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List of works by Maria Pennuto

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

scientific article published on 09 August 2019

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

scientific article

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

scientific article published in February 2008

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

scientific article published in December 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.

scientific article published on 10 May 2017

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

scientific article published on 24 January 2017

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

scientific article published on 20 January 2018

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

scientific article published on 10 January 2012

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

scientific article published on 21 May 2010

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

scientific article

Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis

scientific article published on 10 August 2021

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

scientific article published on 01 February 2006

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

scientific article

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

scientific article published on August 2002

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

scientific article

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

scientific article published on 12 March 2016

Huntingtin-mediated axonal transport requires arginine methylation by PRMT6

scientific article published on 01 April 2021

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

scientific article published on 12 August 2014

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

scientific article

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

scientific article

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.

scientific article published on 13 February 2016

Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease).

scientific article published on October 2015

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

scientific article published on June 10, 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

scientific article (publication date: 2 January 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 ⬇️

scientific article published on September 23, 2010

Neurotoxic effects of androgens in spinal and bulbar muscular atrophy.

scientific article published on July 2011

New routes to therapy for spinal and bulbar muscular atrophy.

scientific article published on 19 February 2013

No effect ofARpolyG polymorphism on spinal and bulbar muscular atrophy phenotype

scientific article published on 01 June 2016

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

scientific article published on 26 October 2015

Pharmacological inactivation of the prion protein by targeting a folding intermediate

scientific article published on 12 January 2021

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

scientific article published on 01 January 2018

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

scientific article published on 30 January 2020

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

scientific article published on 31 March 2017

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

scientific article published on April 2009

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

scientific article

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

scientific article published on September 2016

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

scientific article published on 31 October 2013

Serine phosphorylation and arginine methylation at the crossroads to neurodegeneration.

scientific article published on 12 May 2015

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

scientific article

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

scientific article published on 3 October 2003

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

scientific article published on April 2004

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

scientific article published on 4 February 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

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