Results 81 to 90 of about 6,089,967 (287)

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +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

Intractable Epilepsy in Maternally Inherited Leigh Syndrome (MILS) Due to the Sporadic Variant m.8993T>G in MT-ATP6: A Case Report

Cureus, 2022
Epilepsy is a common phenotypic feature of Leigh syndrome. However, data about the characteristics, treatments, and outcomes of epilepsy in maternally inherited Leigh syndrome (MILS) are limited.
J. Finsterer
semanticscholar   +1 more source

Distinct thalamic functional connectivity and volume patterns across focal epilepsies in children: A multimodal neuroimaging study

Epilepsia, EarlyView.
Abstract Objective The thalamus is a key hub in seizure propagation, and its nuclei are emerging targets for neuromodulation. However, the contributions of individual nuclei to epileptic networks remain unclear, particularly in children, who are less studied than adults.
Xiyu Feng, Aswin Chari, Maria H. Eriksson, Freya Prentice, Xiaosong He, Hua Xie, Leigh Sepeta, M. Zubair Tahir, Jonathan D. Clayden, Martin M. Tisdall, Torsten Baldeweg, Rory J. Piper   +11 more
wiley   +1 more source

Survey of Human Mitochondrial Diseases Using New Genomic/Proteomic Tools [PDF]

, 2001
BACKGROUND. We have constructed Bayesian prior-based, amino-acid sequence profiles for the complete yeast mitochondrial proteome and used them to develop methods for identifying and characterizing the context of protein mutations that give rise to human ...
Mohr, Scott C., Plasterer, Thomas N., Smith, Temple F.   +2 more
core   +2 more sources

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

Differential effects of mTOR inhibition and dietary ketosis in a mouse model of subacute necrotizing encephalomyelopathy

Neurobiology of Disease, 2022
Genetic mitochondrial diseases are the most frequent cause of inherited metabolic disorders and one of the most prevalent causes of heritable neurological disease. Leigh syndrome is the most common clinical presentation of pediatric mitochondrial disease,
Rebecca Bornstein, Katerina James, Julia Stokes, Kyung Yeon Park, Ernst-Bernhard Kayser, John Snell, Angela Bard, Yihan Chen, Franck Kalume, Simon C. Johnson   +9 more
doaj   +1 more source

Transient rapamycin treatment can increase lifespan and healthspan in middle-aged mice [PDF]

, 2016
The FDA approved drug rapamycin increases lifespan in rodents and delays age-related dysfunction in rodents and humans. Nevertheless, important questions remain regarding the optimal dose, duration, and mechanisms of action in the context of healthy ...
Anderson, Anisimov, Atarashi, Augustine, Bates, Blackwell, Chen, Dai, de Oliveira, Ericsson, Ericsson, Flynn, Goldman, Halloran, Hard, Harrison, Hothorn, Johnson, Johnson, Johnson, Kaeberlein, Lamming, Majumder, Mannick, Mathew, Miller, Miller, Paulson, Prakash, Ramos, Treuting, Wilkinson, Xu, Zhang   +33 more
core   +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

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