aldh7a1 regulates eye and limb development in zebrafish. [PDF]
PLoS ONE, 2014 Uveal coloboma is a potentially blinding congenital ocular malformation caused by failure of the optic fissure to close during development. Although mutations in numerous genes have been described, these account for a minority of cases, complicating ...
Holly E Babcock +7 more
doaj +5 more sources
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes [PDF]
Molecular Genetics and Metabolism Reports, 2022 Background: Little is known about pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in adulthood, as the genetic basis of the disorder has only been elucidated 15 years ago.
L.A. Tseng +9 more
doaj +4 more sources
ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy [PDF]
Pediatric Neurology Briefs, 2010 Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha ...
J Gordon Millichap
doaj +4 more sources
Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. [PDF]
PLoS Genetics, 2010 Osteoporosis is a major public health problem. It is mainly characterized by low bone mineral density (BMD) and/or low-trauma osteoporotic fractures (OF), both of which have strong genetic determination.
Yan Guo +32 more
doaj +5 more sources
Identification of ALDH7A1 as a DNA-methylation-driven gene in lung squamous cell carcinoma [PDF]
Annals of MedicineBackground Deoxyribose nucleic acid (DNA) methylation is an important epigenetic modification that plays an important role in the occurrence and development of tumors.
Gaofeng Liang +5 more
doaj +4 more sources
Mutations in the aldh7a1 gene cause pyridoxine-dependent seizures [PDF]
Arquivos de Neuro-Psiquiatria, 2008 in this gene have been shown to be present in the majority of patients with a clinical diagnosis of pyridoxinedependent seizures 3-6 . These mutations cause a deficien cy in α-aminoadipic semialdehyde (α-AASA) dehydrogenase, indirectly leading to a secondary deficiency in pyri doxal-5-phosphate (P5P), which causes seizures. Administration of pyridoxine
Jasper V. Been +4 more
doaj +9 more sources
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. [PDF]
PLoS ONE, 2014 Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease.
Zhixian Yang +7 more
doaj +5 more sources
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
doaj +2 more sources
A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency [PDF]
Frontiers in Genetics, 2022 Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6–dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5′-phosphate oxidase ...
Xianru Jiao +4 more
doaj +2 more sources
Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency. [PDF]
J Inherit Metab DisAbstractALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α‐Aminoadipic semialdehyde (α‐AASA) and Δ1‐piperideine‐6‐carboxylate (P6C), which accumulate because of the block in ...
Khalil Y +9 more
europepmc +6 more sources