Accès ouvert
2024
article
OpenAlex
Jolanda M.P. Liefhebber, Giso Brasser, Elisabeth A. Spronck, Roelof Ottenhoff et autres
We developed a novel adeno-associated virus 5 gene therapy (AAV5-GLA) expressing human alpha-galactosidase A (GLA) under the control of a novel, small and strong, liver-restricted promoter. We assessed the preclinical potential of AAV5-GLA for treating Fabry disease, an X-linked hereditary metabolic disorder …
nl
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Accès ouvert
2024
conference-abstract
OpenAlex
Leontien van der Bent, Melvin M. Evers, Astrid Vallès
Huntington’s disease (HD) exhibits a complex molecular phenotype, including significant transcriptional and splicing dysregulation. While splicing dysregulation is known to play a critical role in other repeat expansion disorders such as myotonic dystrophy type 1, its conservation across HD models remains to …
nl
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Accès ouvert
2024
article
OpenAlex
Marina Sogorb-González, Christian Landles, Nicholas S. Caron, Anouk Stam et autres
Huntington's disease (HD) is a fatal neurodegenerative disease caused by a trinucleotide repeat expansion in exon 1 of the huntingtin gene (HTT) that results in toxic gain of function and cell death. Despite its monogenic cause, the pathogenesis of HD is highly …
nl, gb, ca, us
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Accès ouvert
2024
article
OpenAlex
Irena Bočkaj, Anna Moreno Garcia, Pablo de Miguel Herraiz, Sonay Keskin et autres
, allowing more efficient downregulation of their disease-causing mRNA targets. This approach supports the development of multi-targeting therapeutic strategies, enabling gene therapy products to adapt to more complex multigenic indications, thus expanding the toolbox of readily available gene therapies.
nl
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Accès ouvert
2022
article
OpenAlex
Sarah B. Thomson, Anouk Stam, Cynthia C. Brouwers, Valentina Fodale et autres
Huntingtin (HTT)-lowering therapies show great promise in treating Huntington's disease. We have developed a microRNA targeting human HTT that is delivered in an adeno-associated serotype 5 viral vector (AAV5-miHTT), and here use animal behaviour, MRI, non-invasive proton magnetic resonance spectroscopy and striatal …
ca, nl, it, us
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Accès ouvert
2022
article
OpenAlex
Adithya Sridhar, Josse A. Depla, Lance Mulder, Eveliina Karelehto et autres
Recent outbreaks of enterovirus D68, a nonpolio enterovirus, is associated with a serious neurological condition in young children, acute flaccid myelitis (AFM). As there is no antiviral treatment or vaccine available for EV-D68 it is important to better understand how EV-D68 causes …
nl
(code pays fourni par la source)
2022
conference-abstract
OpenAlex
Leontien van der Bent, Cynthia C. Brouwers, Robin Pocornie, Anouk Stam et autres
Background Huntingtin (HTT)-lowering gene therapies are being evaluated in clinical trials. We have previously shown that one-time intrastriatal administration of an adeno-associated viral vector serotype 5 encoding an engineered miRNA (AAV5-miHTT) targeting human mutant huntingtin (mHTT) protein leads to sustained CSF mHTT …
nl, cz
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Accès ouvert
2022
article
OpenAlex
M. Leontien van der Bent, Melvin M. Evers, Astrid Vallès
Abstract: Huntington’s disease is a devastating heritable neurodegenerative disorder that is caused by the presence of a trinucleotide CAG repeat expansion in the Huntingtin gene, leading to a polyglutamine tract in the protein. Various mechanisms lead to the production of N-terminal Huntingtin …
nl
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Accès ouvert
2022
preprint
OpenAlex
Adithya Sridhar, Josse A. Depla, Lance Mulder, Eveliina Karelehto et autres
EV-D68 heparan sulfate binding in HAE and brain organoid cultures.
nl
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Accès ouvert
2022
article
OpenAlex
Josse A. Depla, Lance Mulder, Renata Vieira de Sá, Morgane Wartel et autres
Pathogenesis of viral infections of the central nervous system (CNS) is poorly understood, and this is partly due to the limitations of currently used preclinical models. Brain organoid models can overcome some of these limitations, as they are generated from human derived …
nl
(code pays fourni par la source)
Accès ouvert
2022
preprint
OpenAlex
Adithya Sridhar, Josse A. Depla, Lance Mulder, Eveliina Karelehto et autres
EV-D68 heparan sulfate binding in HAE and brain organoid cultures.
nl
(code pays fourni par la source)
Accès ouvert
2022
preprint
OpenAlex
Adithya Sridhar, Josse A. Depla, Lance Mulder, Eveliina Karelehto et autres
EV-D68 heparan sulfate binding in HAE and brain organoid cultures.
nl
(code pays fourni par la source)