Results 21 to 30 of about 2,694,828 (149)

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria

BMC Neurology
Background 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, Hadi Salame, Mostafa Zeindeen, Ali Jawad, Hassan Fawaz, Diana Alasmar   +5 more
doaj   +2 more sources

Neonatal-onset developmental and epileptic encephalopathy: High genetic yield and long-term outcomes in a multicenter southern European cohort. [PDF]

Epilepsia Open
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Sala-Coromina J, Marcé-Grau A, D'Onofrio G, Riva A, Pons R, Kollia E E, Raspall-Chaure M, López-Laso E, López-Pisón J, Verdura E, Schlüter A, Casellas-Vidal D, Camós-Carreras M, Iacomino M, Spalice A, Parisi P, de la Ossa-Vela AM, Vicente-Rasoamalala M, Pujol A, Salpietro V, Striano P, Macaya A.   +21 more
europepmc   +2 more sources

In Vitro Cytotoxic Activity of Coleus hadiensis Methanolic Extract: Metabolic and Transcriptomic Effects in Lung Cancer Cell Line [PDF]

Molecules
Cancer cells resort to metabolic reprogramming to sustain proliferation. Lung cancer has one of the highest mortality rates of all types of cancer. An important factor in its high mortality rate is its tumors’ ability to undergo significant metabolic ...
Ana L. Valdez-Arellanes, Mónica A. Ramírez-Cabrera, Eder U. Arredondo-Espinoza, Emanuel Hernández-Núñez, Monica N. Sanchez-González, Isaias Balderas-Rentería, Karla Ramirez-Estrada   +6 more
doaj   +2 more sources

An integrative bioinformatic and Mendelian randomization study exploring the role of polyunsaturated fatty acid metabolism in laryngeal cancer [PDF]

Discover Oncology
Objective This study aimed to explore potential associations between polyunsaturated fatty acid (PUFA) metabolism and laryngeal cancer (LC) using a combination of Mendelian randomization (MR) and integrative bioinformatics, while investigating its ...
Lina Peng, Haibin Ma, Longchao Qin, Qian Zhao, Xueyan Ren, Zihao Wang, Jing Hu, Haiping Han   +7 more
doaj   +2 more sources

Integrative Analysis of Transcriptomics and Metabolomics Reveals the Effects of Western-Style Diets on Spleen Function [PDF]

Biology
The spleen is essential for immunity, mediating host defense against pathogens and regulating immunological homeostasis. Western-style diets commonly cause the aggregation of body fat and the emergence of obesity.
Shengguo Tang, Dongfang Li, Yanna Ma, Zhiying Zhao, Liangyuan Peng, Shuchao Liao, Haiming Ma, Hongjiang Wei   +7 more
doaj   +2 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   +1 more source

ALDH7A1 Gene and Its Related Pyridoxine-Dependent Epilepsy

, 2021
Despite 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
Romano, Catia, Falsaperla, Raffaele, Garozzo, Maria Teresa, Lombardo, Giulia, La Mendola, Flavia Maria Consuelo, Timpanaro Tiziana, Caruso, Daniela, Presti, Santiago, Praticò, Elena R., Zanghì, Antonio, Timpanaro, Tiziana, Tiziana Timpanaro, Raffaele Falsaperla, Catia Romano, Flavia Maria Consuelo La Mendola, Giulia Lombardo, Antonio Zanghì, Santiago Presti, Maria Teresa Garozzo, Elena R. Praticò, Daniela Caruso   +20 more
core   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2010
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-{alpha}-aminoadipic semialdehyde/L-{Delta}
Hemingway, Cheryl, François Feillet, Pascale De Lonlay, Sarah Aylett, Struys, E A, Dulac, Olivier, Schmitt, Bernhard, Bernhard Schmitt, Jakobs, C, Rennie, J, Marlow, N., Hughes, M. I., De Lonlay, Pascale, Pike, M G, Mills, P B, Dulac, O, Feillet, François, Zuberi, S. M., Eduard A. Struys, Mills, Kevin A, William J. Craigen, Christensen, Ernst, Schmitt, B, De Lonlay, P, Footitt, E. J., Janet Rennie, Christensen, E., Emma J. Footitt, Tuschl, Karin, Struys, E. A., Hemingway, C., Marlow, N, Baxter, P, Hughes, M Imelda, Aylett, S, De Lonlay, P., Rennie, Janet, Sameer M. Zuberi, Mills, K A, Struys, Eduard A, Tuschl, K, Varadkar, S, Rima Nabbout, Karin Tuschl, Aylett, Sarah, Clayton, P. T., Varadkar, Sophia, Philippa B. Mills, Footitt, E J, Zuberi, S M, Ernst Christensen, Aylett, S., Peter Baxter, Clayton, Peter T, Neil Marlow, Peter T. Clayton, M. Imelda Hughes, Jakobs, Cornelis, Tuschl, K., Schmitt, B., Baxter, P., Clayton, P T, Sophia Varadkar, Craigen, W J, Footitt, Emma J, Feillet, F., Cheryl Hemingway, Hughes, M I, Dulac, O., Nabbout, Rima, Pike, M. G., Mike G. Pike, Feillet, F, Pike, Mike G, Rennie, J., Mills, P. B., Christensen, E, Marlow, Neil, Kevin A. Mills, Olivier Dulac, Zuberi, Sameer M, Craigen, William J, Nabbout, R, Mills, K. A., Varadkar, S., Baxter, Peter, Mills, Philippa B, Nabbout, R., Jakobs, C., Hemingway, C, Cornelis Jakobs, Craigen, W. J.   +91 more
core   +1 more source

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination [PDF]

, 2015
OBJECTIVE To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1.
Mills, Philippa B, Zemel, Matthew, Cook, Joseph, Gospe, Sidney M, Mefford, Heather C, Geraghty, Eileen, Clayton, Peter T, Nordli, Douglas R, Paul, Karl, Plecko, Barbara, Mills PB, Paul K, Gospe SM, Geraghty E, Clayton PT, Zemel M, Cook J, Nordli DR, Mefford HC, Plecko B   +19 more
core   +1 more source

Treatable cause of refractory seizures in an infant with a novel mutation

Journal of Pediatric Neurosciences, 2021
Pyridoxine-dependent epilepsy is a treatable cause of epilepsy, which is very well known. It is most commonly caused by mutations in ALDH7A1 and PNPO genes. A 5-month-old infant presented with refractory seizures.
Ruchi R Mittal, Ranjith Kumar Manokaran, Saji James   +2 more
doaj   +1 more source