Výsledky vyhledávání - "Christoph, Bachmann"

Akademický článek

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors

Autor: Alexis Ruiz, Sofia Benucci, Urs Duthaler, Christoph Bachmann, Martina Franchini, Faiza Noreen, Laura Pietrangelo, Feliciano Protasi, Susan Treves, Francesco Zorzato

Publikováno v: eLife, Vol 11 (2022)

To date there are no therapies for patients with congenital myopathies, muscle disorders causing poor quality of life of affected individuals. In approximately 30% of the cases, patients with congenital myopathies carry either dominant or recessive m

Externí odkaz: https://doaj.org/article/b1a6c6efb1f14c3480eb8053a31a9386

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Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

Autor: Christoph, Bachmann, Martina, Franchini, Luuk R, Van den Bersselaar, Nick, Kruijt, Nicol C, Voermans, Karlijn, Bouman, Erik-Jan, Kamsteeg, Karl Christian, Knop, Lucia, Ruggiero, Lucio, Santoro, Yoram, Nevo, Jo, Wilmshurst, John, Vissing, Michael, Sinnreich, Daniele, Zorzato, Francesco, Muntoni, Heinz, Jungbluth, Francesco, Zorzato, Susan, Treves

Publikováno v: Brain communications. 4(5)

Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients typically relies on histopathological

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0ebdb728deff8bffb4b902f2432e35ba
https://pubmed.ncbi.nlm.nih.gov/36196089

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Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors

Autor: Feliciano Protasi, Christoph Bachmann, Susan Treves, Urs Duthaler, Faiza Noreen, Martina Franchini, Sofia Benucci, Alexis Ruiz, Laura Pietrangelo, Francesco Zorzato

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eb1894f224d9a72e8fbfbf93340e073a
https://doi.org/10.1101/2021.11.09.467894

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Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations

Autor: Adnan Y. Manzur, Heinz Jungbluth, Christoph Bachmann, Francesco Muntoni, Francesco Zorzato, Susan Treves

Publikováno v: Bachmann, C, Jungbluth, H, Muntoni, F, Manzur, A Y, Zorzato, F & Treves, S 2016, ' Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations ', Human Molecular Genetics, vol. 26, no. 2, pp. 32-332 . https://doi.org/10.1093/hmg/ddw388

Centronuclear myopathies are early-onset muscle diseases caused by mutations in several genes including MTM1, DNM2, BIN1, RYR1 and TTN The most severe and often fatal X-linked form of myotubular myopathy (XLMTM) is caused by mutations in the gene enc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fedd2c9e2fd387c4a980aea5a4b71da
http://doc.rero.ch/record/331258/files/HMG_26_2_320.pdf

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Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors

Autor: Alexis, Ruiz, Sofia, Benucci, Urs, Duthaler, Christoph, Bachmann, Martina, Franchini, Faiza, Noreen, Laura, Pietrangelo, Feliciano, Protasi, Susan, Treves, Francesco, Zorzato

Publikováno v: eLife. 11

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3ede2532479e8d29b650c6ad8f840b91
https://pubmed.ncbi.nlm.nih.gov/35238775

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Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength

Autor: Jan Eckhardt, Pawel Pelczar, Ahmed Alhussni, Thomas M. Humberstone, Christoph Bachmann, Susan Treves, Rebecca Sitsapesan, Alexis Ruiz, Abigail D. Wilson, Simona Boncompagni, Laura Pietrangelo, Elisa Venturi, Moran Elbaz, Francesco Zorzato, Chris Lindsay

Publikováno v: Human Molecular Genetics. 28:2987-2999

Recessive ryanodine receptor 1 (RYR1) mutations cause congenital myopathies including multiminicore disease (MmD), congenital fiber-type disproportion and centronuclear myopathy. We created a mouse model knocked-in for the Q1970fsX16+A4329D RYR1 muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0f238d432c7964b8980160ef0f06dde
https://doi.org/10.1093/hmg/ddz092

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Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice

Autor: Susan Treves, Sven Nicolay, Pawel Pelczar, Moran Elbaz, Alexis Ruiz, Chiara Tupini, Francesco Zorzato, Jan Eckhardt, Christoph Bachmann, Sofia Benucci

Publikováno v: J Biol Chem

Mutations in the ryanodine receptor 1 (RYR1) gene are associated with several human congenital myopathies, including the dominantly inherited central core disease and exercise-induced rhabdomyolysis, and the more severe recessive phenotypes, includin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6603a5984fc35de0e2e7e7b170439eec
https://europepmc.org/articles/PMC7383393/

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Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations

Autor: Francesco Zorzato, Jan Eckhardt, Moran Elbaz, Alexis Ruiz, Christoph Bachmann, Susan Treves, Sofia Benucci

Mutations in the RYR1 gene are the most common cause of human congenital myopathies, and patients with recessive mutations are severely affected and often display ptosis and/or ophthalmoplegia. In order to gain insight into the mechanism leading to e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60299c111426a91fe47b3239c08f23f4
https://hdl.handle.net/11392/2497173

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