Results 41 to 50 of about 426 (124)

Characterization of human antiquitin: structural and functional analyses. [PDF]

, 2009
Wong, Chun Pong.Thesis (M.Phil.)--Chinese University of Hong Kong, 2009.Includes bibliographical references (leaves 130-146).Abstract also in Chinese.Thesis Assessment Committee --- p.iDeclaration --- p.iiAcknowledgements --- p.iii摘要 --- p.ivAbstract

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Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines

JIMD Reports, Volume 65, Issue 3, Page 188-203, May 2024.
Abstract Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management. In this follow‐on, a literature review was performed and nutrition management was evaluated through an international dietary
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. van Karnebeek, Annemiek M. J. van Wegberg   +7 more
wiley   +1 more source

Pyridoxine responsiveness in novel mutations of the PNPO gene [PDF]

, 2014
OBJECTIVE: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations.
Struys, Eduard, Abela, Lucia, Paschke, Eduard, Maier, Oliver, Stockler, Sylvia, Schmiedel, Gudrun, Hofer, Doris, Connolly, Mary, Paul, Karl, Mills, Philippa, Wolf, Nicole, Kanz, Simone, Hasselmann, Oswald, Clayton, Peter, Plecko, Barbara, Connolly M, Paul K, Struys E, Hofer D, Abela L, Clayton P, Paschke E, Stockler S, Wolf N, Maier O, Schmiedel G, Kanz S, Mills P, Plecko B, Hasselmann O   +29 more
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Inducibility & overexpression studies of antiquitin in HEK293 and HepG2 cells [PDF]

, 2005
Wong Wei-yan.Thesis (M.Phil.)--Chinese University of Hong Kong, 2005.Includes bibliographical references (leaves 221-242).Abstracts in English and Chinese.Thesis committee --- p.iDeclaration --- p.iiAcknowledgements --- p.iiiAbstract in Chinese --- p.

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

, 2017
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-α-aminoadipic semialdehyde/l-Δ1 ...
Tuschl, Karin, Craigen, William J., De Lonlay, Pascale, Clayton, Peter T., Hemingway, Cheryl, Feillet, François, Marlow, Neil, Mills, Philippa B., Mills, Kevin A., Baxter, Peter, Pike, Mike G., Footitt, Emma J., Aylett, Sarah, Struys, Eduard A., Dulac, Olivier, Schmitt, Bernhard, Varadkar, Sophia, Rennie, Janet, Christensen, Ernst, Hughes, M. Imelda, Nabbout, Rima, Jakobs, Cornelis, Zuberi, Sameer M.   +22 more
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Impaired PLP-dependent metabolism in brain samples from Huntington disease patients and transgenic R6/1 mice [PDF]

, 2019
Oxidative stress has been described as important to Huntington disease (HD) progression. In a previous HD study, we identified several carbonylated proteins, including pyridoxal kinase and antiquitin, both of which are involved in the metabolism of ...
Sorolla, M. Alba, Rodríguez-Colman, María José, Vall-Llaura, Núria, Lucas, José J., Fernández-Nogales, Marta, Ferrer, Isidro (Ferrer Abizanda), Vived, Celia, Cabiscol, Elisa   +7 more
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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
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Development of an in vitro assay for the identification of compounds that inhibit reductase activity of hAASS, therapeutic target of pyridoxine dependent epilepsy [PDF]

, 2022
La epilepsia dependiente de piridoxina (EDP) es una enfermedad rara producida por la mutación en el gen ALDH7A1 que codifica para la antiquitina (ATQ), una enzima que participa en el metabolismo degradativo de la L-lisina.
Cabanas Trevin, Lucía
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Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

, 2012
α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition.
Nota, B., Bakkali, A., Tabarki, B., Al Shahwan, S., Struijs, E.A., Salomons, G.S.   +5 more
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Molecular Defects of Vitamin B6 Metabolism Associated with Neonatal Epileptic Encephalopathy

, 2012
Neonatal epileptic encephalopathy (NEE) is a seizure disorder that occurs within hours from birth and arises from central nervous system (CNS) dysfunctions of various origins, including metabolic or inflammatory conditions, abnormalities of brain ...
Mohini S. Ghatge, Martin K., Roberto Contestabile, Sayali Karve, Verne Schirch, CONTESTABILE, Roberto, Mohini S., Dorothy N., DI SALVO, Martino Luigi, Martin K. Safo, Martino L. Di Salvo   +10 more
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