Results 121 to 130 of about 3,184 (187)

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency [PDF]

, 2021
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation.
Abdenur, JE, Ashmore, C, Boemer, F, Bok, LA, Boyer, M, Buhas, D, Clayton, PT, Coughlin, CR, Das, A, Dekker, H, Evangeliou, A, Feillet, F, Footitt, EJ, Gospe, SM, Hartmann, H, Kara, M, Kristensen, E, Lee, J, Lilje, R, Longo, N, Lunsing, RJ, Mills, P, Papadopoulou, MT, Pearl, PL, Piazzon, F, Plecko, B, Saini, AG, Santra, S, Sjarif, DR, Stockler-Ipsiroglu, S, Striano, P, Tseng, LA, Van Hove, JLK, van Karnebeek, CDM, Verhoeven-Duif, NM, Wijburg, FA, Zuberi, SM   +36 more
core  

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Molecular Genetics and Metabolism Reports, 2016
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The   +6 more
doaj   +1 more source

Metabolische Epilepsien mit spezifischen Therapieoptionen: Diagnostischer Leitfaden [PDF]

, 2018
Zusammenfassung: Bei therapieresistenten Anfällen müssen, unabhängig vom jeweiligen Lebensalter, angeborene Stoffwechselerkrankungen erwogen werden.
Plecko, B.
core  

Transcriptional profiling reveals functional links between RasGrf1 and Pttg1 in pancreatic beta cells [PDF]

, 2014
Background: Our prior characterization of RasGrf1 deficient mice uncovered significant defects in pancreatic islet count and size as well as beta cell development and signaling function, raising question about the mechanisms linking RasGrf1 to the ...
Arribas, Monica, Calzada, Nuria, Fernandez Medarde, Alberto, Gomez, Carmela, Manyes Font, Lara, Santos, Eugenio   +5 more
core   +2 more sources

Pre- and post-natal stress programming : developmental exposure to glucocorticoids causes long-term brain-region specific changes to transcriptome in the precocial Japanese quail [PDF]

, 2016
Funding was provided by a Kelvin Smith PhD Scholarship from the University of Glasgow (VM, PH, JR, and KAS), and Biotechnology and Biological Sciences Research Council David Phillips Research Fellowship (K.A.S.).Exposure to stress during early ...
Herzyk, Pawel, Marasco, Valeria, Robinson, Jane, Spencer, Karen Anne   +3 more
core   +2 more sources

The Plight of the Lucluc: Examining the Deadly Mystery of Nodding Syndrome [PDF]

, 2015
Nodding syndrome (NS) is an emerging epidemic neurological disease that is shrouded in mystery. It is currently only found in the post-conflict regions of South Sudan, northern Uganda, and Tanzania.
McGann, Ethan K
core  

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

Science-Business eXchange, 2010
openaire   +1 more source

Uncovering metabolic reprogramming in ovarian and cervical cancers with multi-omics

iScience
Summary: Ovarian cancer (OC) and cervical cancer (CC) are major causes of gynecological malignancy mortality, but their spatially resolved metabolic features and shared progression-driving metabolic reprogramming remain unexplored.
Yunxiao Ge, Yanlin Luo, Bingbing Hao, Yubing Zhou, Rui Wu, Hangrui Liu, Lin Tang, Yuanying Li, Yushu Li, Shuting Gong, Hui Liu   +10 more
doaj   +1 more source

Meta-analysis of prostate cancer gene expression data identifies a novel discriminatory signature enriched for glycosylating enzymes [PDF]

, 2014

core   +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