Results 31 to 40 of about 1,820 (150)

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse. [PDF]

Brain Commun
van Karnebeek CDM, Gailus-Durner V, Engelke UF, Seisenberger C, Marschall S, Dragano NRV, da Silva-Buttkus P, Leuchtenberger S, Fuchs H, Hrabě de Angelis M, Wevers RA, Coughlin CR, Lefeber DJ.   +12 more
europepmc   +3 more sources

Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case

Эпилепсия и пароксизмальные состояния, 2019
The article presents a clinical case of severe infantile generalized idiopathic epilepsy with status-like seizures, muscular dystonia and developmental delay.
T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko   +6 more
doaj   +3 more sources

GSTP1 knockdown induces metabolic changes affecting energy production and lipid balance in pancreatic cancer cells [PDF]

Molecular & Cellular Oncology
Pancreatic ductal adenocarcinoma (PDAC) is an aggressive cancer with limited treatment options, underscoring the need for novel therapeutic targets. Metabolic reprogramming is a hallmark of PDAC, enabling tumor cells to sustain rapid proliferation and ...
Jenna N. Duttenhefner, Katie M. Reindl
doaj   +2 more sources

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency [PDF]

Genetics, 2017
AbstractPyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here modeled in aldh7a1 -/- zebrafish. Mutant larvae display spontaneous..Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures, which are uniquely alleviated ...
Izabella A. Pena, Yann Roussel, Kate Daniel, Kevin Mongeon, Devon L. Johnstone, Hellen Weinschutz Mendes, Marjolein Bosma, Vishal Saxena, Nathalie Lepage, Pranesh Chakraborty, David A. Dyment, Clara van Karnebeek, Nanda M. Verhoeven‐Duif, Tuan V. Bui, Kym M. Boycott, Marc Ekker, Alex MacKenzie   +16 more
openalex   +6 more sources

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency [PDF]

International Journal of Molecular Sciences, 2022
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and infants. Early diagnosis and treatment are crucial to prevent severe neurological sequelae or death.
Hans-Otto Böhm, Mazyar Yazdani, Elise Mørk Sandås, Anja Østeby Vassli, Erle Kristensen, Helge Rootwelt, Hanne Bendiksen Skogvold, Eylert Brodtkorb, Katja Benedikte Prestø Elgstøen   +8 more
openalex   +3 more sources

Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1. [PDF]

Chem Biol Interact
Aldehyde dehydrogenase 7A1 (ALDH7A1) catalyzes a step of lysine catabolism. Certain missense mutations in the ALDH7A1 gene cause pyridoxine dependent epilepsy (PDE), a rare autosomal neurometabolic disorder with recessive inheritance that affects almost 1:65,000 live births and is classically characterized by recurrent seizures from the neonatal period.
Korasick DA, Buckley DP, Palpacelli A, Cursio I, Cesaroni E, Cheng J, Tanner JJ.   +6 more
europepmc   +5 more sources

Structural and kinetic studies of human aldh7a1 and aldh9a1 [PDF]

, 2021
The regulation and detoxification of endogenously and exogenously derived aldehydes is paramount to cellular survival due to the highly reactive nature of aldehydes as electrophiles. Human aldehyde dehydrogenases (ALDHs) are a superfamily of oxidoreductase enzymes that have critical roles in this regulation and detoxification.
Jesse W. Wyatt
openalex   +3 more sources

The impact of ALDH7A1 variants in oral cancer development and prognosis [PDF]

Aging, 2022
The gene encoding aldehyde dehydrogenase 7 family member A1 (ALDH7A1) has been associated with the development and prognosis in multiple cancers; however, the role of ALDH7A1 polymorphisms in oral cancer remains unknown. For this purpose, the influences of ALDH7A1 rs13182402 and rs12659017 on oral cancer development and prognosis were analyzed.
Hsueh‐Ju Lu, Chun‐Yi Chuang, Mu‐Kuan Chen, Chun‐Wen Su, Wei‐En Yang, Chia‐Ming Yeh, Kuan-Ming Lai, Chih‐Hsin Tang, Chiao‐Wen Lin, Shun-Fa Yang   +9 more
openalex   +3 more sources

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1 [PDF]

Seizure, 2018
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life.
Ziyad S. Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Éliane Chouery, André Mégarbané   +5 more
openalex   +3 more sources

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

Brain, 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-Delta1-piperideine 6-carboxylate.
Philippa B. Mills, Emma Footitt, Kevin Mills, Karin Tuschl, Sarah Aylett, Sophia Varadkar, Cheryl Hemingway, Neil Marlow, Janet M. Rennie, Peter Baxter, Olivier Dulac, Rima Nabbout, William J. Craigen, Bernhard Schmitt, François Feillet, Ernst Christensen, Pascale de Lonlay, Mike Pike, M.I. Hughes, Eduard A. Struys, Cornelis Jakobs, Sameer M. Zuberi, Peter T. Clayton   +22 more
openalex   +7 more sources