Results 101 to 110 of about 6,089,967 (287)
Potentially Diagnostic Electron Paramagnetic Resonance Spectra Elucidate the Underlying Mechanism of Mitochondrial Dysfunction in the Deoxyguanosine Kinase Deficient Rat Model of a Genetic Mitochondrial DNA Depletion Syndrome [PDF]
, 2016 A novel rat model for a well-characterized human mitochondrial disease, mitochondrial DNA depletion syndrome with associated deoxyguanosine kinase (DGUOK) deficiency, is described.
Bennett, Brian +8 more
core +2 more sources
Insect Science, EarlyView.The role of 3 mitochondrial complex I gene in host expansion of Bactrocera tau was verified by CRISPR/Cas9 gene editing system. A stable homogenous strain (Btndufa7‐/‐) of B.tau was established after silencing Ndufa7. The reduced size of larvae and pupae of Ndufa7 knockout strain was first found.Then different levels of fitness and relative expression ...
Wei Shi +3 more
wiley +1 more source
Leigh syndrome in an infant: autopsy and histopathology findings
Autopsy and Case Reports, 2021 Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia ...
Arushi Gahlot Saini +4 more
doaj
Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation
Molecular Genetics and Metabolism Reports, 2016 Leigh syndrome is a mitochondrial disease caused by mutations in different genes, including ATP6A for which no known therapy is available. We report a case of adult-onset Leigh syndrome with response to immunotherapy.
Miguel Chuquilin +3 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2022 Background The NADH:ubiquinone oxidoreductase complex assembly factor gene (NDUFAF5) has been linked to the occurrence of Leigh syndrome, but few causative mutations have been identified. Here we report a rare case of Leigh syndrome in an infant who died
Yan Wen, Guoyan Lu, Lina Qiao, Yifei Li
doaj +1 more source
Clinical syndromes associated with Coenzyme Q10 deficiency. [PDF]
, 2018 Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level.
Alc\ue1zar-Fabra, Maria +2 more
core +1 more source
Cell Proliferation, EarlyView.Pioglitazone suppresses mitochondrial excessive ROS generation and COX‐2 level through inhibition of Drp‐1 mediated mitochondrial fission in an AMPK‐dependent manner in LS. ABSTRACT Loss of function mutations of NDUFS4 resulted in Leigh syndrome, which is a progressive neurodegenerative disease and characterized by mitochondrial oxidative stress ...
Jie Luo +5 more
wiley +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
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]
, 2017 NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico +21 more
core +2 more sources
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, EarlyView.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source