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 +11 more
semanticscholar +1 more source
TOP2A and EZH2 Provide Early Detection of an Aggressive Prostate Cancer Subgroup. [PDF]
, 2017 Purpose: Current clinical parameters do not stratify indolent from aggressive prostate cancer. Aggressive prostate cancer, defined by the progression from localized disease to metastasis, is responsible for the majority of prostate cancer–associated ...
Alshalalfa, Mohammed, +24 more
core +2 more sources
Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
Frontiers in Neurology, 2019 Background: Leigh syndrome is a mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system.
Sunho Lee +3 more
doaj +1 more source
Stem Cell Research, 2021 Leigh syndrome is a progressive neurodegenerative disease due to defects in the mitochondrial genes, including mitochondrial DNA cytochrome b (MTCYB) mutation, that typically begins in infancy or early childhood.
Daryeon Son +3 more
doaj +1 more source
Intermediate filament–membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength [PDF]
, 2002 By tethering intermediate filaments (IFs) to sites of intercellular adhesion, desmosomes facilitate formation of a supercellular scaffold that imparts mechanical strength to a tissue.
Amargo, Evangeline V. +11 more
core +5 more sources
Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
Archives of Academic Emergency Medicine, 2017 Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi +3 more
doaj +1 more source
Leigh syndrome: A rare mitochondrial disorder
Bangabandhu Sheikh Mujib Medical University Journal, 2016 Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted.
Gopen Kumar Kundu +3 more
doaj +1 more source
Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature
Clinical Case Reports, 2022 Isoleucyl‐tRNA synthetase 2 (IARS2) encodes mitochondrial isoleucine‐tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease.
Jariya Upadia +5 more
doaj +1 more source
Potential therapeutic use of the ketogenic diet in autism spectrum disorders. [PDF]
, 2014 The ketogenic diet (KGD) has been recognized as an effective treatment for individuals with glucose transporter 1 (GLUT1) and pyruvate dehydrogenase (PDH) deficiencies as well as with epilepsy.
Dueñas, Nadia +2 more
core +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 +10 more
doaj +1 more source