Results 51 to 60 of about 15,339 (211)

Exploring mTOR inhibition as treatment for mitochondrial disease

Annals of Clinical and Translational Neurology, 2019
Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment.
Abigail Sage‐Schwaede, Kristin Engelstad, Rachel Salazar, Angela Curcio, Alexander Khandji, James H. Garvin Jr, Darryl C. De Vivo   +6 more
doaj   +1 more source

Osteoblastic differentiation improved by bezafibrate-induced mitochondrial biogenesis in deciduous tooth-derived pulp stem cells from a child with Leigh syndrome

Biochemistry and Biophysics Reports, 2019
Leigh syndrome is a highly heterogeneous condition caused by pathological mutations in either nuclear or mitochondrial DNA regions encoding molecules involved in mitochondrial oxidative phosphorylation, in which many organs including the brain can be ...
Xu Han, Kentaro Nonaka, Hiroki Kato, Haruyoshi Yamaza, Hiroshi Sato, Takashi Kifune, Yuta Hirofuji, Keiji Masuda   +7 more
doaj   +1 more source

Self-replicative mRNA-mediated generation of induced pluripotent stem cell line from a 1-year-old Leigh syndrome patient with mitochondrial DNA cytochrome b mutation

Stem Cell Research, 2021
Leigh syndrome is a progressive neurodegenerative disease due to defects in the mitochondrial genes, including mitochondrial DNA cytochrome b (MTCYB) mutation, that typically begins in infancy or early childhood.
Daryeon Son, Jie Zheng, In Yong Kim, Seungkwon You   +3 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene

Stem Cell Research
Leigh syndrome is a rare autosomal recessive disorder showcasing a diverse range of neurological symptoms. Classical Leigh syndrome is associated with mitochondrial complex I deficiency, primarily resulting from biallelic mutations in the NDUFAF5 gene ...
Chih-Hsin Ou-Yang, Pin-Shiuan Chen, Chin-Hsien Lin   +2 more
doaj   +1 more source

Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases

Molecules, 2022
NADH:ubiquinone oxidoreductase core subunit S8 (NDUFS8) is an essential core subunit and component of the iron-sulfur (FeS) fragment of mitochondrial complex I directly involved in the electron transfer process and energy metabolism.
Sifan Wang, Yuanbo Kang, Ruifeng Wang, Junqi Deng, Yupei Yu, Jun Yu, Junpu Wang   +6 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, EarlyView.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report

Molecular Genetics & Genomic Medicine, 2022
Background The NADH:ubiquinone oxidoreductase complex assembly factor gene (NDUFAF5) has been linked to the occurrence of Leigh syndrome, but few causative mutations have been identified. Here we report a rare case of Leigh syndrome in an infant who died
Yan Wen, Guoyan Lu, Lina Qiao, Yifei Li
doaj   +1 more source

Leigh Syndrome: A Tale of Two Genomes

, 2021
Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity.
Iyer, Shilpa, Lesnefsky, Edward J., Bakare, Ajibola B.   +2 more
core   +1 more source

Whose Care Matters? The Protective Role of Perceived Care in the Long‐Term Physical Health Consequences of Adolescent Loneliness

Journal of Adolescence, EarlyView.
ABSTRACT Introduction Loneliness has been associated with physical health outcomes, including an increased risk of cardiovascular disease (CVD). While much of the research has focused on older adults, less is known about whether loneliness during adolescence is related to CVD risk later in life.
Keun Young Kwon, Ha Ly Choi, Skylar Biyang Sun, Jinho Kim   +3 more
wiley   +1 more source