NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J.
Ranu N, et al.
Acta Neuropathol Commun. 2022 Dec 17;10(1):185. doi: 10.1186/s40478-022-01491-9.
Acta Neuropathol Commun. 2022.
PMID: 36528760
Free PMC article.