Results 111 to 120 of about 3,183 (188)

How to Reproduce in the Siberian Winter: Proteome Dynamics Reveals the Timing of Reproduction‐Related Processes in an Amphipod Species Endemic to Lake Baikal

Ecology and Evolution, Volume 15, Issue 7, July 2025.
The vast Lake Baikal in Siberia is located in a region with a continental climate, implying pronounced seasonal temperature differences. Remarkably, reproducing during the extremely cold winters when the lake is covered by a thick ice layer is a common trait in Baikal's endemic littoral amphipods.
Polina Lipaeva, Polina Drozdova, Kseniya Vereshchagina, Lena Jakob, Kristin Schubert, Daria Bedulina, Till Luckenbach   +6 more
wiley   +1 more source

Restricting lysine normalizes toxic catabolites associated with ALDH7A1 deficiency in cells and mice

Cell Reports
Lysine metabolism converges at α-aminoadipic semialdehyde dehydrogenase (ALDH7A1). Rare loss-of-function mutations in ALDH7A1 cause a toxic accumulation of lysine catabolites, including piperideine-6-carboxylate (P6C), that are thought to cause fatal seizures in children unless strictly managed with dietary lysine reduction.
Amritpal S. Johal, Hilal H. Al-Shekaili, Muna Abedrabbo, Abisola Z. Kehinde, Morgan Towriss, Jessica C. Koe, Keeley G. Hewton, Sarah B. Thomson, Annie V. Ciernia, Blair Leavitt, Seth J. Parker   +10 more
openaire   +2 more sources

Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines

JIMD Reports
Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management.
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg   +7 more
doaj   +1 more source

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

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders. [PDF]

, 2019
BACKGROUND:Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor ...
Amini, Hajar, Chow, Julie, Girirajan, Santhosh, Hormozdiari, Farhad, Hormozdiari, Fereydoun, Jensen, Matthew, Penn, Osnat, Shifman, Sagiv   +7 more
core  

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

, 2022
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   +1 more source

Potential impact of primate‐specific SVA retrotransposons during the evolution of human cognitive function. [PDF]

, 2017
The SVA family of hominid-specific non-LTR retrotransposon comprises the youngest group of transposable elements in the human genome. The propagation of the most ancient SVA subfamily took place about 13.5 million years ago, and the youngest SVA ...
Bubb, VJ, Cetiner, S, Quinn, JP, Savage, A, Schumann, GG, Vasieva, O   +5 more
core   +1 more source

Fetal Corpus Callosum Anomalies

Journal of Ultrasound in Medicine, Volume 44, Issue 4, Page 637-652, April 2025.
Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an important part in defining prognosis. Associations with aneuploidy and submicroscopic chromosomal deletions or duplications have been well demonstrated using chromosomal microarray ...
Valeria Lanzarone, Elisenda Eixarch, Antoni Borrell   +2 more
wiley   +1 more source

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome [PDF]

, 2017
Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills etal. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen
Bala, Pronab, Baumgartner, Matthias R., Calvert, Sophie, Camuzeaux, Stephane S.M., Chong, W. Kling, Clayton, Peter T., Das, Krishna B., Del Giudice, Ennio, Feillet, François, Fisher, Laura, Footitt, Emma J., Gissen, Paul, Livingston, John H., Maier, Oliver, McWilliam, Robert, Mills, Kevin A., Mills, Philippa B., Morel, Chantal F., Pitt, Matthew, Plecko, Barbara, Raimondi, Francesco, Riney, Kate, Stödberg, Tommy, Varadkar, Sophia M., Wolf, Nicole I., Zuberi, Sameer   +25 more
core  

The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis [PDF]

, 2011
High aldehyde dehydrogenase (ALDH) activity can be used to identify tumor-initiating and metastasis-initiating cells in various human carcinomas, including prostate cancer.
A Bellahcene, A Wetterwald, AK Croker, AM Cheung, AP Morel, AT Collins, AT Collins, C Fillmore, C Ginestier, C Hoogen van den, C Yu, Christel van den Hoogen, CL Eaton, CR Cooper, D Kong, D Ucar, DJ Pearce, E Charafe-Jauffret, EH Huang, F Li, G Chakraborty, G Pluijm van der, G Pluijm van der, Gabri van der Pluijm, Geertje van der Horst, GV Glinsky, H Li, H Rangaswami, H Tanaka, Henry Cheung, Jeroen T. Buijs, JS Moreb, JS Moreb, JT Buijs, JT Buijs, JT Buijs, K Kelly, L Patrawala, M Frydenberg, M Noda, M Santisteban, M Zeisberg, MF Clarke, MH Yang, MJ Pfeiffer, N Guzman-Ramirez, NE Sladek, P Marcato, PY Wai, R Birnie, R Kalluri, Rob C. M. Pelger, S Kasper, SA Mani, SA Marchitti, T Brabletz, T Li, TG Hullinger, V Vasiliou, W Jelski, Y Su, YR Na   +61 more
core   +2 more sources