaths in glioblastoma cells treated with inhibitors of the ubiquitin-proteasome system

ClusterScan: simple and generalistic identification of genomic clusters

Conformational ensembles of an RNA hairpin using molecular dynamics and sparse NMR data

Corrigendum: Genome-wide analysis of mammalian promoter architecture and evolution

Defined α-synuclein prion-like molecular assemblies spreading in cell culture

Developmental influence of the cellular prion protein on the gene expression profile in mouse hippocampus

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

Effects of Pin1 Loss in Hdh(Q111) Knock-in Mice.

Engineering Translation in Mammalian Cell Factories to Increase Protein Yield: The Unexpected Use of Long Non-Coding SINEUP RNAs

Engineering mammalian cell factories with SINEUP noncoding RNAs to improve translation of secreted proteins

Exploratory analysis of transposable elements expression in the C. elegans early embryo

Expression analysis of the long non-coding RNA antisense to Uchl1 (AS Uchl1) during dopaminergic cells' differentiation in vitro and in neurochemical models of Parkinson's disease

Expression of circadian clock genes in retinal dopaminergic cells

FANTOM5 CAGE profiles of human and mouse samples

Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer

Form deprivation modulates retinal neurogenesis in primate experimental myopia

Functional genomics reveals dysregulation of cortical olfactory receptors in Parkinson disease: novel putative chemoreceptors in the human brain

Gene discovery in genetically labeled single dopaminergic neurons of the retina

Gene expression analysis of the emergence of epileptiform activity after focal injection of kainic acid into mouse hippocampus

Gene expression profiling and therapeutic interventions in neurodegenerative diseases: a comprehensive study on potentiality and limits ⬇️

Genome-wide analysis of mammalian promoter architecture and evolution

Genome-wide detection and analysis of hippocampus core promoters using DeepCAGE.

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

Hemoglobin is present as a canonical α2β2 tetramer in dopaminergic neurons.

Huntingtin polyQ Mutation Impairs the 17β-Estradiol/Neuroglobin Pathway Devoted to Neuron Survival.

Identification of antisense long noncoding RNAs that function as SINEUPs in human cells

Identification of functional features of synthetic SINEUPs, antisense lncRNAs that specifically enhance protein translation

Identification of novel proteins binding the AU-rich element of α-prothymosin mRNA through the selection of open reading frames (RIDome).

Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data

Inhibition of alpha-synuclein fibrillization by dopamine is mediated by interactions with five C-terminal residues and with E83 in the NAC region

Isoforms of the Erythropoietin receptor in dopaminergic neurons of the Substantia Nigra

Linking promoters to functional transcripts in small samples with nanoCAGE and CAGEscan

Long non-coding antisense RNA controls Uchl1 translation through an embedded SINEB2 repeat.

Mesencephalic dopaminergic neurons express a repertoire of olfactory receptors and respond to odorant-like molecules

Modulation of alpha-synuclein aggregation by dopamine analogs

Motor neuron impairment mediated by a sumoylated fragment of the glial glutamate transporter EAAT2

NanoCAGE analysis of the mouse olfactory epithelium identifies the expression of vomeronasal receptors and of proximal LINE elements

Neuronal hemoglobin affects dopaminergic cells' response to stress

Neuronal hemoglobin is reduced in Alzheimer's disease, argyrophilic grain disease, Parkinson's disease, and dementia with Lewy bodies.

Olfactory Receptors in Non-Chemosensory Organs: The Nervous System in Health and Disease

On the oligomeric state of DJ-1 protein and its mutants associated with Parkinson Disease. A combined computational and in vitro study.

ParkDB: a Parkinson's disease gene expression database

Parkinson disease-associated DJ-1 is required for the expression of the glial cell line-derived neurotrophic factor receptor RET in human neuroblastoma cells.

Parkinson's disease DJ-1 L166P alters rRNA biogenesis by exclusion of TTRAP from the nucleolus and sequestration into cytoplasmic aggregates via TRAF6

Promoter architecture of mouse olfactory receptor genes

Redox state, oxidative stress, and molecular mechanisms of protective and toxic effects of bilirubin on cells.

SINEUP Non-coding RNA Targeting GDNF Rescues Motor Deficits and Neurodegeneration in a Mouse Model of Parkinson's Disease

SINEUP long non-coding RNA acts via PTBP1 and HNRNPK to promote translational initiation assemblies

SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia

SINEUPs are modular antisense long non-coding RNAs that increase synthesis of target proteins in cells.

Ser46 phosphorylation and prolyl-isomerase Pin1-mediated isomerization of p53 are key events in p53-dependent apoptosis induced by mutant huntingtin.

Somatic retrotransposition alters the genetic landscape of the human brain

Spontaneous Activity of Solitary Dopaminergic Cells of the Retina ⬇️

Structural determinants of the SINE B2 element embedded in the long non-coding RNA activator of translation AS Uchl1.

Structural role of compensatory amino acid replacements in the α-synuclein protein.

Suppression of artifacts and barcode bias in high-throughput transcriptome analyses utilizing template switching

Synthetic in vitro transcribed lncRNAs (SINEUPs) with chemical modifications enhance target mRNA translation

Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo

TRAF6 promotes atypical ubiquitination of mutant DJ-1 and alpha-synuclein and is localized to Lewy bodies in sporadic Parkinson's disease brains.

Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia

The RNA-binding protein ILF3 binds to transposable element sequences in SINEUP lncRNAs

The Yin and Yang of nucleic acid-based therapy in the brain

The complexity of the mammalian transcriptome

Tumor necrosis factor receptor-associated factor 6 (TRAF6) associates with huntingtin protein and promotes its atypical ubiquitination to enhance aggregate formation.

Unexpected expression of alpha- and beta-globin in mesencephalic dopaminergic neurons and glial cells