Lista de obras -

A 3 months mild functional test regime does not affect disease parameters in young mdx mice.

artículo científico publicado en 2010

Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes

artículo científico publicado en 2017

Aggregate distribution in frontal and motor cortex in Huntington's disease brain

artículo científico publicado en 2006

Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type

artículo científico

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

artículo científico publicado en 2017

Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3.

artículo científico publicado en 2016

Antisense oligonucleotides in therapy for neurodegenerative disorders

artículo científico

Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain

artículo científico

Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain

artículo científico publicado en 2013

Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies

artículo científico publicado en 2013

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon

artículo científico

Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type

artículo científico publicado en 2018

CAG repeat size in the normal HTT allele and age of onset in Huntington's disease

artículo científico publicado en 2011

Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease

artículo científico publicado en 2017

Common disease signatures from gene expression analysis in Huntington's disease human blood and brain

scientific article published on August 2016

Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection

artículo científico publicado en 2009

Delivery is key: lessons learnt from developing splice-switching antisense therapies

artículo científico publicado en 2017

Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients

artículo científico publicado en 2018

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates

artículo científico publicado en 2017

Elevated brain iron is independent from atrophy in Huntington's Disease

artículo científico publicado en 2012

Exploring the transcriptome of ciliated cells using in silico dissection of human tissues

artículo científico publicado en 2012

Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient

artículo científico publicado en 2018

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

artículo científico publicado en 2018

Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease

scientific article published on 12 July 2019

Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology

scientific article published on 17 October 2020

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

scientific article published on 28 August 2019

Huntingtin gene repeat size variations affect risk of lifetime depression

artículo científico publicado en 2017

Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex.

artículo científico publicado en 2016

Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood

artículo científico publicado en 2015

In silico discovery and experimental validation of new protein-protein interactions

artículo científico publicado en 2011

Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain

artículo científico publicado en 2003

Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA.

artículo científico publicado en 2012

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

artículo científico publicado en 2002

Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington's disease peripheral blood samples

artículo científico publicado en 2016

Intracerebroventricular Administration of a 2'-O-Methyl Phosphorothioate Antisense Oligonucleotide Results in Activation of the Innate Immune System in Mouse Brain

artículo científico publicado en 2018

Making (anti-) sense out of huntingtin levels in Huntington disease

artículo científico publicado en 2015

Molecular investigation of TBP allele length: a SCA17 cellular model and population study

artículo científico publicado en 2003

Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease

artículo científico publicado en 2008

Overview on applications of antisense-mediated exon skipping

artículo científico

Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification

artículo científico publicado en 2013

Selection and characterization of llama single domain antibodies against N-terminal huntingtin

artículo científico publicado en 2014

Striosomes and mood dysfunction in Huntington's disease.

artículo científico publicado en 2006

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

artículo científico publicado en 2004

TGFβ pathway deregulation and abnormal phospho-SMAD2/3 staining in hereditary cerebral hemorrhage with amyloidosis-Dutch type

artículo científico publicado en 2017

Targeting several CAG expansion diseases by a single antisense oligonucleotide

artículo científico publicado en 2011

The dynamics of early-state transcriptional changes and aggregate formation in a Huntington's disease cell model

artículo científico publicado en 2017

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model

artículo científico publicado en 2018

Underlying molecular mechanisms of DIO2 susceptibility in symptomatic osteoarthritis

artículo científico publicado en 2014

Lista de obras de

A 3 months mild functional test regime does not affect disease parameters in young mdx mice.

Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes

Aggregate distribution in frontal and motor cortex in Huntington's disease brain

Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3.

Antisense oligonucleotides in therapy for neurodegenerative disorders

Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain

Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain

Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon

Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type

CAG repeat size in the normal HTT allele and age of onset in Huntington's disease

Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease

Common disease signatures from gene expression analysis in Huntington's disease human blood and brain

Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection

Delivery is key: lessons learnt from developing splice-switching antisense therapies

Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates

Elevated brain iron is independent from atrophy in Huntington's Disease

Exploring the transcriptome of ciliated cells using in silico dissection of human tissues

Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease

Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

Huntingtin gene repeat size variations affect risk of lifetime depression

Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex.

Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood

In silico discovery and experimental validation of new protein-protein interactions

Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain

Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA.

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

Integration of targeted metabolomics and transcriptomics identifies deregulation of phosphatidylcholine metabolism in Huntington's disease peripheral blood samples

Intracerebroventricular Administration of a 2'-O-Methyl Phosphorothioate Antisense Oligonucleotide Results in Activation of the Innate Immune System in Mouse Brain

Making (anti-) sense out of huntingtin levels in Huntington disease

Molecular investigation of TBP allele length: a SCA17 cellular model and population study

Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease

Overview on applications of antisense-mediated exon skipping

Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification

Selection and characterization of llama single domain antibodies against N-terminal huntingtin

Striosomes and mood dysfunction in Huntington's disease.

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

TGFβ pathway deregulation and abnormal phospho-SMAD2/3 staining in hereditary cerebral hemorrhage with amyloidosis-Dutch type

Targeting several CAG expansion diseases by a single antisense oligonucleotide

The dynamics of early-state transcriptional changes and aggregate formation in a Huntington's disease cell model

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model

Underlying molecular mechanisms of DIO2 susceptibility in symptomatic osteoarthritis