List of works - Willeke M. C. van Roon-Mom

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

scientific article published on 21 March 2010

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

scientific article published on 25 May 2017

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

scientific article published in April 2006

Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type

scientific article published on January 2014

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

scientific article published on 29 June 2017

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

scientific article

Antisense oligonucleotides in therapy for neurodegenerative disorders

scientific article published on 20 March 2015

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

scientific article published on 19 July 2011

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

scientific article

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

scientific article

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

scientific article published on 06 May 2013

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

scientific article

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

scientific article

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

scientific article published on 30 November 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

scientific article

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

scientific article

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

scientific article published on 13 March 2018

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 14 December 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.

scientific article

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

scientific article published on 11 December 2017

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

scientific article published on 25 December 2016

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

scientific article

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

scientific article (publication date: 31 January 2011)

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

scientific article

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

scientific article

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

scientific article published in December 2002

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

scientific article published on 27 July 2016

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

scientific article

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

scientific article published on 28 April 2015

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

scientific article published on June 2003

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

scientific article published on 9 October 2008

Overview on applications of antisense-mediated exon skipping

scientific article published on January 2012

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

scientific article published on 31 December 2013

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

scientific article

Striosomes and mood dysfunction in Huntington's disease.

scientific article

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

scientific article

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

scientific article published on 29 May 2017

Targeting several CAG expansion diseases by a single antisense oligonucleotide

scientific article (publication date: 2011)

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

scientific article

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

scientific article published on 22 June 2018

Underlying molecular mechanisms of DIO2 susceptibility in symptomatic osteoarthritis

scientific article published on 2 April 2014

List of works by Willeke M. C. van Roon-Mom

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