Lista de obras - Maria Pennuto - Dominio Público Uruguay

241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15-17th February, 2019 Hoofddorp, The Netherlands

artículo científico publicado en 2019

Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy.

artículo científico publicado en 2015

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice

artículo científico publicado en 2008

Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy.

artículo científico publicado en 2016

Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity

article

Altered ionic currents and amelioration by IGF-1 and PACAP in motoneuron-derived cells modelling SBMA.

artículo científico

Androgens affect muscle, motor neuron, and survival in a mouse model of SOD1-related amyotrophic lateral sclerosis

article

Autophagic and Proteasomal Mediated Removal of Mutant Androgen Receptor in Muscle Models of Spinal and Bulbar Muscular Atrophy

scientific article published on 20 August 2019

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes

artículo científico publicado en 2017

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

artículo científico publicado en 2018

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis.

artículo científico publicado en 2012

Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.

artículo científico publicado en 2010

Cell-autonomous and non-cell-autonomous toxicity in polyglutamine diseases

artículo científico publicado en 2011

Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis

artículo científico publicado en 2021

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

artículo científico publicado en 2006

Differential autophagy power in the spinal cord and muscle of transgenic ALS mice.

artículo científico publicado en 2013

Fluorescence resonance energy transfer detection of synaptophysin I and vesicle-associated membrane protein 2 interactions during exocytosis from single live synapses

artículo científico publicado en 2002

From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?

artículo científico publicado en 2017

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

artículo científico publicado en 2016

Huntingtin-mediated axonal transport requires arginine methylation by PRMT6

artículo científico publicado en 2021

Identification and Expression of Acetylcholinesterase in Octopus vulgaris Arm Development and Regeneration: a Conserved Role for ACHE?

artículo científico publicado en 2014

In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy

artículo científico publicado en 2015

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

artículo científico publicado en 2017

Insights into the genetic epidemiology of SBMA: prevalence estimation and multiple founder haplotypes in the Veneto Italian region

article

Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy.

artículo científico publicado en 2016

Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease).

artículo científico

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B ⬇️

artículo científico publicado el 10 de junio de 2012

Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization

scientific article published on 06 December 2019

NGF-dependent and tissue-specific transcription of vgf is regulated by a CREB-p300 and bHLH factor interaction

artículo científico publicado en 2002

NURR1 and ERR1 Modulate the Expression of Genes of a DRD2 Coexpression Network Enriched for Schizophrenia Risk

scientific article published on 06 December 2019

Native Functions of the Androgen Receptor Are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy ⬇️

artículo científico publicado el 23 de septiembre de 2010

Neurotoxic effects of androgens in spinal and bulbar muscular atrophy.

artículo científico publicado en 2011

New routes to therapy for spinal and bulbar muscular atrophy.

artículo científico publicado en 2013

No effect ofARpolyG polymorphism on spinal and bulbar muscular atrophy phenotype

artículo científico publicado en 2016

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

artículo científico publicado en 2015

Pharmacological inactivation of the prion protein by targeting a folding intermediate

artículo científico publicado en 2021

Pituitary Adenylyl Cyclase Activating Polypeptide (PACAP) Signaling and the Cell Cycle Machinery in Neurodegenerative Diseases

artículo científico publicado en 2018

Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism

artículo científico publicado en 2020

Post-translational Modifications and Protein Quality Control in Motor Neuron and Polyglutamine Diseases.

artículo científico publicado en 2017

Post-translational modifications of expanded polyglutamine proteins: impact on neurotoxicity.

artículo científico publicado en 2009

Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.

artículo científico publicado en 2015

Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing.

artículo científico publicado en 2016

Revisiting default mode network function in major depression: evidence for disrupted subsystem connectivity.

artículo científico publicado en 2013

Serine phosphorylation and arginine methylation at the crossroads to neurodegeneration.

artículo científico

Snake presynaptic neurotoxins with phospholipase A2 activity induce punctate swellings of neurites and exocytosis of synaptic vesicles

artículo científico publicado en 2004

Synaptophysin I controls the targeting of VAMP2/synaptobrevin II to synaptic vesicles.

artículo científico publicado en 2003

Synaptophysin: leading actor or walk-on role in synaptic vesicle exocytosis?

artículo científico publicado en 2004

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

artículo científico publicado en 2012

The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case

scientific article published on 01 May 2017

Transforming growth factor beta 1 signaling is altered in the spinal cord and muscle of amyotrophic lateral sclerosis mice and patients

scientific article published on 10 July 2019

Lista de obras de Maria Pennuto

241st ENMC international workshop: Towards a European unifying lab for Kennedy's disease. 15-17th February, 2019 Hoofddorp, The Netherlands

Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy.

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice

Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy.

Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity

Altered ionic currents and amelioration by IGF-1 and PACAP in motoneuron-derived cells modelling SBMA.

Androgens affect muscle, motor neuron, and survival in a mouse model of SOD1-related amyotrophic lateral sclerosis

Autophagic and Proteasomal Mediated Removal of Mutant Androgen Receptor in Muscle Models of Spinal and Bulbar Muscular Atrophy

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis.

Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.

Cell-autonomous and non-cell-autonomous toxicity in polyglutamine diseases

Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

Differential autophagy power in the spinal cord and muscle of transgenic ALS mice.

Fluorescence resonance energy transfer detection of synaptophysin I and vesicle-associated membrane protein 2 interactions during exocytosis from single live synapses

From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?

Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

Huntingtin-mediated axonal transport requires arginine methylation by PRMT6

Identification and Expression of Acetylcholinesterase in Octopus vulgaris Arm Development and Regeneration: a Conserved Role for ACHE?

In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients

Insights into the genetic epidemiology of SBMA: prevalence estimation and multiple founder haplotypes in the Veneto Italian region

Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy.

Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease).

MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B ⬇️

Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization

NGF-dependent and tissue-specific transcription of vgf is regulated by a CREB-p300 and bHLH factor interaction

NURR1 and ERR1 Modulate the Expression of Genes of a DRD2 Coexpression Network Enriched for Schizophrenia Risk

Native Functions of the Androgen Receptor Are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy ⬇️

Neurotoxic effects of androgens in spinal and bulbar muscular atrophy.

New routes to therapy for spinal and bulbar muscular atrophy.

No effect ofARpolyG polymorphism on spinal and bulbar muscular atrophy phenotype

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

Pharmacological inactivation of the prion protein by targeting a folding intermediate

Pituitary Adenylyl Cyclase Activating Polypeptide (PACAP) Signaling and the Cell Cycle Machinery in Neurodegenerative Diseases

Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism

Post-translational Modifications and Protein Quality Control in Motor Neuron and Polyglutamine Diseases.

Post-translational modifications of expanded polyglutamine proteins: impact on neurotoxicity.

Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.

Rescue of Metabolic Alterations in AR113Q Skeletal Muscle by Peripheral Androgen Receptor Gene Silencing.

Revisiting default mode network function in major depression: evidence for disrupted subsystem connectivity.

Serine phosphorylation and arginine methylation at the crossroads to neurodegeneration.

Snake presynaptic neurotoxins with phospholipase A2 activity induce punctate swellings of neurites and exocytosis of synaptic vesicles

Synaptophysin I controls the targeting of VAMP2/synaptobrevin II to synaptic vesicles.

Synaptophysin: leading actor or walk-on role in synaptic vesicle exocytosis?

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

The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case

Transforming growth factor beta 1 signaling is altered in the spinal cord and muscle of amyotrophic lateral sclerosis mice and patients