Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Nicolas, Wein"'
Autor:
Liubov V. Gushchina, Adrienne J. Bradley, Tatyana A. Vetter, Jacob W. Lay, Natalie L. Rohan, Emma C. Frair, Nicolas Wein, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101144- (2023)
Duchenne muscular dystrophy (DMD) is a progressive X-linked disease caused by mutations in the DMD gene that prevent the expression of a functional dystrophin protein. Exon duplications represent 6%–11% of mutations, and duplications of exon 2 (Dup
Externí odkaz:
https://doaj.org/article/1dee77955bc4458f84bf563a278aee74
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Schwann cells (SCs) have a critical role in the peripheral nervous system. These cells are able to support axons during homeostasis and after injury. However, mutations in genes associated with the SCs repair program or myelination result in dysfunct
Externí odkaz:
https://doaj.org/article/744188c911fb42019718e215196981c9
Autor:
Liubov V. Gushchina, Tatyana A. Vetter, Emma C. Frair, Adrienne J. Bradley, Kelly M. Grounds, Jacob W. Lay, Nianyuan Huang, Aisha Suhaiba, Frederick J. Schnell, Gunnar Hanson, Tabatha R. Simmons, Nicolas Wein, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 30, Iss , Pp 479-492 (2022)
Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of motor and cardiorespiratory function. Four exon-skipping approaches using antisense phospho
Externí odkaz:
https://doaj.org/article/c58f1dc6613c474f8ea734b55a626d47
Autor:
Nicolas Wein, Tatyana A. Vetter, Adeline Vulin, Tabatha R. Simmons, Emma C. Frair, Adrienne J. Bradley, Liubov V. Gushchina, Camila F. Almeida, Nianyuan Huang, Daniel Lesman, Dhanarajan Rajakumar, Robert B. Weiss, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 279-293 (2022)
Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD reading frame, but nonsense mutations in the 5′ part of the gene induce utilization of an internal ribosomal entry site (IRES) in exon 5, driving expression of
Externí odkaz:
https://doaj.org/article/937ffb28cf15459caaa9793b8cebec7b
Autor:
Camila F. Almeida, Florence Robriquet, Tatyana A. Vetter, Nianyuan Huang, Reid Neinast, Lumariz Hernandez-Rosario, Dhanarajan Rajakumar, W. David Arnold, Kim L. McBride, Kevin M. Flanigan, Robert B. Weiss, Nicolas Wein
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults and affects mainly the skeletal muscle, heart, and brain. DM1 is caused by a CTG repeat expansion in the 3′UTR region of the DMPK gene that sequesters musclebli
Externí odkaz:
https://doaj.org/article/64f77f1950614b9e88620a368751f95d
Autor:
Tabatha R. Simmons, Tatyana A. Vetter, Nianyuan Huang, Adeline Vulin-Chaffiol, Nicolas Wein, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss , Pp 325-340 (2021)
Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating mutations in the DMD gene. Current exon-skipping therapies have sought to treat deletion mutations
Externí odkaz:
https://doaj.org/article/6912488c4ecd404facb01ca8c3e269ec
Autor:
Afrooz Rashnonejad, Gholamhossein Amini-Chermahini, Noah K. Taylor, Nicolas Wein, Scott Q. Harper
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 23, Iss , Pp 476-486 (2021)
Facioscapulohumeral muscular dystrophy (FSHD) arises from epigenetic changes that de-repress the DUX4 gene in muscle. The full-length DUX4 protein causes cell death and muscle toxicity, and therefore we hypothesize that FSHD therapies should center o
Externí odkaz:
https://doaj.org/article/69e3df8c0b8b4176b6d912000436a430
Autor:
Inès Barthélémy, Nadège Calmels, Robert B. Weiss, Laurent Tiret, Adeline Vulin, Nicolas Wein, Cécile Peccate, Carole Drougard, Christophe Beroud, Nathalie Deburgrave, Jean-Laurent Thibaud, Catherine Escriou, Isabel Punzón, Luis Garcia, Jean-Claude Kaplan, Kevin M. Flanigan, France Leturcq, Stéphane Blot
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-22 (2020)
Abstract Background Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but th
Externí odkaz:
https://doaj.org/article/4db5e8aca9c9431692a8b17b3323ddbf
Autor:
Megan A. Waldrop, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Livja Medne, Richard Finkel, Anne M. Connolly, Thomas O. Crawford, Daniel Drachman, Nicolas Wein, Ali A. Habib, Monika A. Krzesniak‐Swinarska, Craig M. Zaidman, James J. Collins, Manu Jokela, Bjarne Udd, John W. Day, Gloria Ortiz‐Guerrero, Jeff Statland, Russell J. Butterfield, Diane M. Dunn, Robert B. Weiss, Kevin M. Flanigan
Publikováno v:
Hum Mutat
Human mutation, vol 43, iss 4
Human mutation, vol 43, iss 4
DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are deep intronic and analysis of muscle-derived RNA is an
Autor:
Shrestha Sinha Ray, Debdeep Dutta, Cassandra Dennys, Samantha Powers, Florence Roussel, Pawel Lisowski, Petar Glažar, Xiaojin Zhang, Pipasha Biswas, Joseph R. Caporale, Nikolaus Rajewsky, Marc Bickle, Nicolas Wein, Hugo J. Bellen, Shibi Likhite, Paul C. Marcogliese, Kathrin C. Meyer
The recently discovered neurological disorder NEDAMSS is caused by heterozygous truncations in the transcriptional regulator IRF2BPL. Here, we reprogram patient skin fibroblasts to astrocytes and neurons to study mechanisms of this newly described di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7a92ef0092fbfc6fcdde4c2fadba3fb
http://edoc.mdc-berlin.de/22947/1/22947oa.pdf
http://edoc.mdc-berlin.de/22947/1/22947oa.pdf