Results 11 to 20 of about 1,834 (152)

A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in : secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment [PDF]

Therapeutic Advances in Rare Disease
Background: Pyridoxine-dependent epilepsy (PDE) due to biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1) is an metabolic disease of lysine catabolism.
Anastasia Ambrose, Morganne McCabe, Shalini Bahl, David Sinasac, Thomas Snyder, Saadet Mercimek-Andrews   +5 more
doaj   +2 more sources

Tanshinone IIA inhibits heat-induced growth of p53-mutant Huh-7 hepatocellular carcinoma by modulating osmotic homeostasis and glycolysis through targeting ALDH7A1 [PDF]

Cell Death Discovery
Thermal ablation offers minimally invasive treatment options for hepatocellular carcinoma (HCC) therapy. However, local recurrence due to sublethal temperatures enhances tumor cell survival.
Hao Li, Shuguang Ju, Jiacheng Wang, Donglin Kuang, Pengfei Chen, Mengfan Zhang, Ruijie Qian, Chao Liang, Daqian Han, Xuhua Duan   +9 more
doaj   +2 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, Levinus A. Bok, Michèl A.A.P. Willemsen, Eduard A. Struys, Cornelis Jakobs   +4 more
doaj   +7 more sources

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow [PDF]

International Journal of Neonatal Screening
Pyridoxine-dependent epilepsy (PDE) represents a group of rare developmental and epileptic encephalopathies. The most common PDE is caused by biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1; OMIM #266100), which encodes α-aminoadipate semialdehyde (
Mylène Donge, Sandrine Marie, Amandine Pochet, Lionel Marcelis, Geraldine Luis, François Boemer, Clément Prouteau, Samir Mesli, Matthias Cuykx, Thao Nguyen-Khoa, David Guénet, Aurélie Empain, Magalie Barth, Benjamin Dauriat, Cécile Laroche-Raynaud, Corinne De Laet, Patrick Verloo, An I. Jonckheere, Manuel Schiff, Marie-Cécile Nassogne, Joseph P. Dewulf   +20 more
doaj   +2 more sources

ALDH7A1 Deficiency and Pyridoxine-Dependent Epilepsy

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

ALDH7A1 rs12514417 polymorphism may increase ischemic stroke risk in alcohol-exposed individuals

Nutrition & Metabolism, 2022
Background: Epidemiological studies have identified common risk factors for cerebral stroke worldwide. Some of these factors include hypertension, diabetes, smoking, excessive drinking, and dyslipidemia.
Chun-Hsiang Lin, Oswald Ndi Nfor, Chien-Chang Ho, Shu-Yi Hsu, Disline Manli Tantoh, Yi-Chia Liaw, Daria Mochly-Rosen, Che-Hong Chen, Yung-Po Liaw   +8 more
doaj   +3 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, L. Teela, M.C. Janssen, L.A. Bok, M.A.A.P. Willemsen, R.F. Neuteboom, L. Haverman, S.M. Gospe, Jr, C.R. Coughlin, 2nd, C.D.M. van Karnebeek   +9 more
doaj   +3 more sources

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy [PDF]

Molecular Therapy: Nucleic Acids
Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disorder of lysine catabolism caused by bi-allelic variants in ALDH7A1. This enzyme deficiency leads to accumulation of neurotoxic metabolites, pyridoxal-phosphate inactivation, and ...
Imke M.E. Schuurmans, Udo Engelke, Muna Abedrabbo, Sofía Puvogel, Rachel Mijdam, Gijs-Jan Scholten, Sara B. van Katwijk, Astrid Oudakker, Hilal H. Al-Shekaili, Dirk J. Lefeber, Blair R. Leavitt, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +13 more
doaj   +2 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, Li-Jun Tan, Shu-Feng Lei, Tie-Lin Yang, Xiang-Ding Chen, Feng Zhang, Yuan Chen, Feng Pan, Han Yan, Xiaogang Liu, Qing Tian, Zhi-Xin Zhang, Qi Zhou, Chuan Qiu, Shan-Shan Dong, Xiang-Hong Xu, Yan-Fang Guo, Xue-Zhen Zhu, Shan-Lin Liu, Xiang-Li Wang, Xi Li, Yi Luo, Li-Shu Zhang, Meng Li, Jin-Tang Wang, Ting Wen, Betty Drees, James Hamilton, Christopher J Papasian, Robert R Recker, Xiao-Ping Song, Jing Cheng, Hong-Wen Deng   +32 more
doaj   +4 more sources

Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect. [PDF]

Mol Genet Metab Rep
Pyridoxine-Dependent Epilepsy (PDE) is an autosomal recessive disorder caused by biallelic variants in ALDH7A1. The most common presentation is intractable seizures in the neonatal/early infantile period, which respond to pyridoxine. Other manifestations include perinatal asphyxia, hypoglycemia, and neuroimaging abnormalities.
Bottino M, Boyer M, Steenari MR, Barrick R, Abdenur JE.   +4 more
europepmc   +3 more sources