Results 51 to 60 of about 376,481 (188)

Mitochondria‐Targeted Nanotherapies in Aging Neurodegenerative Disorders: Emerging Prospects and Clinical Potential

Advanced Healthcare Materials, Volume 15, Issue 36, 25 September 2026.
Mitochondria‐targeted nanotherapies emerge as a promising strategy for combating aging‐associated neurodegenerative disorders (NDs) by restoring mitochondrial function, reducing oxidative stress, and improving neuronal survival. Recent advances in nanotechnology, therapeutic delivery, and translational research are highlighted, providing insights into ...
Dnyandev G. Gadhave, Ashish B. Jadhav, Nitin B. Waghamode, Shubham Khot, Rajiya Khan, Ravi Hole, Shankar M. Dhobale, Manoj Aswar, Keshav Raj Paudel   +8 more
wiley   +1 more source

Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9 [PDF]

, 2013
Importance Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of “MitoExome” sequencing (deep sequencing of the entire mitochondrial genome and the coding exons of >1000 nuclear genes ...
Garone, Caterina, Sacchini, Michele, Bruno, Claudio, Garcia Diaz, Beatriz, Donati, Maria Alice, Calvo, Sarah, Mootha, Vamsi K, DiMauro, Salvatore   +7 more
core   +2 more sources

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  

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

EBioMedicine, 2018
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers.
Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman   +33 more
doaj   +1 more source

Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidation. [PDF]

PLoS ONE, 2013
Thymidine kinase 2 (TK2) deficiency in humans causes mitochondrial DNA (mtDNA) depletion syndrome. To study the molecular mechanisms underlying the disease and search for treatment options, we previously generated and described a TK2 deficient mouse ...
Xiaoshan Zhou, Kristina Kannisto, Sophie Curbo, Ulrika von Döbeln, Kjell Hultenby, Sindra Isetun, Mats Gåfvels, Anna Karlsson   +7 more
doaj   +1 more source

Acute and Chronic Pancreatitis in Mitochondrial Disease: A Systematic Review

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Mitochondrial disease is a common inherited multisystem neurometabolic disorder. Pancreatic dysfunction is a recognised manifestation, most frequently presenting as mitochondrial diabetes. Although pancreatitis cases have been reported in association with mitochondrial disease, acute and chronic pancreatitis in this context remain poorly ...
Olivia Hahl, Mika H. Martikainen
wiley   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1856-1861, August 2026.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Oxidative Stress and Mitochondrial Injury in Chronic Multisymptom Conditions: From Gulf War Illness to Autism Spectrum Disorder [PDF]

, 2012
Background: Overlapping chronic multisymptom illnesses (CMI) include Chronic Fatigue Syndrome (CFS), fibromyalgia, irritable bowel syndrome, multiple chemical sensitivity, and Gulf War illness (GWI), and subsets of autism spectrum disorder (ASD).
Beatrice A. Golomb
core  

Long‐term prognosis of pharmacotherapy in newly diagnosed focal epilepsy patients and the predictive value of baseline seizure timing: A prospective cohort study

Epilepsia, Volume 67, Issue 8, Page 4065-4077, August 2026.
Abstract Objective Epilepsy is a highly heterogeneous neurological disorder with significant prognostic variability. Accurate long‐term outcome prediction remains a clinical challenge. We investigated pharmacotherapeutic prognosis and key predictors, particularly baseline seizure timing, to guide individualized treatment.
Lei Sun, Shouye Sun, Xinyue Zhang, Weihong Lin   +3 more
wiley   +1 more source

SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

JIMD Reports, 2021
SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy, of which 14 of ...
Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al‐Shidi, Eman Al‐Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W. Taylor, Dilek Colak, Moeenaldeen D. AlSayed, Namik Kaya   +17 more
doaj   +1 more source