Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu - Alu recombination [PDF]
Neurology, 2015 To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1.We designed a custom oligonucleotide array with high-density probe coverage across the ALDH7A1 gene.
Heather C. Mefford +9 more
openalex +4 more sources
Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research
Annals of the Child Neurology Society, 2023 Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin II +1 more
doaj +1 more source
First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]
Vojnosanitetski Pregled, 2017 Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M. +3 more
doaj +1 more source
Aldehyde Dehydrogenase 7A1 (ALDH7A1) Is a Novel Enzyme Involved in Cellular Defense against Hyperosmotic Stress [PDF]
Journal of Biological Chemistry, 2010 Mammalian ALDH7A1 is homologous to plant ALDH7B1, an enzyme that protects against various forms of stress, such as salinity, dehydration, and osmotic stress. It is known that mutations in the human ALDH7A1 gene cause pyridoxine-dependent and folic acid-responsive seizures.
Chad Brocker +9 more
openalex +5 more sources
BMC Cancer, 2018 Background Changes in cellular metabolism are now recognized as potential drivers of cancer development, rather than as secondary consequences of disease.
Diana Andrejeva +7 more
doaj +1 more source
Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]
, 2019 Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna +6 more
core +2 more sources
Anopheles stephensi p38 MAPK signaling regulates innate immunity and bioenergetics during Plasmodium falciparum infection. [PDF]
, 2015 BackgroundFruit flies and mammals protect themselves against infection by mounting immune and metabolic responses that must be balanced against the metabolic needs of the pathogens.
Aguirre, Alejandro +13 more
core +1 more source
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy [PDF]
, 2016 Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation.
Champion, Mike +19 more
core +1 more source
A Pathway-centric Approach to Rare Variant Association Analysis [PDF]
, 2016 Current endeavours in rare variant analysis are typically underpowered when investigating association signals from individual genes. We undertook an approach to rare variant analysis which utilises biological pathway information to analyse functionally ...
Campbell, Colin +3 more
core +1 more source
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy [PDF]
, 2022 Deficiency of antiquitin (α-aminoadipic semialdehyde dehydrogenase), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B6-dependent epilepsy (PDE-ALDH7A1). Despite seizure control with high dose pyridoxine (PN)
Abela, Lucia +7 more
core +1 more source