Results 31 to 40 of about 160,746 (308)

Mitochondrial agents for bipolar disorder [PDF]

open access: yes, 2018
BACKGROUND: Bipolar disorder is a chronic and often debilitating illness. Current treatment options (both pharmaco- and psychotherapy) have shown efficacy, but for many leave a shortfall in recovery.
Pereira, C   +6 more
core   +2 more sources

Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration [PDF]

open access: yes, 2009
Background Parkinson's disease (PD) is an adult-onset movement disorder of largely unknown etiology. We have previously shown that loss-of-function mutations of the mitochondrial protein kinase PINK1 (PTEN induced putative kinase 1) cause the recessive ...
Rüb Udo   +107 more
core   +1 more source

Epilepsy in mitochondrial disorders [PDF]

open access: yesSeizure, 2012
Information about epilepsy in mitochondrial disorders is scarce although a number or syndromic and non-syndromic mitochondrial disorders frequently manifest with focal or generalized seizures. Aim of the review was to describe epilepsy in syndromic and non-syndromic mitochondrial disorders with epilepsy as a dominant or collateral feature of the ...
Finsterer, Josef, Zarrouk Mahjoub, Sinda
openaire   +2 more sources

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity [PDF]

open access: yes, 2009
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors ...
Achilli Alessandro   +49 more
core   +1 more source

Metabolic effects of bezafibrate in mitochondrial disease

open access: yesEMBO Molecular Medicine, 2020
Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open‐label observational experimental
Hannah Steele   +16 more
doaj   +1 more source

Metabolic consequences of neuronal mitochondrial fission ablation [PDF]

open access: yes, 2016
Dynamin-related protein 1 (Drp1), the main mammalian mediator of mitochondrial fission, has an especially important role in neuronal development, such that its deletion gives rise to pre- or perinatal lethality.
Restelli, Lisa Michelle
core   +1 more source

Analyzing the Potential Biological Determinants of Autism Spectrum Disorder: From Neuroinflammation to the Kynurenine Pathway

open access: yesBrain Sciences, 2020
Autism Spectrum Disorder (ASD) etiopathogenesis is still unclear and no effective preventive and treatment measures have been identified. Research has focused on the potential role of neuroinflammation and the Kynurenine pathway; here we review the ...
Rosa Savino   +9 more
doaj   +1 more source

Mitochondrial disorders and the eye [PDF]

open access: yesEye and Brain, 2011
The clinical significance of disturbed mitochondrial function in the eye has emerged since mitochondrial DNA (mtDNA) mutation was described in Leber's hereditary optic neuropathy. The spectrum of mitochondrial dysfunction has become apparent through increased understanding of the contribution of nuclear and somatic mtDNA mutations to mitochondrial ...
Nicole J, Van Bergen   +4 more
openaire   +5 more sources

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

open access: yesJIMD Reports, 2022
Biallelic pathogenic variants in NDUFS8, a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clinical spectrum
Milena M. Andzelm   +10 more
doaj   +1 more source

Treatment of Mitochondrial Disorders [PDF]

open access: yesCurrent Treatment Options in Neurology, 2014
While numerous treatments for mitochondrial disorders have been suggested, relatively few have undergone controlled clinical trials. Treatment of these disorders is challenging, as only symptomatic therapy is available. In this review we will focus on newer drugs and treatment trials in mitochondrial diseases, with a special focus on medications to ...
Sreenivas, Avula   +4 more
openaire   +2 more sources

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