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 +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 +4 more sources
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study [PDF]
Frontiers in NeurologyObjectiveTo summarize the clinical features and the spectrum of ALDH7A1 gene variants in Chinese children with pyridoxine-dependent epilepsy (PDE).MethodsClinical data were collected from six pediatric patients with PDE treated at Linyi People’s Hospital
Xixi Yu +5 more
doaj +2 more sources
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
Frontiers in NeurologyPurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Vibeke Arntsen +14 more
doaj +3 more sources
Tellimagrandin II Stimulates Inflammasomes by Causing an Accumulation of 3-Aminopropanal, Which Promotes Apoptosis of Endometriotic Cells While Inhibiting Invasion [PDF]
Journal of Inflammation ResearchWeisen Fan,* Yongjia Zhang,* Ruihua Zhao Gynecology Department, Guang ‘anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, 100053, China*These authors contributed equally to this workCorrespondence: Ruihua Zhao ...
Fan W, Zhang Y, Zhao R
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Restricting lysine normalizes toxic catabolites associated with ALDH7A1 deficiency in cells and mice
Cell ReportsLysine metabolism converges at α-aminoadipic semialdehyde dehydrogenase (ALDH7A1). Rare loss-of-function mutations in ALDH7A1 cause a toxic accumulation of lysine catabolites, including piperideine-6-carboxylate (P6C), that are thought to cause fatal seizures in children unless strictly managed with dietary lysine reduction.
Abisola Kehinde +2 more
exaly +3 more sources
Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria [PDF]
BMC NeurologyBackground Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the ...
Rida Jaber +5 more
doaj +2 more sources
Global gene expression profiling of individual human oocytes and embryos demonstrates heterogeneity in early development [PDF]
, 2013 Early development in humans is characterised by low and variable embryonic viability, reflected in low fecundity and high rates of miscarriage, relative to other mammals.
Brison, Daniel R +4 more
core +17 more sources
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.
Dowa, Yuri +5 more
openaire +2 more sources