Results 171 to 180 of about 3,183 (188)

Precision gene diagnosis and treatment of epilepsy: a new frontier in medical care. [PDF]

Acta Epileptol
Mu J, Jiang W, Tang Y, Zhou D, Liao W.
europepmc   +1 more source

Precision diagnosis and treatment of vitamin metabolism-related epilepsy. [PDF]

Acta Epileptol
Gan Y, Li G, Wei Z, Feng Y, Shi Y, Deng Y.   +5 more
europepmc   +1 more source

Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies. [PDF]

Mol Diagn Ther
Andjelkovic M, Klaassen K, Skakic A, Marjanovic I, Kravljanac R, Djordjevic M, Vucetic Tadic B, Kecman B, Pavlovic S, Stojiljkovic M.   +9 more
europepmc   +1 more source

Pyridoxine-dependent epilepsy:Towards newborn screening [PDF]

Tseng, L.A.
core  

Deciphering Histamine Pathway Networks in the Human Brain: A Multimodal Approach to Cognition and Psychiatric Disorders

Martins D, Veronese M, Wamelen Dv, Shan L, Howes O, Hampshire A, Turkheimer F, Williams SC.   +7 more
europepmc   +1 more source

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ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

Journal of Pediatric Neurology, 2021
AbstractDespite being classically reported as caused by mutations in solute carriers genes (SLC2A1), it has been recently shown that also mutations in ALDH7A1 can cause pyridoxine-dependent epilepsy (PDE). ALDH7A1 is a gene encoding for the antiquitin, an enzyme that catalyzes the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-α ...
La Mendola, Flavia Maria Consuelo, Timpanaro, Tiziana, Caruso, Daniela, Garozzo, Maria Teresa, Presti, Santiago, Romano, Catia, Praticò, Elena R., Lombardo, Giulia, Zanghì, Antonio, Falsaperla, Raffaele   +9 more
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EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1

Experimental Cell Research, 2021
Aldehyde dehydrogenase 7 family member A1 (ALDH7A1) is an enzyme catalyzing lipid peroxidation of fatty aldehydes. It plays a critical role in sustaining high oxygen consumption rate (OCR) and ATP production in pancreatic ductal adenocarcinoma (PADC).
Mingzhu Tan, Jun Meng, Xiaojuan Sun, Xiaowei Fu, Ruihao Wang   +4 more
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Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

Molecular Genetics and Metabolism, 2012
We report two siblings with atypical pyridoxine-dependant epilepsy, modest elevation of biomarkers, in which the open reading frame and the splice sites of ALDH7A1 did not show any mutations. Subsequent genetic analysis revealed a deep homozygous intronic mutation in ALDH7A1 resulting in two types of transcripts: the major transcript containing a ...
Milh, M., Pop, A., Kanhai, W., Villeneuve, N., Cano, A., Struijs, E.A., Salomons, G.S., Chabrol, B., Jakobs, C.A.J.M.   +8 more
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Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in theALDH7A1gene

Paediatrics and International Child Health, 2013
Pyridoxine-dependent epilepsy (PDE) is an inborn error of metabolism resulting from antiquitin deficiency. There is marked elevation of α-amino adipic semi-aldehyde (αAASA), piperidine-6-carboxylate (P6C) and pipecolic acid. The diagnosis can be confirmed by identifying the mutation in the ALDH7A1 gene in chromosome 5q3l.
Jagadeesh, S., Suresh, B., Murugan, V., Suresh, S., Salomons, G.S., Struys, E.A., Jacobs, C.   +6 more
openaire   +4 more sources