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NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.

Autor: Ranu, Natasha¹ (AUTHOR), Laitila, Jenni^2,3 (AUTHOR), Dugdale, Hannah F.^1,4 (AUTHOR), Mariano, Jennifer⁵ (AUTHOR), Kolb, Justin S.⁶ (AUTHOR), Wallgren-Pettersson, Carina³ (AUTHOR), Witting, Nanna⁷ (AUTHOR), Vissing, John⁷ (AUTHOR), Vilchez, Juan Jesus^8,9 (AUTHOR), Fiorillo, Chiara¹⁰ (AUTHOR), Zanoteli, Edmar¹¹ (AUTHOR), Auranen, Mari¹² (AUTHOR), Jokela, Manu^13,14,15 (AUTHOR), Tasca, Giorgio^16,17 (AUTHOR), Claeys, Kristl G.^18,19 (AUTHOR), Voermans, Nicol C.²⁰ (AUTHOR), Palmio, Johanna¹⁵ (AUTHOR), Huovinen, Sanna²¹ (AUTHOR), Moggio, Maurizio²² (AUTHOR), Beck, Thomas Nyegaard² (AUTHOR)

Publikováno v: Acta Neuropathologica Communications. 12/17/2022, p1-14. 14p.

Land Body Ecologies: A case study for global transdisciplinary collaboration at the intersections of environment and mental health

Autor: Gougsa, Samrawit, Pratt, Victoria, George, Babitha, Vilela, Cecilia, Kobei, Daniel, Kokunda, Sylvia, Kelman, Ilan, Eaton, Ben, Maina, Lilian, Luari, Samson, Autti, Outi, Kerätär, Kaisa, Laitila, Jenni, Baxendale, Catherine, Raj, Romit, Deshpande, Reema, Gokharu, Riya, Singh, Neha, Gordon, Sheila, Mendu, Nqatyiswa, Ahmad, Ayesha, research group, Land Body Ecologies

Externí odkaz: https://hdl.handle.net/11250/3069618

Additional file 2 of Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Autor: Laitila, Jenni, Elyshia McNamara, Wingate, Catherine, Goullee, Hayley, Ross, Jacob, Taylor, Rhonda, Pijl, Robbert Van Der, Griffiths, Lisa, Harries, Rachel, Ravenscroft, Gianina, Clayton, Joshua, Sewry, Caroline, Lawlor, Michael, Ottenheijm, Coen, Bakker, Anthony, Ochala, Julien, Laing, Nigel, Wallgren-Pettersson, Carina, Pelin, Katarina, Nowak, Kristen

Additional file 2. Summary of the whole muscle physiology results. a Individual muscle mass, maximum specific force, twitch specific force, maximal rate of force production (dF/dt), contraction time (time-to-peak), half-relaxation time. Unpaired t-te

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f7e2dda92029fa2e05f735e1b96a756

Elucidating nebulin expression and function in health and disease

Autor: Laitila, Jenni

The nemaline myopathies (NM) are a group of genetic muscle disorders, ranging in severity from severe, early lethal forms to milder muscle disorders with onset in childhood, sometimes presenting in adulthood. Nemaline myopathies present with usually

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1593::f54334160f4004ac71ce57bc78c55545
http://hdl.handle.net/10138/305016