Results 61 to 70 of about 2,219 (171)

Expression pattern of aldh7a1 in zebrafish.

, 2014
Whole-mount in situ hybridization of aldh7a1 at (A) 24 hpf and (B) 48 hpf. L, lens; OF, optic fissure; PF, pectoral fin. Scale bar: 65 µm in A; 60 µm in B.
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

mtDNA amount is not significantly reduced in aldh7a1 knock-out zebrafish.

, 2021
qPCR graph of mtDNA amount from wildtype (Wildtype, black circles) and aldh7a1 homozygous knock-out (aldh7a1 knock-out, grey squares) zebrafish embryos, demonstrating only a slight reduction in mtDNA copy number in knock-out relative to the wildtype ...
Anastasia Minenkova (11408438), Rob Barto (11408447), Saadet Mercimek-Andrews (4526929), Thomas Hurd (11408450), Erwin E. W. Jansen (11408441), Jessie Cameron (11408444), Gajja S. Salomons (4526917), Lauren MacNeil (397730)   +7 more
core   +1 more source

Explorative studies to understand if aldehyde dehydrogenase (ALDH) expression in colon cancer can be exploited as a target for therapeutic intervention. Expression profiling of ALDH7A1 in colorectal cancer [PDF]

, 2022
Colorectal cancer (CRC) has been one of the leading causes of cancer related deaths worldwide. CRC patients with recurrent or metastatic disease remain difficult to treat with current treatment options.
Magaji, Abdullahi D.
core   +3 more sources

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Pyridoxine-dependent early onset seizures associated with rare gene mutations: a case series

Journal of the Pakistan Medical Association
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive disorder. Several genes involved in Pyridoxine (B6) metabolism have been implicated in the pathogenesis of PDE, two such genes are Aldehyde Dehydrogenase 7 Family Member A1 (ALDH7A1) and ...
Ali Hyder Nazeer, Durray Shahwar Abid Khan, Prem Chand   +2 more
doaj   +1 more source

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy

Molecular and Cellular Probes, 2017
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain.
Emanuele G, Coci, Luca, Codutti, Christian, Fink, Sophie, Bartsch, Gunnar, Grüning, Thomas, Lücke, Ingo, Kurth, Joachim, Riedel   +7 more
openaire   +2 more sources

Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures

Scientific Reports, 2022
Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is a rare developmental and epileptic encephalopathy (DEEs) with unknown etiology, and poor prognosis.
Haiyan Yang, Xiaofan Yang, Fang Cai, Siyi Gan, Sai Yang, Liwen Wu   +5 more
doaj   +1 more source

Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review

Children, 2023
Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and ...
Mario Mastrangelo, Valentina Gasparri, Katerina Bernardi, Silvia Foglietta, Georgia Ramantani, Francesco Pisani   +5 more
doaj   +1 more source