Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Autor: Rainiero Ávila-Polo, Edoardo Malfatti, Xavière Lornage, Chrystel Cheraud, Isabelle Nelson, Juliette Nectoux, Johann Böhm, Raphaël Schneider, Carola Hedberg-Oldfors, Bruno Eymard, Soledad Monges, Fabiana Lubieniecki, Guy Brochier, Mai Thao Bui, Angeline Madelaine, Clémence Labasse, Maud Beuvin, Emmanuelle Lacène, Anne Boland, Jean-François Deleuze, Julie Thompson, Isabelle Richard, Ana Lía Taratuto, Bjarne Udd, France Leturcq, Gisèle Bonne, Anders Oldfors, Jocelyn Laporte, Norma Beatriz Romero

Publikováno v: Journal of Neuropathology and Experimental Neurology
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2018, 77 (12), pp.1101-1114. ⟨10.1093/jnen/nly095⟩
Journal of Neuropathology and Experimental Neurology, 2018, 77 (12), pp.1101-1114. ⟨10.1093/jnen/nly095⟩

International audience; Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ad0b86ea5e37032cbac966746df42b0
https://pubmed.ncbi.nlm.nih.gov/30365001

Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo : application to titin

Autor: Isabelle Richard, Laurence Suel, Céline Becker, Karine Charton, Miguel Taillepierre, Sara F Henriques, Matteo Bovolenta, Jean Paul Moussu, Karelia Lipson

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (20), pp.ddw280. ⟨10.1093/hmg/ddw280⟩
Human Molecular Genetics, 2016, 25 (20), pp.ddw280. ⟨10.1093/hmg/ddw280⟩

International audience; The giant protein titin is the third most abundant protein in striated muscle. Mutations in its gene are responsible for diseases affecting the cardiac and/or the skeletal muscle. Titin has been reported to be expressed in mul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1438861bd25579427edacf0b1841af53
https://hal.archives-ouvertes.fr/hal-02333092

TC10 controls human myofibril organization and is activated by the sarcomeric RhoGEF obscurin

Autor: Annick Bourret, Olivia Touzet, Robert A. Hipskind, Marjorie Coisy-Quivy, Philippe Fort, Jacques Mercier, Alexandre Philips

Publikováno v: Journal of Cell Science
Journal of Cell Science, Company of Biologists, 2009, 122 (Pt 7), pp.947-56. 〈10.1242/jcs.040121〉
Journal of Cell Science, Company of Biologists, 2009, 122 (7), pp.947-956. ⟨10.1242/jcs.040121⟩
Journal of Cell Science, Company of Biologists, 2009, 122 (Pt 7), pp.947-56. ⟨10.1242/jcs.040121⟩
Journal of Cell Science, 2009, 122 (Pt 7), pp.947-56. ⟨10.1242/jcs.040121⟩

International audience; The contractile activity of striated muscle depends on myofibrils that are highly ordered macromolecular complexes. The protein components of myofibrils are well characterized, but it remains largely unclear how signaling at t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3f4006e48b1d5b967c8326d734a47a7
https://europepmc.org/articles/PMC2904472/

Double-band sarcomeric SHG pattern induced by adult skeletal muscles alteration during myofibrils preparation

Autor: Recher, Gaëlle, Rouède, Denis, Tascon, Christophe, D'Amico, Laure-Anne, Tiaho, François

Publikováno v: Journal of Microscopy
Journal of Microscopy, 2011, 241 (2), pp.207-11. ⟨10.1111/j.1365-2818.2010.03425.x⟩
Journal of Microscopy, Wiley, 2011, 241 (2), pp.207-11. ⟨10.1111/j.1365-2818.2010.03425.x⟩

International audience; To understand the reported difference between double band, sarcomeric second harmonic generation pattern of isolated myofibril and predominant single band pattern found in thick muscle tissues, we studied the effect of myofibr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0de6866d4bb655ae1d8a889b50cd6396
https://hal.science/hal-00586716

Simulated urban carbon monoxide air pollution exacerbates rat heart ischemia-reperfusion injury

Autor: Stéphane Tanguy, S. Richard, F. Boucher, Julien Boissiere, Philippe Obert, O. Cazorla, Félicie Lopez-Lauri, Cyril Reboul, Grégory Meyer, Charlotte Farah, Sandrine Gayrard, L. André

Publikováno v: AJP-Heart and Circulatory Physiology
AJP-Heart and Circulatory Physiology, American Physiological Society, 2010, 298 (5), pp.H1445-53. ⟨10.1152/ajpheart.01194.2009⟩
AJP-Heart and Circulatory Physiology, American Physiological Society, 2010, 298 (5), pp.H1445-H1453. ⟨10.1152/ajpheart.01194.2009⟩

Myocardial damages due to ischemia-reperfusion (I/R) are recognized to be the result of a complex interplay between genetic and environmental factors. Epidemiological studies suggested that, among environmental factors, carbon monoxide (CO) urban pol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e56a22e503ba9e29d6a0845faa88985
https://hal.archives-ouvertes.fr/hal-00776046