Sarcomere dysfunction in nemaline myopathy

JM de Winter, CAC Ottenheijm - Journal of Neuromuscular …, 2017 - content.iospress.com
Nemaline myopathy (NM) is among the most common non-dystrophic congenital
myopathies (incidence 1: 50.000). Hallmark features of NM are skeletal muscle weakness …

Recent advances in nemaline myopathy

NB Romero, SA Sandaradura… - Current opinion in …, 2013 - journals.lww.com
Recent advances in nemaline myopathy : Current Opinion in Neurology Recent advances in
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Diaphragm muscle fiber weakness and ubiquitin–proteasome activation in critically ill patients

PE Hooijman, A Beishuizen, CC Witt… - American journal of …, 2015 - atsjournals.org
Rationale: The clinical significance of diaphragm weakness in critically ill patients is evident:
it prolongs ventilator dependency, and increases morbidity and duration of hospital stay. To …

Oxidative stress, redox signaling pathways, and autophagy in cachectic muscles of male patients with advanced COPD and lung cancer

E Puig-Vilanova, DA Rodriguez, J Lloreta… - Free Radical Biology …, 2015 - Elsevier
Muscle dysfunction and wasting are predictors of mortality in advanced COPD and
malignancies. Redox imbalance and enhanced protein catabolism are underlying …

Cardiomyocyte contractile impairment in heart failure results from reduced BAG3-mediated sarcomeric protein turnover

TG Martin, VD Myers, P Dubey, S Dubey… - Nature …, 2021 - nature.com
The association between reduced myofilament force-generating capacity (Fmax) and heart
failure (HF) is clear, however the underlying molecular mechanisms are poorly understood …

Positive end-expiratory pressure ventilation induces longitudinal atrophy in diaphragm fibers

J Lindqvist, M van den Berg, R van der Pijl… - American journal of …, 2018 - atsjournals.org
Rationale: Diaphragm weakness in critically ill patients prolongs ventilator dependency and
duration of hospital stay and increases mortality and healthcare costs. The mechanisms …

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

G Ravenscroft, NG Laing, CG Bönnemann - Brain, 2015 - academic.oup.com
The congenital myopathies are a diverse group of genetic skeletal muscle diseases, which
typically present at birth or in early infancy. There are multiple modes of inheritance and …

Eggshell membrane modulates gut microbiota to prevent murine pre‐cachexia through suppression of T helper cell differentiation

H Jia, W Lyu, K Hirota, E Saito… - Journal of Cachexia …, 2022 - Wiley Online Library
Background Cachexia is a life‐threatening condition observed in several pathologies, such
as cancer or chronic diseases. Interleukin 10 (Il10) gene transfer is known to improve …

Pathogenic variants in the myosin chaperone UNC-45B cause progressive myopathy with eccentric cores

S Donkervoort, CE Kutzner, Y Hu, X Lornage… - The American Journal of …, 2020 - cell.com
The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and
muscle function from Caenorhabditis elegans to humans. The pathological impact of UNC …

Mutation‐specific effects on thin filament length in thin filament myopathy

JM Winter, B Joureau, EJ Lee, B Kiss… - Annals of …, 2016 - Wiley Online Library
Objective Thin filament myopathies are among the most common nondystrophic congenital
muscular disorders, and are caused by mutations in genes encoding proteins that are …