ALDH7A1 inhibits the intracellular transport pathways during hypoxia and starvation to promote cellular energy homeostasis [PDF]
Nature Communications, 2019 Intracellular vesicle transport can be regulated by Brefeldin‐A ADP‐Ribosylated Substrate (BARS) during vesicle fission. Here, the authors show that NADH generated by aldehyde dehydrogenase 7A1 (ALDH7A1) inhibits intracellular transport by targeting BARS
Jia-Shu Yang +10 more
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Stem Cell ResearchALDH7A1 encodes for the enzyme catalyzing the third step of the lysine degradation pathway. Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine dependent epilepsy (PDE), of which the c.1279G>C (p.Glu427Gln) variant is the most ...
Imke M.E. Schuurmans +4 more
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New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse. [PDF]
Brain Communvan Karnebeek CDM +12 more
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GSTP1 knockdown induces metabolic changes affecting energy production and lipid balance in pancreatic cancer cells [PDF]
Molecular & Cellular OncologyPancreatic ductal adenocarcinoma (PDAC) is an aggressive cancer with limited treatment options, underscoring the need for novel therapeutic targets. Metabolic reprogramming is a hallmark of PDAC, enabling tumor cells to sustain rapid proliferation and ...
Jenna N. Duttenhefner, Katie M. Reindl
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Molecular Genetics and Metabolism Reports, 2014 Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA).
Saadet Mercimek-Mahmutoglu +6 more
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Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect. [PDF]
Mol Genet Metab RepBottino M +4 more
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A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation [PDF]
, 2023 Abstract Background Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease, usually associated with neonatal seizures, about 75% of the patients suffered from intellectual or developmental delay (IDD). Antiepileptic drugs are often difficult to control seizures or incomplete control, but pyridoxine administration can ...
Feifei Luo +5 more
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Structural and kinetic studies of human aldh7a1 and aldh9a1 [PDF]
, 2021 The regulation and detoxification of endogenously and exogenously derived aldehydes is paramount to cellular survival due to the highly reactive nature of aldehydes as electrophiles. Human aldehyde dehydrogenases (ALDHs) are a superfamily of oxidoreductase enzymes that have critical roles in this regulation and detoxification.
Jesse W. Wyatt
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A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations [PDF]
Oxford Medical Case Reports, 2020 Abstract Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on the day of birth.
Yuri Dowa +5 more
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Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency [PDF]
Genetics, 2017 AbstractPyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated ...
Izabella A. Pena +16 more
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