Results 61 to 70 of about 6,956 (184)

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, Volume 600, Issue 12, Page 1699-1716, June 2026.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes in an older adult mimicking cerebral infarction: a Chinese case report

Clinical Interventions in Aging, 2018
Gao-Li Fang,1 Yang Zheng,2 Yin-Xi Zhang2 1Department of Neurology, Hangzhou Red Cross Hospital, Hangzhou, China; 2Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China Abstract: Few cases of ...
Fang GL, Zheng Y, Zhang YX
doaj  

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, Volume 4, Issue 2, June 2026.
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

Clinical Spectrum, Heteroplasmy‐Phenotype Correlation, and Prognosis of the MT‐ND3 m.10191 T > C Mutation

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This study presents the largest cohort of patients with the m.10191 T > C mutation to date, delineating a continuous spectrum from LS to MELAS‐like phenotypes and systematically characterizing clinical manifestations, neuroimaging features, heteroplasmy–phenotype correlations, and prognostic factors.
Zimeng He, Huafang Jiang, Tongyue Li, Yang Liu, Ying Zou, Chaolong Xu, Zhimei Liu, Danmin Shen, Ruoyu Duan, Minhan Song, Yunxi Zhang, Zixuan Zhang, Mingxi Sun, Rui Shen, Hong Xue, Fang Fang   +15 more
wiley   +1 more source

误诊为脑梗死的MELAS1例报告

Zhongguo shiyan zhenduanxue, 2015
线粒体脑肌病（mitochondrial encephalomyopathy,ME）为中枢神经系统少见代谢性疾病,是由于线粒体结构与功能障碍、呼吸链受损所致的多系统疾病,以骨骼肌及中枢神经系统受累为主。线粒体脑肌病伴乳酸中毒和中风发作（mitochondrial encephalomyopathy,lactic acidosis,and strokelike episodes,MELAS）为ME的常见类型 ...
吕晓民, 孙立超, 顾金花, 邱吉庆   +3 more
doaj  

Dystonia and Partial Cytochrome B Deficiency

Pediatric Neurology Briefs, 1991
An 18 year old female with idiopathic torsion dystonia associated with mitochondrial encephalomyopathy is reported from the Departments of Neurology, Pediatrics and Biochemistry, Wayne State University School of Medicine, Detroit, Michigan.
J Gordon Millichap
doaj   +1 more source

Association of a Homozygous TYMP c.131G>C Variant With MNGIE in a Chinese Pedigree: Insights From Genetic Analysis and Computational Modeling

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Researcher highlight: Extending beyond the recently reported compound heterozygous case, we report the same TYMP c.131G>C variant in a homozygous configuration, delivering key genetic evidence for its standalone pathogenicity in MNGIE. ABSTRACT Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder ...
Ling Li, Xiu Chen, Hua Li, Kai Guo, Ting Zhang, Mingyi Ma, Songhua Zhao   +6 more
wiley   +1 more source

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern, Karryn Crisamore, John Patton, Robert Schuck, Michael Pacanowski   +4 more
wiley   +1 more source

Mitochondrial Encephalopathy and Cytochrome C

Pediatric Neurology Briefs, 1997
Benefits from treatment of mitochondrial encephalomyopathy (MEM) with cytochrome C (6.25 mg) and vitamins Bl (25 mg) and B2 (12.5 mg), in daily injections, are reported from Osaka University Medical School and other centers in Japan.
J Gordon Millichap
doaj   +1 more source

New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome

Journal of Pediatric and Neonatal Individualized Medicine
Defects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous.
Carolina Ferreira Gonçalves, Patrícia Lipari Pinto, Ana Raquel Claro, Joana Coelho, Sofia Quintas, Márcia Rodrigues, Paula Costa, Ana Margalha Miranda, Mónica Rebelo, Célia Nogueira, Patrícia Janeiro, Ana Gaspar   +11 more
doaj   +1 more source