NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in...
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
About this item
Full title
Author / Creator
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 and Ochala, Julien
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 mitocho...
Alternative Titles
Full title
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e5ee5a8d011d4228bc2e2b2882c85e90
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e5ee5a8d011d4228bc2e2b2882c85e90
Other Identifiers
ISSN
2051-5960
E-ISSN
2051-5960
DOI
10.1186/s40478-022-01491-9
