Lista de obras -

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

artículo científico

Colocalisation of the protein tyrosine phosphatases PTP-SL and PTPBR7 with beta4-adaptin in neuronal cells

artículo científico publicado en 2002

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Epitope mapping of monoclonal antibody 4C8 recognizing the protein huntingtin

artículo científico publicado en 2005

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

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

Mutant huntingtin represses CBP, but not p300, by binding and protein degradation

scientific journal article

Mutant huntingtin represses CBP, but not p300, by binding and protein degradation

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Small N-terminal mutant huntingtin fragments, but not wild type, are mainly present in monomeric form: Implications for pathogenesis

artículo científico publicado en 2005

Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells

artículo científico publicado en 2002

Targeting several CAG expansion diseases by a single antisense oligonucleotide

artículo científico publicado en 2011

Underlying molecular mechanisms of DIO2 susceptibility in symptomatic osteoarthritis

artículo científico publicado en 2014

Lista de obras de

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

Colocalisation of the protein tyrosine phosphatases PTP-SL and PTPBR7 with beta4-adaptin in neuronal cells

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

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

Epitope mapping of monoclonal antibody 4C8 recognizing the protein huntingtin

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

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

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

Mutant huntingtin represses CBP, but not p300, by binding and protein degradation

Mutant huntingtin represses CBP, but not p300, by binding and protein degradation

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

Small N-terminal mutant huntingtin fragments, but not wild type, are mainly present in monomeric form: Implications for pathogenesis

Strong aggregation and increased toxicity of polyleucine over polyglutamine stretches in mammalian cells

Targeting several CAG expansion diseases by a single antisense oligonucleotide

Underlying molecular mechanisms of DIO2 susceptibility in symptomatic osteoarthritis