Results 41 to 50 of about 483,484 (261)

Mitochondrial disease and epilepsy [PDF]

Developmental Medicine & Child Neurology, 2012
Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures.
openaire   +3 more sources

Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease

Stem Cell Research
Abnormal trinucleotide CAG repeat expansions in exon 1 of the Androgen Receptor (AR) gene has been identified as the cause of Kennedy disease (KD). We generated and characterized a human induced pluripotent stem cell (iPSC) line from peripheral blood ...
Bo Li, Yitong Yang, Yingxin Wang, Didi Shan, Jianing Li, Hongxu Wang, Xiaohan Sun, Yao Tang, Yichang Jiao, Xinbo Ji, Zexin Zhan, Bo Kong, Bo Gao, Yu Wang, Ping Sun, Fuchen Liu   +15 more
doaj   +1 more source

Effects of oxidative stress on hepatic encephalopathy pathogenesis in mice

Nature Communications, 2023
Oxidative stress plays a crucial role in the pathogenesis of hepatic encephalopathy (HE), but the mechanism remains unclear. GABAergic neurons in substantia nigra pars reticulata (SNr) contribute to the motor deficit of HE.
Yunhu Bai, Kenan Li, Xiaodong Li, Xiyu Chen, Jie Zheng, Feifei Wu, Jinghao Chen, Ze Li, Shuai Zhang, Kun Wu, Yong Chen, Yayun Wang, Yanling Yang   +12 more
doaj   +1 more source

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

The Drp1-CoQ10-Coa6-ETC axis represents a therapeutic potential for working memory impairment caused by neuronal mitochondrial dysfunction

Translational Neurodegeneration
Background Coenzyme Q10 (CoQ10) is a key mitochondrial electron carrier and a widely used dietary supplement with potential neurological benefits. However, the mechanisms underlying its effect in ameliorating memory deficits caused by cerebellar injury ...
Jingjing Tie, Shujiao Li, Xin Huang, Keke Ren, Ziwei Ni, Xiaodong Li, Changlei Zhu, Hui Liu, Feifei Wu, Yanling Yang, Yayun Wang   +10 more
doaj   +1 more source

Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study

Frontiers in Nutrition
IntroductionPompe disease is a muscular lysosomal storage disorder characterized by autosomal recessive inheritance and caused by deficiency of the acid alpha-glucosidase (GAA) enzyme.
Duoling Li, Yixin Shi, Hanhan Sun, Na Zhang, Hang Su, Wei Li, Dandan Zhao, Bing Wen, Yuying Zhao   +8 more
doaj   +1 more source

A protective mechanism of probiotic Lactobacillus against hepatic steatosis via reducing host intestinal fatty acid absorption

Experimental and Molecular Medicine, 2019
Liver disease: Beneficial bacteria divert dietary fats Intestinal bacteria that consume common fatty acids could help protect their hosts against non-alcoholic fatty liver disease (NAFLD).
Hye Rim Jang, Hyun-Jun Park, Dongwon Kang, Hayung Chung, Myung Hee Nam, Yeonhee Lee, Jae-Hak Park, Hui-Young Lee   +7 more
doaj   +1 more source

The essential role of fructose-1,6-bisphosphatase 2 enzyme in thermal homeostasis upon cold stress

Experimental and Molecular Medicine, 2020
Body temperature: Enzyme critical to heat production in muscle When simple sugars in the diet are scarce, skeletal muscle can still generate heat under cold conditions thanks to an enzyme that converts a metabolic byproduct into complex carbohydrates.
Hyun-Jun Park, Hye Rim Jang, Shi-Young Park, Young-Bum Kim, Hui-Young Lee, Cheol Soo Choi   +5 more
doaj   +1 more source

Microbiome‐blood–brain barrier interactions in aging — mechanisms and therapeutic potential

FEBS Letters, EarlyView.
Aging reshapes the gut microbiome (↓SCFA‐producing commensals; ↑pro‐inflammatory outputs), shifting circulating metabolites (↓SCFAs; ↑LPS, ↑TMAO, ↑PAA) that act at the BBB to increase nonspecific transcytosis, alter transport, and promote astrocyte reactivity, heightening brain vulnerability.
Daniel Cuervo‐Zanatta, Hari Baskar Balasubramanian, Amir Pasokh, Marietta Zille   +3 more
wiley   +1 more source

Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy

Orphanet Journal of Rare Diseases
Background Mutations in the TK2 gene are strongly associated with mitochondrial DNA depletion syndrome (MDS), a severe condition with high mortality and poor outcomes.
Duoling Li, Yixin Shi, Hanhan Sun, Chuanzhu Yan, Yan Lin   +4 more
doaj   +1 more source