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

doi:10.1186/s40478-022-01491-9

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Article

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

Acta neuropathologica communications - 17 Dec 2022

Ranu Natasha, Laitila Jenni, Dugdale Hannah F, Mariano Jennifer, Kolb Justin S, Wallgren-Pettersson Carina, Witting Nanna, Vissing John, Vilchez Juan Jesus, Fiorillo Chiara, Zanoteli Edmar, Auranen Mari, Jokela Manu, Tasca Giorgio, Claeys Kristl G, Voermans Nicol C, Palmio Johanna, Huovinen Sanna, Moggio Maurizio, Beck Thomas Nyegaard, Kontrogianni-Konstantopoulos Aikaterini, Granzier Henk, Ochala Julien

Abstract excerpt

Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle disorders. NM is often associated with mutations in the NEB gene. Even though the exact NEB-NM pathophysiological mechanisms remain unclear, histological analyses of patients' muscle biopsies often reveal unexplained accumulation of glycogen and abnormally shaped mitochondria. Hence, the aim of the present study was to define the exact...

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PMID: 36528760
DOI: 10.1186/s40478-022-01491-9
PMCID: PMC9758823

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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