MRI features of stroke-like episodes in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
W Cheng, Y Zhang, L He - Frontiers in Neurology, 2022 - frontiersin.org
Mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS) is
an important cause of stroke-mimicking diseases that predominantly affect patients before …
an important cause of stroke-mimicking diseases that predominantly affect patients before …
Mitochondrion-targeted RNA therapies as a potential treatment strategy for mitochondrial diseases
Mitochondrial diseases are one of the largest groups of neurological genetic disorders.
Despite continuous efforts of the scientific community, no cure has been developed, and …
Despite continuous efforts of the scientific community, no cure has been developed, and …
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders
LR van den Bersselaar, L Heytens… - European journal of …, 2022 - Wiley Online Library
Background and purpose Patients with neuromuscular conditions are at increased risk of
suffering perioperative complications related to anaesthesia. There is currently little specific …
suffering perioperative complications related to anaesthesia. There is currently little specific …
Efficacy and safety of elamipretide in individuals with primary mitochondrial myopathy: the MMPOWER-3 randomized clinical trial
Background and Objectives Primary mitochondrial myopathies (PMMs) encompass a group
of genetic disorders that impair mitochondrial oxidative phosphorylation, adversely affecting …
of genetic disorders that impair mitochondrial oxidative phosphorylation, adversely affecting …
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy
N Southwell, G Primiano, V Nadkarni… - EMBO Molecular …, 2023 - embopress.org
Mitochondrial diseases are a heterogeneous group of monogenic disorders that result from
impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues are highly energy …
impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues are highly energy …
Combined fibre atrophy and decreased muscle regeneration capacity driven by mitochondrial DNA alterations underlie the development of sarcopenia
Background Mitochondrial dysfunction caused by mitochondrial (mtDNA) deletions have
been associated with skeletal muscle atrophy and myofibre loss. However, whether such …
been associated with skeletal muscle atrophy and myofibre loss. However, whether such …
Mitochondrial DNA deletion mutations increase exponentially with age in human skeletal muscle
A Herbst, CC Lee, AR Vandiver, JM Aiken… - Aging clinical and …, 2021 - Springer
Abstract Background Mitochondrial DNA (mtDNA) deletion mutations lead to electron
transport chain-deficient cells and age-induced cell loss in multiple tissues and mammalian …
transport chain-deficient cells and age-induced cell loss in multiple tissues and mammalian …
Yoga improves mitochondrial health and reduces severity of autoimmune inflammatory arthritis: A randomized controlled trial
Background Oxidative stress (OS) and mitochondrial alterations have been implicated in the
pathogenesis of rheumatoid arthritis (RA). Various environmental triggers like air pollutants …
pathogenesis of rheumatoid arthritis (RA). Various environmental triggers like air pollutants …
Mitochondrially-targeted treatment strategies
Disruption of mitochondrial function is a common feature of inherited mitochondrial diseases
(mitochondriopathies) and many other infectious and non-infectious diseases including viral …
(mitochondriopathies) and many other infectious and non-infectious diseases including viral …
[HTML][HTML] SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA
S Germani, AT Van Ho, A Cherubini, E Varone… - Cell Reports …, 2024 - cell.com
Selenoprotein N (SEPN1) is a protein of the endoplasmic reticulum (ER) whose inherited
defects originate SEPN1-related myopathy (SEPN1-RM). Here, we identify an interaction …
defects originate SEPN1-related myopathy (SEPN1-RM). Here, we identify an interaction …