Zobrazeno 1 - 10
of 1 802
pro vyhledávání: '"A. Aartsma-Rus"'
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Duchenne muscular dystrophy is caused by mutations in the DMD gene, leading to lack of dystrophin. Chronic muscle damage eventually leads to histological alterations in skeletal muscles. The identification of genes and cell types driving tis
Externí odkaz:
https://doaj.org/article/2623cb3ef0f747d5a39ed51554862b41
Autor:
Cyriel S. Olie, Muhammad Riaz, Rebecca Konietzny, Philip D. Charles, Adan Pinto-Fernandez, Szymon M. Kiełbasa, A. Aartsma-Rus, Jelle J. Goeman, Benedikt M. Kessler, Vered Raz
Publikováno v:
iScience, Vol 12, Iss , Pp 318-332 (2019)
Summary: Reduced poly(A)-binding protein nuclear 1 (PABPN1) levels cause aging-associated muscle wasting. PABPN1 is a multifunctional regulator of mRNA processing. To elucidate the molecular mechanisms causing PABPN1-mediated muscle wasting, we compa
Externí odkaz:
https://doaj.org/article/5dae7c2a66fa4fae87860ea79e03a0f4
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-11 (2024)
Abstract Antisense oligonucleotides (ASOs) are incredibly versatile molecules that can be designed to specifically target and modify RNA transcripts to slow down or halt rare genetic disease progression. They offer the potential to target groups of p
Externí odkaz:
https://doaj.org/article/5921451646084845bc63da2e688a2b76
Publikováno v:
RNA Biology, Vol 20, Iss 1, Pp 693-702 (2023)
Mutations in the DMD gene are causative for Duchenne muscular dystrophy (DMD). Antisense oligonucleotide (AON) mediated exon skipping to restore disrupted dystrophin reading frame is a therapeutic approach that allows production of a shorter but func
Externí odkaz:
https://doaj.org/article/24bc75579f454439b33a70bce5092238
Autor:
David Cheerie, Marlen Lauffer, Danique Beijer, Matthis Synofzik, Annemieke Aartsma-Rus, Michael Szego, Kimberly Amburgey, Brian Kalish, James Dowling, Gregory Costain
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101068- (2024)
Externí odkaz:
https://doaj.org/article/da13f9ba7b74444b8558dcca41060f10
Akademický článek
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Akademický článek
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Autor:
Mathilde Doisy, Ophélie Vacca, Claire Fergus, Talia Gileadi, Minou Verhaeg, Amel Saoudi, Thomas Tensorer, Luis Garcia, Vincent P. Kelly, Federica Montanaro, Jennifer E. Morgan, Maaike van Putten, Annemieke Aartsma-Rus, Cyrille Vaillend, Francesco Muntoni, Aurélie Goyenvalle
Publikováno v:
Biomedicines, Vol 11, Iss 12, p 3243 (2023)
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene that disrupt the open reading frame and thus prevent production of functional dystrophin proteins. Recent advances in DMD treatment, notably exon skipping and AAV gene therapy,
Externí odkaz:
https://doaj.org/article/29a1434a711345e993444660698a38fe
Autor:
Alqallaf, Ali, Engelbeen, Sarah, Palo, Angela, Cutrupi, Federico, Tanganyika-de Winter, Christa, Plomp, Jaap, Vaiyapuri, Sakthivel, Aartsma-Rus, Annemieke, Patel, Ketan, van Putten, Maaike
Publikováno v:
In Neuromuscular Disorders May 2022 32(5):419-435
Autor:
Bizot, Flavien, Goossens, Remko, Tensorer, Thomas, Dmitriev, Sergei, Garcia, Luis, Aartsma-Rus, Annemieke, Spitali, Pietro, Goyenvalle, Aurélie
Publikováno v:
In Molecular Therapy - Nucleic Acids November 2022