Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair

GMI Redpath, N Woolger, AK Piper… - Molecular biology of …, 2014 - Am Soc Cell Biol
Dysferlin and calpain are important mediators of the emergency response to repair plasma
membrane injury. Our previous research revealed that membrane injury induces cleavage of …

[HTML][HTML] Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology …

JE Mangum, JP Hardee, DK Fix, MJ Puppa, J Elkes… - Scientific reports, 2016 - nature.com
Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an
oxidative phosphorylation disorder, with primary clinical manifestations of myopathic …

[HTML][HTML] Myofiber damage precedes macrophage infiltration after in vivo injury in dysferlin-deficient A/J mouse skeletal muscle

JA Roche, ME Tulapurkar, AL Mueller… - The American journal of …, 2015 - Elsevier
Mutations in the dysferlin gene (DYSF) lead to human muscular dystrophies known as
dysferlinopathies. The dysferlin-deficient A/J mouse develops a mild myopathy after 6 …

Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle

F Liu, J Lou, D Zhao, W Li, Y Zhao, X Sun… - International Journal of …, 2016 - Taylor & Francis
Purpose: Mitochondrial defects have been associated with a series of muscular diseases.
Dysferlinopathy, however, has been rarely reported with mitochondrial dysfunction. Here we …

[HTML][HTML] Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb …

Z White, N Milad, AY Tehrani, WWH Chen, G Donen… - PLoS …, 2019 - journals.plos.org
There is no cure or beneficial management option for Limb-Girdle muscular dystrophy (MD)
type 2B (LGMD2B). Losartan, a blood pressure (BP) lowering angiotensin II (AngII) receptor …