Results 21 to 30 of about 27,503 (244)

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease. [PDF]

Sci Rep, 2017
Contains fulltext : 176945.pdf (Publisher’s version ) (Open Access)Leigh Disease is a progressive neurometabolic disorder for which a clinical effective treatment is currently still lacking.
de Haas R, Das D, Garanto A, Renkema HG, Greupink R, van den Broek P, Pertijs J, Collin RWJ, Willems P, Beyrath J, Heerschap A, Russel FG, Smeitink JA.   +12 more
europepmc   +2 more sources

Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement

Journal of Behçet Uz Children's Hospital, 2022
Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a substantial place in clinical practice. In this study, the clinical, radiological, electrophysiological
Çağatay Günay, Cem Paketçi, Pınar Edem, Gamze Sarıkaya Uzan, Ayşe Semra Hız Kurul, Zümrüt Arslan Gülten, Pelin Teke Kısa, Nur Arslan, Uluç Yıs   +8 more
doaj   +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

Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice [PDF]

PeerJ, 2017
Background The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans.
Mei Wang, Ya-Ping Huang, Han Wu, Ke Song, Cong Wan, A-Ni Chi, Ya-Mei Xiao, Xiao-Yang Zhao   +7 more
doaj   +2 more sources

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families [PDF]

, 2010
Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome.
Mazhor Al-Dosary, Worgan, L, Jones, S, Robert W. Taylor, Lisa Worgan, Saretzki, G, Mansour, S, Sahar Mansour, Michael Clarke, David R. Thorburn, Robert McFarland, Thorburn, DR, Vanessa E. Hogan, Emma L. Blakely, Al-Dosary, M, Simon Jones, Hogan, VE, Devlin, AM, Langping He, Tuppen, HAL, Gabriele Saretzki, Alston, CL, Blakely, EL, Morris, AA, Charlotte L. Alston, Taylor, RW, Tuppen, HA, Chrzanowska-Lightowlers, ZMA, Zofia M. A. Chrzanowska-Lightowlers, Andrew A. Morris, Chrzanowska-Lightowlers, ZM, Clarke, M, Anita M. Devlin, Helen A. L. Tuppen, He, L, McFarland, R   +35 more
core   +1 more source

Leigh Syndrome Mimicking Wernicke’s Encephalopathy: A Case Report

대한영상의학회지, 2020
Leigh syndrome or subacute necrotizing encephalomyelopathy is a rare, rapidly progressive neurodegenerative disorder. In general, symptoms such as shortness of breath and decreased cardiac function usually occur within 1 year of life.
Jisoo Oh, Jinok Choi, Soojung Kim, Eun-ae Yoo   +3 more
doaj   +1 more source

A multicenter study on Leigh syndrome: Disease course and predictors of survival [PDF]

, 2014
Background: Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation.
Meirleir, L. (Linda) de, Bindoff, L.A. (Laurence Albert), Ostergaard, M., Coo, I.F.M. (René) de, Tulinius, M. (Már), Uusimaa, J. (Johanna), Isohanni, M.K. (Matti), Pihko, H. (Helena), Angst, I.B. (Isabel) de, Naess, K. (Karin), Tzoulis, C. (Charalampos), Lönnqvist, T. (Tuula), Darin, N. (Niklas), Sofou, K. (Kalliopi), Mankinen, K. (Katariina)   +14 more
core   +3 more sources

Clinical Spectrum, Heteroplasmy-Phenotype Correlation, and Prognosis of the MT-ND3 m.10191 T > C Mutation. [PDF]

CNS Neurosci Ther
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.
He Z, Jiang H, Li T, Liu Y, Zou Y, Xu C, Liu Z, Shen D, Duan R, Song M, Zhang Y, Zhang Z, Sun M, Shen R, Xue H, Fang F.   +15 more
europepmc   +2 more sources

Leigh's Disease: The Acute Clinical Course of a Two-Year-Old Child with Subacute Necrotizing Encephalomyelopathy [PDF]

, 2010
We report the untypical clinical course of a previously healthy two-year-old girl, who died suddenly and unexpectedly after an episode of vomiting. At forensic autopsy no other pathological findings could be diagnosed than multiple reddish, sunken areas ...
Andreas Buettner, Matthias Graw, Graw, Matthias, Bettina Zinka, Zinka, Bettina, Buettner, Andreas   +5 more
core   +1 more source

Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome

Frontiers in Cell and Developmental Biology, 2021
In this study, we aimed to establish the mitochondrial etiology of the proband’s progressive neurodegenerative disease suggestive of an atypical Leigh syndrome, by determining the proband’s pathogenic variants.
Martine Uittenbogaard, Kuntal Sen, Matthew Whitehead, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Andrea Gropman, Anne Chiaramello   +7 more
doaj   +1 more source