Results 31 to 40 of about 6,089,967 (287)

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia

International Journal of Molecular Sciences, 2023
Leigh syndrome (LS), also known as infantile subacute necrotizing encephalopathy, is the most frequent mitochondrial disorder in children. Recently, more than 80 genes have been associated with LS, which greatly complicates the diagnosis. In this article,
Denis Kistol, P. Tsygankova, T. Krylova, I. Bychkov, Y. Itkis, E. Nikolaeva, S. Mikhailova, M. Sumina, N. Pechatnikova, S. Kurbatov, F. Bostanova, Ochir Migiaev, E. Zakharova   +12 more
semanticscholar   +1 more source

Association Between Epilepsy and Leigh Syndrome With MT-ND3 Mutation, Particularly the m.10191T>C Point Mutation

Frontiers in Neurology, 2021
Background and Purpose: Recent advances in molecular genetic testing have led to a rapid increase in the understanding of the genetics of Leigh syndrome.
Ji-Hoon Na, Min Jung Lee, Chul Ho Lee, Young-Mock Lee, Young-Mock Lee   +4 more
doaj   +1 more source

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome. [PDF]

Am J Med Genet A
Yeole M, Majethia P, Siddiqui S, Girisha KM, Shukla A, Radhakrishnan P, Bhat V.   +6 more
europepmc   +3 more sources

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

Nature Communications, 2021
Leigh syndrome (LS) is a severe manifestation of mitochondrial disease in children and is currently incurable. The lack of effective models hampers our understanding of the mechanisms underlying the neuronal pathology of LS. Using patient-derived induced
Gizem Inak, A. Rybak-Wolf, P. Lisowski, T. Pentimalli, R. Jüttner, Petar Glažar, K. Uppal, E. Bottani, D. Brunetti, Christopher Secker, Annika Zink, D. Meierhofer, Marie-Thérèse Henke, Monishita Dey, Ummi Ciptasari, Barbara Mlody, T. Hahn, Maria Berruezo-Llacuna, Nikos Karaiskos, M. Di Virgilio, J. Mayr, S. Wortmann, J. Priller, M. Gotthardt, Dean P. Jones, E. Mayatepek, W. Stenzel, Sebastian Diecke, R. Kühn, E. Wanker, N. Rajewsky, M. Schuelke, A. Prigione   +32 more
semanticscholar   +1 more source

Mitochondrial Oxidative Stress Mediates Bradyarrhythmia in Leigh Syndrome Mitochondrial Disease Mice

Antioxidants, 2023
Mitochondrial oxidative stress has been implicated in aging and several cardiovascular diseases, including heart failure and cardiomyopathy, ventricular tachycardia, and atrial fibrillation.
Biyi Chen, Nastaran Daneshgar, Hsiang-Chun Lee, Long-sheng Song, Dao-Fu Dai   +4 more
semanticscholar   +1 more source

Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene

Stem Cell Research, 2020
Leigh syndrome is a rare multi-organ system disorder that affects less than 1 in 5000 births. In cases where clinical heterogeneity makes some presentations difficult to categorize as Leigh syndrome, but are highly suggestive, those are referred to as ...
Glen Lester Sequiera, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +2 more
doaj   +1 more source

Peripheral macrophages drive CNS disease in the Ndufs4(−/−) model of Leigh syndrome

Brain Pathology, 2023
Subacute necrotizing encephalopathy, or Leigh syndrome (LS), is the most common pediatric presentation of genetic mitochondrial disease. LS is a multi‐system disorder with severe neurologic, metabolic, and musculoskeletal symptoms.
Allison R. Hanaford, A. Khanna, V. Truong, K. James, Yihan Chen, M. Mulholland, Bernhard Kayser, Ryan W Liao, M. Sedensky, Phil G. Morgan, Nathan Baerchst, V. Kalia, S. Sarkar, Simon C. Johnson   +13 more
semanticscholar   +1 more source

Leigh syndrome global patient registry: uniting patients and researchers worldwide

Orphanet Journal of Rare Diseases, 2023
Background Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA.
Sophia Zilber, Kasey Woleben, Simon C. Johnson, Carolina Fischinger Moura de Souza, Danielle Boyce, Kevin Freiert, Courtney Boggs, Souad Messahel, Melinda J. Burnworth, Titilola M. Afolabi, Saima Kayani   +10 more
semanticscholar   +1 more source

Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]

, 2020
The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David, deCarvalho, Mamede, Grosskreutz, Julian, Kiernan, Matthew C, Leigh, P Nigel, Swash, Michael, Turner, Martin R   +6 more
core   +1 more source

Leukocytes mediate disease pathogenesis in the Ndufs4(KO) mouse model of Leigh syndrome

JCI Insight, 2022
Symmetric, progressive, necrotizing lesions in the brainstem are a defining feature of Leigh syndrome (LS). A mechanistic understanding of the pathogenesis of these lesions has been elusive.
Julia C Stokes, R. Bornstein, K. James, Kyung Yeon Park, Kira A. Spencer, K. Vo, J. Snell, Brittany M. Johnson, P. Morgan, M. Sedensky, N. Baertsch, Simon C. Johnson   +11 more
semanticscholar   +1 more source