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Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
TLDR
It is concluded that neuron loss occurs shortly after the encephalopathical crisis and does not progress, and the pathogenesis of selective neuronal loss cannot be explained on the basis of regional genetic and/or metabolic differences. Expand
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity*
TLDR
It is reported that MMA induces neuronal damage in cultures of embryonic rat striatal cells at a concentration range encountered in affected patients, and the involvement of secondary excitotoxic mechanisms in MMA-induced cell damage is suggested. Expand
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.
TLDR
The results favour the hypothesis that toxic metabolites, in particular propionyl-CoA, are involved in the pathogenesis of inherited disorders of propionate metabolism, sharing mechanistic similarities with Propionate toxicity in micro-organisms. Expand
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
TLDR
Investigation of L-lysine metabolism showed an accumulation of deuterium-labeled 2-oxoadipate only in noncomplemented cells, demonstrating that DHTKD1 codes for the enzyme mediating the last unresolved step in the L- Lysine-degradation pathway. Expand
Intracerebral accumulation of glutaric and 3‐hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl‐CoA
TLDR
It is proposed that an intracerebral de’novo synthesis and subsequent trapping of GA and 3‐OH‐GA should be considered as a biochemical risk factor for neurodegeneration in GCDH deficiency. Expand
Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach
TLDR
This review aims to give a comprehensive overview on recent pathomechanistic concepts for methylmalonic acidurias and hypothesize that renal and cerebral pathomeschanisms share some similarities, such as an involvement of dicarboxylic acid transport. Expand
Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
TLDR
This study provides for the first time a biochemical proof of principle for metabolic treatment in glutaric aciduria type I and suggests that further optimization of treatment could be achieved by exploitation of competition between L-lysine and L-arginine at physiological barriers and enhancement of peroxisomal L- Elysine oxidation and glutARic acid breakdown. Expand
Xanthohumol‐induced transient superoxide anion radical formation triggers cancer cells into apoptosis via a mitochondria‐mediated mechanism
TLDR
Mitochondria is identified as a novel cellular target of XN action, resulting in increased O2−· production, disruption of cellular redox balance and mitochondrial integrity, and subsequent apoptosis, which triggers cancer cells into apoptosis via a mitochondria‐mediated mechanism. Expand
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
TLDR
The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood. Expand
T cell activation is driven by an ADP-dependent glucokinase linking enhanced glycolysis with mitochondrial reactive oxygen species generation.
TLDR
It is shown that TCR-triggered activation of ADP-dependent glucokinase (ADPGK), an alternative, glycolytic enzyme typical for Archaea, mediates generation of the oxidative signal and overexpression of ADPGK potentiates them. Expand
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