Lista de obras - Maurizio Romano - Dominio Público Uruguay

A novel Drosophila model of TDP-43 proteinopathies: N-terminal sequences combined with the Q/N domain induce protein functional loss and locomotion defects

artículo científico publicado en 2016

A novel anti-aldolase C antibody specifically interacts with residues 85-102 of the protein

artículo científico publicado en 2014

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

artículo científico publicado en 2007

An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.

artículo científico publicado en 2004

Antimycobacterial activity of new N(1)-[1-[1-aryl-3-[4-(1H-imidazol-1-yl)phenyl]-3-oxo]propyl]-pyridine-2-carboxamidrazone derivatives

artículo científico publicado en 2016

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

artículo científico publicado en 2022

Complex splicing control of the human Thrombopoietin gene by intronic G runs

artículo científico publicado en 2006

Computer-assisted design, synthesis, binding and cytotoxicity assessments of new 1-(4-(aryl(methyl)amino)butyl)-heterocyclic sigma 1 ligands.

artículo científico publicado en 2016

Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts

artículo científico publicado en 2020

Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.

artículo científico publicado en 2005

Drosophila Answers to TDP-43 Proteinopathies

artículo científico publicado en 2012

Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

artículo científico publicado en 2018

Essential role of hippocampal noradrenaline in the regulation of spatial working memory and tdp-43 tissue pathology.

artículo científico publicado en 2018

Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways

artículo científico publicado en 2015

Expression and characterization of recombinant human eosinophil peroxidase. Impact of the R286H substitution on the biosynthesis and activity of the enzyme

artículo científico publicado en 2000

Florbetapir F 18 for brain imaging of β-amyloid plaques

artículo científico publicado en 2013

Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.

artículo científico publicado en 2000

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

artículo científico publicado en 2009

G runs in cystathionine beta-synthase c.833C/c.844_845ins68 mRNA are splicing silencers of pathogenic 3' splice sites

artículo científico publicado en 2010

Genetic characterization of myeloperoxidase deficiency in Italy

artículo científico publicado en 2004

Genetic heterogeneity in Malattia Leventinese

artículo científico publicado en 2002

Genetic studies on myeloperoxidase deficiency in Italy.

artículo científico publicado en 2004

Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease

artículo científico publicado en 2002

Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect

artículo científico publicado en 1994

Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function

artículo científico publicado en 2005

Identification and Subcellular Localization of Neuronal Calcium Sensor-1 (NCS-1) in Human Neutrophils and HL-60 Cells

scientific article published on 01 December 2003

Keratin14 mRNA expression in human pneumocytes during quiescence, repair and disease

artículo científico publicado en 2017

Knockdown of MVK does not lead to changes in NALP3 expression or activation

artículo científico publicado en 2015

Minor role for BRCA2 (exon11) and p53 (exon 5-9) among Sudanese breast cancer patients

artículo científico publicado en 2002

Neuropeptides in saliva of subjects with burning mouth syndrome: a pilot study

scientific article published on 09 March 2010

New neurogenic lipoic-based hybrids as innovative Alzheimer's drugs with σ-1 agonism and β-secretase inhibition.

artículo científico publicado en 2016

New piperidine-based derivatives as sigma receptor ligands. Synthesis and pharmacological evaluation

artículo científico publicado en 2018

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

artículo científico publicado en 2001

Nuclear factor TDP-43 can affect selected microRNA levels

artículo científico publicado en 2010

Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine beta-synthase gene in great apes.

artículo científico publicado en 2008

Photodynamic therapy of subfoveal choroidal neovascularization secondary to reticular pattern dystrophy: three-year results of an uncontrolled, prospective case series

scientific article published on 01 June 2006

Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene.

artículo científico publicado en 2002

RhoGAPp190: A potential player in tbph-mediated neurodegeneration in Drosophila.

artículo científico publicado en 2018

Role of pseudoexons and pseudointrons in human cancer.

artículo científico

Role of the Long Non-Coding RNA Growth Arrest-Specific 5 in Glucocorticoid Response in Children with Inflammatory Bowel Disease.

artículo científico publicado en 2017

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

artículo científico publicado en 2000

Systematic Analysis of Gene Expression Profiles Controlled by hnRNP Q and hnRNP R, Two Closely Related Human RNA Binding Proteins Implicated in mRNA Processing Mechanisms

article

TBPH/TDP-43 modulates translation of Drosophila futsch mRNA through an UG-rich sequence within its 5'UTR.

artículo científico publicado en 2016

TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways

artículo científico publicado en 2015

TDP-43 high throughput screening analyses in neurodegeneration: advantages and pitfalls

artículo científico

TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization

artículo científico publicado en 2011

TDP-43 regulates its mRNA levels through a negative feedback loop

artículo científico publicado en 2010

The A/G polymorphism in the -78 position of the apolipoprotein A-I promoter does not have a direct effect on transcriptional efficiency

artículo científico publicado en 1998

cDNA clones of myeloperoxidase (MPO) and eosinophil peroxidase (EPO) from human blood mononuclear cells differentiated into granulocyte precursors in liquid cultures

artículo científico publicado en 1992

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes

artículo científico publicado en 2004

Lista de obras de Maurizio Romano

A novel Drosophila model of TDP-43 proteinopathies: N-terminal sequences combined with the Q/N domain induce protein functional loss and locomotion defects

A novel anti-aldolase C antibody specifically interacts with residues 85-102 of the protein

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.

Antimycobacterial activity of new N(1)-[1-[1-aryl-3-[4-(1H-imidazol-1-yl)phenyl]-3-oxo]propyl]-pyridine-2-carboxamidrazone derivatives

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

Complex splicing control of the human Thrombopoietin gene by intronic G runs

Computer-assisted design, synthesis, binding and cytotoxicity assessments of new 1-(4-(aryl(methyl)amino)butyl)-heterocyclic sigma 1 ligands.

Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts

Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene.

Drosophila Answers to TDP-43 Proteinopathies

Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

Essential role of hippocampal noradrenaline in the regulation of spatial working memory and tdp-43 tissue pathology.

Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways

Expression and characterization of recombinant human eosinophil peroxidase. Impact of the R286H substitution on the biosynthesis and activity of the enzyme

Florbetapir F 18 for brain imaging of β-amyloid plaques

Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

G runs in cystathionine beta-synthase c.833C/c.844_845ins68 mRNA are splicing silencers of pathogenic 3' splice sites

Genetic characterization of myeloperoxidase deficiency in Italy

Genetic heterogeneity in Malattia Leventinese

Genetic studies on myeloperoxidase deficiency in Italy.

Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease

Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect

Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function

Identification and Subcellular Localization of Neuronal Calcium Sensor-1 (NCS-1) in Human Neutrophils and HL-60 Cells

Keratin14 mRNA expression in human pneumocytes during quiescence, repair and disease

Knockdown of MVK does not lead to changes in NALP3 expression or activation

Minor role for BRCA2 (exon11) and p53 (exon 5-9) among Sudanese breast cancer patients

Neuropeptides in saliva of subjects with burning mouth syndrome: a pilot study

New neurogenic lipoic-based hybrids as innovative Alzheimer's drugs with σ-1 agonism and β-secretase inhibition.

New piperidine-based derivatives as sigma receptor ligands. Synthesis and pharmacological evaluation

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

Nuclear factor TDP-43 can affect selected microRNA levels

Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine beta-synthase gene in great apes.

Photodynamic therapy of subfoveal choroidal neovascularization secondary to reticular pattern dystrophy: three-year results of an uncontrolled, prospective case series

Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene.

RhoGAPp190: A potential player in tbph-mediated neurodegeneration in Drosophila.

Role of pseudoexons and pseudointrons in human cancer.

Role of the Long Non-Coding RNA Growth Arrest-Specific 5 in Glucocorticoid Response in Children with Inflammatory Bowel Disease.

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

Systematic Analysis of Gene Expression Profiles Controlled by hnRNP Q and hnRNP R, Two Closely Related Human RNA Binding Proteins Implicated in mRNA Processing Mechanisms

TBPH/TDP-43 modulates translation of Drosophila futsch mRNA through an UG-rich sequence within its 5'UTR.

TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways

TDP-43 high throughput screening analyses in neurodegeneration: advantages and pitfalls

TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization

TDP-43 regulates its mRNA levels through a negative feedback loop

The A/G polymorphism in the -78 position of the apolipoprotein A-I promoter does not have a direct effect on transcriptional efficiency

cDNA clones of myeloperoxidase (MPO) and eosinophil peroxidase (EPO) from human blood mononuclear cells differentiated into granulocyte precursors in liquid cultures

hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes