Results 111 to 120 of about 2,219 (171)

Pyridoxine-dependent and other pyridoxine-responsive epilepsies-insights into phenotype overlapping and the long-term outcome in a cohort of 21 children. [PDF]

Front Neurol
Kravljanac R, Vučetić Tadić B, Oparnica V.   +2 more
europepmc   +1 more source

Integrative expression profiling and comparative bioinformatics analysis of ALDH7A1 in chickpea (Cicer arietinum L.) under salt and ABA treatments. [PDF]

BMC Plant Biol
Demirel S, İncetekin M, Say A, Özaktan H, Gürcan K, Demirel F.   +5 more
europepmc   +1 more source

A rare case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation

Asian Journal of Surgery
Feifei Luo, Ying Ruan, Ying Xiong, Haiyang Zhang   +3 more
openaire   +2 more sources

Early-onset pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: the first genetically confirmed case from Palestine. [PDF]

Ann Med Surg (Lond)
Pujee BK, Mujahed R, Thabaineh RW, Ghayyada S, Tbaisha D, Atwan MY, Shawabka AM.   +6 more
europepmc   +1 more source

Uncovering metabolic reprogramming in ovarian and cervical cancers with multi-omics. [PDF]

iScience
Ge Y, Luo Y, Hao B, Zhou Y, Wu R, Liu H, Tang L, Li Y, Li Y, Gong S, Liu H.   +10 more
europepmc   +1 more source

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   +1 more source

Tellimagrandin II Stimulates Inflammasomes by Causing an Accumulation of 3-Aminopropanal, Which Promotes Apoptosis of Endometriotic Cells While Inhibiting Invasion. [PDF]

J Inflamm Res
Fan W, Zhang Y, Zhao R.
europepmc   +1 more source

Evidence of Mutational Heterogeneity of the ALDH7A1 Gene in Tunisian Families: Molecular and Insilico Investigations [PDF]

Journal of Materials Science and Engineering B, 2016
null Abdelaziz Tlili, null Marwa kharrat, null Emna Mkaouar-Rebai, null Nadia Hamida-Hentati, null Sawssan Ben Romdhan, null Nourhene Fendri-Kriaa, null Faiza Fakhfakh   +6 more
openaire   +1 more source

Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy. [PDF]

Mol Ther Nucleic Acids
Salih MA.
europepmc   +1 more source

AGPAT3 Regulates Immune Microenvironment in Osteosarcoma via Lysophosphatidic Acid Metabolism. [PDF]

Oncol Res
Su S, Zeng Y, Chen J, Dong X.
europepmc   +1 more source