Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Aurelia Defour"'
Autor:
Vanessa E. Jahnke, Jennifer M. Peterson, Jack H. Van Der Meulen, Jessica Boehler, Kitipong Uaesoontrachoon, Helen K. Johnston, Aurelia Defour, Aditi Phadke, Qing Yu, Jyoti K. Jaiswal, Kanneboyina Nagaraju
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-17 (2020)
Abstract Background Nonsense or loss-of-function mutations in the non-lysosomal cysteine protease calpain-3 result in limb-girdle muscular dystrophy type 2A (LGMD2A). While calpain-3 is implicated in muscle cell differentiation, sarcomere formation,
Externí odkaz:
https://doaj.org/article/050731eeba884453b57d2710d7a8e532
Autor:
Marshall W. Hogarth, Aurelia Defour, Christopher Lazarski, Eduard Gallardo, Jordi Diaz Manera, Terence A. Partridge, Kanneboyina Nagaraju, Jyoti K. Jaiswal
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Fibroadipogenic precursor cells (FAPs) contribute to fibrosis and adipogenic replacement in muscular dystrophies. Here, the authors show that FAPs contribute to adipogenic loss in mouse models of limb girdle muscular dystrophy 2B via a mechanism depe
Externí odkaz:
https://doaj.org/article/0de39a40d2af49bb9bb31819d111a9f9
Autor:
Daniel C. Bittel, Goutam Chandra, Laxmi M. S. Tirunagri, Arun B. Deora, Sushma Medikayala, Luana Scheffer, Aurelia Defour, Jyoti K. Jaiswal
Publikováno v:
Cells, Vol 9, Iss 9, p 1919 (2020)
Muscle cell plasma membrane is frequently damaged by mechanical activity, and its repair requires the membrane protein dysferlin. We previously identified that, similar to dysferlin deficit, lack of annexin A2 (AnxA2) also impairs repair of skeletal
Externí odkaz:
https://doaj.org/article/2f042f974983491595d999e7337b246d
Autor:
Jack H. Van der Meulen, Jennifer M. Peterson, Helen Johnston, Aditi Phadke, Jessica F. Boehler, Aurelia Defour, Vanessa E. Jahnke, Kanneboyina Nagaraju, Qing Yu, Jyoti K. Jaiswal, Kitipong Uaesoontrachoon
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-17 (2020)
Skeletal Muscle
Skeletal Muscle
BackgroundNonsense or loss-of-function mutations in the non-lysosomal cysteine protease calpain-3 result in limb-girdle muscular dystrophy type 2A (LGMD2A). While calpain-3 is implicated in muscle cell differentiation, sarcomere formation, and muscle
Autor:
Alexandra Salvi, Eugénie Dionnet, Nathalie Da Silva, Francesca Puppo, Svetlana Gorokhova, Martin Krahn, Aurelia Defour, Marc Bartoli, Nicolas Lévy
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩
Human Mutation, Wiley, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩
Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often overlooked splicing effect of missense variants, we developed the functional assay (“minigene”) for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85c16227aa851d452697d98e9ee95d4f
https://hal-amu.archives-ouvertes.fr/hal-02959280
https://hal-amu.archives-ouvertes.fr/hal-02959280
Publikováno v:
Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2018, 5 (1), pp.21-28. ⟨10.3233/JND-170251⟩
Journal of Neuromuscular Diseases, IOS Press, 2018, 5 (1), pp.21-28. ⟨10.3233/JND-170251⟩
International audience; Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal manner. One of the major repair
Autor:
Kanneboyina Nagaraju, Jack H. Van der Meulen, Jessica F. Boehler, Marshall W. Hogarth, Apostolos Malatras, William Duddy, Sushma Medikayala, Aurelia Defour, Jyoti K. Jaiswal, Nicholas Holdreith
Publikováno v:
Human Molecular Genetics. 26:1979-1991
Repair of skeletal muscle after sarcolemmal damage involves dysferlin and dysferlin-interacting proteins such as annexins. Mice and patient lacking dysferlin exhibit chronic muscle inflammation and adipogenic replacement of the myofibers. Here, we sh
Autor:
Nagarajan Pattabiraman, Aurelia Defour, Soumya Mishra, Hiroki Morizono, Sen Chandra Sreetama, Ibrahim Mahjneh, Anant K. Menon, Mohammad Mahad Ahmad, Vincent Mouly, Jyoti K. Jaiswal, Kalpana Pandey, Goutam Chandra, Kamel Mamchoui
Publikováno v:
Cell Death Discovery
Cell Death Discovery, Springer Nature, 2019, ⟨10.1038/s41420-019-0197-z⟩
Cell Death Discovery, Springer Nature, 2019, 5 (1), pp.118. ⟨10.1038/s41420-019-0197-z⟩
Cell Death Discovery, Vol 5, Iss 1, Pp 1-15 (2019)
Cell Death Discovery, 2019, 5 (1), pp.118. ⟨10.1038/s41420-019-0197-z⟩
Cell Death Discovery, Springer Nature, 2019, ⟨10.1038/s41420-019-0197-z⟩
Cell Death Discovery, Springer Nature, 2019, 5 (1), pp.118. ⟨10.1038/s41420-019-0197-z⟩
Cell Death Discovery, Vol 5, Iss 1, Pp 1-15 (2019)
Cell Death Discovery, 2019, 5 (1), pp.118. ⟨10.1038/s41420-019-0197-z⟩
Autosomal recessive mutations in Anoctamin 5 (ANO5/TMEM16E), a member of the transmembrane 16 (TMEM16) family of Ca2+-activated ion channels and phospholipid scramblases, cause adult-onset muscular dystrophies (limb girdle muscular dystrophy 2L (LGMD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c76a0df3ad780898db673af2cfc73bec
https://hal.sorbonne-universite.fr/hal-02905833
https://hal.sorbonne-universite.fr/hal-02905833
Autor:
Jyoti K. Jaiswal, Eduard Gallardo, Kanneboyina Nagaraju, Christopher Lazarski, Marshall W. Hogarth, Terence A. Partridge, Aurelia Defour, Jordi Diaz Manera
Publikováno v:
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Muscle loss due to fibrotic or adipogenic replacement of myofibers is common in muscle diseases and muscle-resident fibro/adipogenic precursors (FAPs) are implicated in this process. While FAP-mediated muscle fibrosis is widely studied in muscle dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c6a9b5e6a54cb6a512e5735b514843f
https://ddd.uab.cat/record/223339
https://ddd.uab.cat/record/223339
Autor:
Jack H. Van der Meulen, Aurelia Defour, Marshall W. Hogarth, Adam Horn, Jyoti K. Jaiswal, Luana Scheffer, Navdeep S. Chandel, Sen Chandra Sreetama, Aaron Reed
Publikováno v:
Science signaling. 10(495)
Strain and physical trauma to mechanically active cells, such as skeletal muscle myofibers, injures their plasma membranes, and mitochondrial function is required for their repair. We found that mitochondrial function was also needed for plasma membr