Results 1 to 10 of about 3,165 (170)

Identification of ALDH7A1 as a DNA-methylation-driven gene in lung squamous cell carcinoma [PDF]

Annals of Medicine
Background Deoxyribose nucleic acid (DNA) methylation is an important epigenetic modification that plays an important role in the occurrence and development of tumors.
Gaofeng Liang, Jinxian He, Tian Chen, Liang Zhang, Kaizhong Yu, Weiyu Shen   +5 more
doaj   +4 more sources

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency [PDF]

Clinical Case Reports
Pyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine.
Maryam Saeedi, Kayvan Mirnia, Sahar Sedighzadeh, Razieh Sangsari   +3 more
doaj   +4 more sources

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns [PDF]

Frontiers in Genetics
The first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in routine clinical practice. Antiquitin deficiency, also referred to as pyridoxine-dependent epilepsy (PDE-ALDH7A1), represents an inherited ...
Patryk Lipiński, Patryk Lipiński, Katarzyna Wójcicka-Kowalczyk, Anna Bogdańska, Ewa Ehmke, Magdalena Pajdowska, Katarzyna Skrzypek, Agnieszka Charzewska, Dorota Hoffman-Zacharska   +8 more
doaj   +4 more sources

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency. [PDF]

J Inherit Metab Dis
AbstractALDH7A1 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, Footitt E, Vootukuri R, Wempe MF, Coughlin CR, Batzios S, Wilson MP, Kožich V, Clayton PT, Mills PB.   +9 more
europepmc   +5 more sources

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, Sunit Dutta, Ramakrishna P Alur, Chad Brocker, Vasilis Vasiliou, Susan Vitale, Mones Abu-Asab, Brian P Brooks   +7 more
doaj   +4 more sources

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 Pena, Nathalie Lepage, Pranesh Chakraborty   +2 more
exaly   +5 more sources

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

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

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