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List of works by Mercedes Prudencio

A novel variant of human superoxide dismutase 1 harboring amyotrophic lateral sclerosis-associated and experimental mutations in metal-binding residues and free cysteines lacks toxicity in vivo

scientific article published on 20 March 2012

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

scientific article

An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1 ⬇️

scientific article published on September 24, 2010

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

scientific article published on 20 July 2015

Distinctive features of the D101N and D101G variants of superoxide dismutase 1; two mutations that produce rapidly progressing motor neuron disease

scientific article published on 21 October 2013

Features of wild-type human SOD1 limit interactions with misfolded aggregates of mouse G86R Sod1.

scientific article published on 17 December 2013

Heterochromatin anomalies and double-stranded RNA accumulation underlie poly(PR) toxicity

article

Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.

scientific article

Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor

scientific article published on 10 December 2012

Modulation of mutant superoxide dismutase 1 aggregation by co-expression of wild-type enzyme

scientific article

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

scientific article published on March 2017

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

scientific article published on 25 June 2018

Prognostic performance of blood neurofilament light chain protein in hospitalized COVID-19 patients without major central nervous system manifestations: an individual participant data meta-analysis

scientific article published in 2023

Progranulin: An emerging target for FTLD therapies ⬇️

scientific article published on January 28, 2012

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

scientific article published on 29 October 2013

Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS

scholarly article

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

scientific article

Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states

scientific article published on 17 November 2011

TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway.

scientific article

TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A

scientific article published on 23 February 2022

The Pathological Phenotypes of Human TDP-43 Transgenic Mouse Models Are Independent of Downregulation of Mouse Tdp-43 ⬇️

scientific article published on July 26, 2013

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

scientific article published on 01 October 2020

Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD

scientific article published on 20 May 2019

Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.

scientific article published on 30 May 2009

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