Results 21 to 30 of about 126 (110)
Frontiers in Pediatrics, 2021 Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging.
Katarína Kušíková +7 more
doaj +1 more source
Protein coding mitochondrial-targeted RNAs rescue mitochondrial disease in vivo
Neurobiology of Disease, 2018 Mitochondrial encephalomyopathies (MEs) result from mutations in mitochondrial genes critical to oxidative phosphorylation. Severe and untreatable ME results from mutations affecting each endogenous mitochondrial encoded gene, including all 13 ...
Desiree M. Markantone +5 more
doaj +1 more source
PLoS ONE, 2011 Numerous mitochondrial DNA mutations cause mitochondrial encephalomyopathy: a collection of related diseases for which there exists no effective treatment.
Alicia M Celotto +3 more
doaj +1 more source
Frontiers in Neurology, 2019 Mitochondrial complex III deficiency nuclear type 2 is an autosomal-recessive disorder caused by mutations in TTC19 gene. TTC19 is involved in the preservation of mitochondrial complex III, which is responsible for transfer of electrons from reduced ...
Parham Habibzadeh +13 more
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Clinical manifestations of dual‐gene variants in retinitis pigmentosa
Acta Ophthalmologica, EarlyView.Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram +11 more
wiley +1 more source
Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions
Brain Pathology, EarlyView.An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich +5 more
wiley +1 more source
Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report
Clinical Genetics, EarlyView.This report detailed the clinical findings and the biochemical phenotype of a 3‐year‐old girl with ReNU syndrome. Circulating biomarkers and a muscle biopsy s uggested mild mitochondrial abnormalities. Severe plasmalogen deficiency was also observed, comparable to defects of peroxisomal plasmalogen biosynthesis.
Irene De Biase +4 more
wiley +1 more source
Sleep and circadian defects in a Drosophila model of mitochondrial encephalomyopathy
Neurobiology of Sleep and Circadian Rhythms, 2019 Mitochondrial encephalomyopathies (ME) are complex, incurable diseases characterized by severe bioenergetic distress that can affect the function of all major organ systems but is especially taxing to neuromuscular tissues. Animal models of MEs are rare,
Keri J. Fogle +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2784-2789, December 2026.ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness +11 more
wiley +1 more source