Results 61 to 70 of about 376,481 (188)

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

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil

Arquivos de Neuro-Psiquiatria
Objective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups:
Gabriela Palhares Campolina-Sampaio, Laura Maria de Lima Belizário Facury Lasmar, Beatriz Silva Vilela Ribeiro, Juliana Gurgel Giannetti   +3 more
doaj   +1 more source

Cardiopulmonary Exercise Testing (CPET) Guided Sub‐Anaerobic Threshold Rehabilitation in MELAS Syndrome: A Case Report

The Kaohsiung Journal of Medical Sciences, EarlyView.
Yu‐Lien Tsai, Kun‐Yuan Cheng, Yen‐Sen Lu, Ko‐Long Lin   +3 more
wiley   +1 more source

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

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency.
Zoller H, Dotti MT, Elhasid R, Sue CM, Marotta G, Accarino A, Sobreira C, Nachbaur D, Ferra C, Schupbach WMM, Filosto M, Hammans SR, Rovelli A, Illa I, de Coo IFM, Valcarcel D, Casali C, Bakker JA, Fay K, Gratwohl A, Mandel H, Boelens JJ, Chinnery PF, Orchard K, Beguin Y, Marti R, Simoes BP, Hirano M, Collin M, Pintos G, Barba P, Savage D, Halter JP   +32 more
core   +4 more sources

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

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy [PDF]

, 2016
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary ...
Lodi Raffaele, Cenacchi, Giovanna, Caporali Leonardo, Tugnoli Vitaliano, Contin, Manuela, Roberto D'Alessandro, Maresca, Alessandra, Antonietta D'Errico, Pinna Antonio Daniele, Tonon, Caterina, Pinna, Antonio Daniele, Alessandra Maresca, Papa, Valentina, Caterina Tonon, Mohamed Susan, CONTIN, MANUELA MARIA ANTONIA, Vitaliano Tugnoli, D'Alessandro, Roberto, Contin Manuela, Carelli Valerio, Loris Pironi, Giovanna Cenacchi, Roberto D'Angelo, Rinaldi Rita, Morelli Maria Cristina, Valerio Carelli, Rinaldi, Rita, Carelli, Valerio, D'Alessandro Roberto, Manuela Contin, Tonon Caterina, Roberto De Giorgio, Antonio Daniele Pinna, D'Angelo Roberto, De Giorgio, Roberto, CASALI, Carlo, Elisa Boschetti, Capristo Mariantonietta, D'Errico, Antonietta, Maresca Alessandra, Capristo, Mariantonietta, D'Errico Antonietta, D'Angelo, Roberto, Raffaele Lodi, Valentina Papa, Boschetti, Elisa, Mohamed, Susan, Pironi Loris, Carlo Casali, Leonardo Caporali, Casali Carlo, Gramegna Laura Ludovica, Boschetti Elisa, Gramegna, Laura Ludovica, Mariantonietta Capristo, Papa Valentina, Pironi, Loris, Cenacchi Giovanna, Laura Ludovica Gramegna, Lodi, Raffaele, Tugnoli, Vitaliano, Susan Mohamed, Maria Cristina Morelli, Caporali, Leonardo, Morelli, Maria Cristina, Rita Rinaldi   +65 more
core   +1 more source

Mitochondrial encephalomyopathy: six cases report and review of literature

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
The clinical characteristics, imaging examinations and muscle biopsies in 6 cases with mitochondrial encephalomyopathy were retrospectively analyzed.
Yuan GUO, Jun TUO, Bo WU
doaj