Results 101 to 110 of about 2,219 (171)

Hypoxia-induced ALDH7A1 expression protects colorectal cancer cells from oxidative stress and DNA damage via a HIF-1-independent mechanism

Tumour hypoxia is associated with increased invasiveness, metastasis, and drug resistance; however, its impact on drug-metabolising enzymes remains poorly understood.
Mark Sutherland, Abdullahi Magaji Dauda, Krishna Khullar, Klaus Pors, Lina Elsalem, Sneha Smarakan, Jan S Moreb, Simon J Allison, Steven D Shnyder, Maria Sadiq, Syed Ali Khurram, Roger M Phillips   +11 more
core   +1 more source

Aldh7a1 morpholino knockdown embryos show defects in pectoral fin and cartilage development.

, 2014
(A–B′) Fin phenotypes long (l), medium (m), and short (s) classified by length at 5 dpf, marked by black asterisks. All control MO embryos displayed “Long” fins (A) and Aldh7a1MO injected embryos develop medium (B, 6%) or short (B′, 10%) fin.
Chad Brocker (184166), Brian P. Brooks (366590), Ramakrishna P. Alur (366582), Susan Vitale (594543), Mones Abu-Asab (80768), Holly E. Babcock (594541), Vasilis Vasiliou (184172), Sunit Dutta (594542)   +7 more
core   +1 more source

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   +1 more source

Data_Sheet_1_Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.pdf

PurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Vibeke Arntsen (17962370), Erle Kristensen (17962379), Guste Kupliauskiene (17962382), Trond Sand (81210), Alma Sikiric (17962376), Laurence A. Bindoff (10846037), Eylert Brodtkorb (11842434), Ahmed Jamali (17962373), Sigurbjörg Stefansdottir (17962385), Trine Tangeraas (9104654)   +9 more
core   +1 more source

Епілептичні енцефалопатії при вроджених порушеннях метаболізму в дітей раннього віку: фокус на піридоксин-залежній епілепсії

Сучасна педіатрія: Україна
Вроджені порушення метаболізму (ВПМ) є однією з найбільш значущих і водночас недостатньо діагностованих причин епілептичних енцефалопатій у дітей раннього віку. Колектив відділення дитячої неврології ДУ «Всеукраїнський центр материнства та дитинства НАМН
Yu.H. Antypkin, L.H. Kyrylova, O.O. Miroshnykiv, O.O. Dolenko, V.M. Badiuk   +4 more
doaj   +1 more source

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1

, 2016
Background Pyridoxine-dependent epilepsy (PDE) is caused by mutations in ALDH7A1 (PDE- ALDH7A1), which encodes α-aminoadipic semialdehyde dehydrogenase in the lysine catabolic pathway, resulting in accumulation of α-aminoadipic-acid-semialdehyde. Patient
Struys, Eduard, Mutch, Carly, Carter, Melissa, Mercimek-Mahmutoglu, Saadet, Saadet Mercimek-Mahmutoglu, Muhammad Mahajnah, Austin, Valerie, Herd, Sarah, Mahajnah, Muhammad, Dawn Corderio, Valerie Austin, Sarah Herd, Carly Mutch, Melissa Carter, Corderio, Dawn, Eduard Struys   +15 more
core   +1 more source

Overexpression of recombinant human antiquitin in E-coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

, 2014
Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the a-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four POE-
Tiebout, Sylvia, van Karnebeek, Clara, Stockler, Sylvia, Coulter-Mackie, Marion B.   +3 more
core   +1 more source

Aldehyde dehydrogenase 7 family member A1 (ALDH7A1) [PDF]

Science-Business eXchange, 2010
openaire   +1 more source

Astrocyte redox imbalance underlies prelimbic neuronal hypoactivity and maladaptive affective behaviors in epilepsy. [PDF]

Sci Adv
Faust TE, Saito A, Ishikawa S, Yang K, Xin W, Namkung H, Agarwal A, Ramos A, Lee BJ, Hayes L, Srivastava R, Adelakun S, Saha S, Palen T, Cash-Padgett T, Wood DJ, Carloni E, Yusa R, Jaaro-Peled H, Fahey JW, Bergles DE, Ishizuka K, Sawa A.   +22 more
europepmc   +1 more source

Bis-(di-4-phenyl-benzylaminethiocarbonyl)disulfide sensitizes ABCC2/ALDH3A1 overexpressing NSCLC cells to cisplatin. [PDF]

Cancer Biol Ther
Kryczka J, Kryczka JM, Janczewski Ł, Shimida S, Frączyk A, Kolesińska B, Boncela J, Brzeziańska-Lasota E.   +7 more
europepmc   +1 more source