Results 61 to 70 of about 5,143 (201)

Elevated Ca2+ at the triad junction underlies dysregulation of Ca2+ signaling in dysferlin-null skeletal muscle

open access: yesFrontiers in Physiology, 2022
Dysferlin-null A/J myofibers generate abnormal Ca2+ transients that are slightly reduced in amplitude compared to controls. These are further reduced in amplitude by hypoosmotic shock and often appear as Ca2+ waves (Lukyanenko et al., J. Physiol., 2017).
Valeriy Lukyanenko   +5 more
doaj   +1 more source

Dysferlin and Animal Models for Dysferlinopathy

open access: yesJournal of Toxicologic Pathology, 2012
Dysferlin (DYSF) is involved in the membrane-repair process, in the intracellular vesicle system and in T-tubule development in skeletal muscle. It interacts with mitsugumin 53, annexins, caveolin-3, AHNAK, affixin, S100A10, calpain-3, tubulin and dihydropyridine receptor.
Kobayashi, Kinji   +3 more
openaire   +3 more sources

Dysferlin mediates the cytoprotective effects of TRAF2 following myocardial ischemia reperfusion injury [PDF]

open access: yes, 2014
BACKGROUND: We have demonstrated that tumor necrosis factor (TNF) receptor‐associated factor 2 (TRAF2), a scaffolding protein common to TNF receptors 1 and 2, confers cytoprotection in the heart.
Barger, Philip M   +7 more
core   +2 more sources

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway [PDF]

open access: yes, 2015
Oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD), an X-linked genetic disorder caused by mutations in the dystrophin gene and characterized by progressive, lethal muscle degeneration and chronic inflammation.
Petrillo, Sara   +10 more
core   +5 more sources

Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies

open access: yesBiomolecules, 2023
Muscular dystrophies are a heterogeneous group of genetic muscle-wasting disorders that are subdivided based on the region of the body impacted by muscle weakness as well as the functional activity of the underlying genetic mutations. A common feature of
Alan Rawls   +5 more
doaj   +1 more source

Brain Atrophy Associated With Risk Variant rs10191329 Extends Beyond Multiple Sclerosis

open access: yesAnnals of Neurology, EarlyView.
The risk allele rs10191329*A is associated with disease severity and brain atrophy in people with multiple sclerosis (MS). We investigated the association of rs10191329 with age‐related brain atrophy in a population‐based cohort using 10,308 magnetic resonance imaging (MRI) scans of 4,815 participants aged ≥ 45 years without MS in cross‐sectional and ...
Cato E. A. Corsten   +10 more
wiley   +1 more source

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

open access: yesFrontiers in Neuroscience, 2022
BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families ...
Norah Alharbi   +10 more
doaj   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling   +6 more
wiley   +1 more source

Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy [PDF]

open access: yes, 2010
Background The administration of rituximab (RTX) in vivo results in B-cell depletion, but evidence for multiple mechanisms of action have been reported.
Alberto Lerario   +6 more
core   +2 more sources

Comparative analysis of canonical and noncanonical rhodopsins in Amphidinium carterae and Karlodinium veneficum

open access: yesJournal of Phycology, EarlyView.
Abstract Rhodopsins are ancient and versatile light‐sensitive proteins, widely distributed across microbial life. In dinoflagellates, however, their diversity and function remain poorly understood, owing to the lineage's extreme genomic divergence. Here, we surveyed the rhodopsin complements of two dinoflagellates, Amphidinium carterae and Karlodinium ...
Jens Wira   +4 more
wiley   +1 more source

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