Results 41 to 50 of about 12,472 (207)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Insecticidal properties of essential oils against Tribolium castaneum (Herbst) and their inhibitory effects on acetylcholinesterase and adenosine triphosphatases

, 2015
Essential oils from 20 Egyptian plants were obtained by using hydrodistillation. The chemical composition of the isolated oils was identified by gas chromatograph/mass spectrometer.
Samir A.M. Abdelgaleil (739525), Magdy I.E. Mohamed (739523), Hamdy K. Abou-Taleb (739522), Mohamed S. Shawir (739524)   +3 more
core   +1 more source

ADENOSINE TRIPHOSPHATASE LOCALIZATION IN AMPHIBIAN EPIDERMIS [PDF]

The Journal of Cell Biology, 1966
The localization of ATPase1 activity has been studied by light and electron microscopy in the epidermis of Rana pipiens, Rana catesbiana, and Bufo marinus. The reaction was carried out on skin (glutaraldehyde-fixed or fresh) sectioned with or without freezing. Best results were obtained with nonfrozen sections of fixed tissue.
M G, Farquhar, G E, Palade
openaire   +2 more sources

Women with epilepsy: Evidence‐based counseling across the lifespan

Epilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn, Georgia Ramantani, Dominique Flügel, Verena Gaus, Susanne Schubert‐Bast, Elisabeth Sellitto, Jennifer Bausch, Bettina Schmitz   +7 more
wiley   +1 more source

Membrane transporter genes predict chemoradiotherapy response in patients with cervical cancer [PDF]

Einstein (São Paulo)
Introduction: Cervical cancer is the fourth most common cancer in women worldwide. Resistance to chemoradiotherapy in cervical cancer has been widely associated with membrane transport-related genes, particularly those encoding efflux transport proteins,
Natália Gregório Custódio, Fábio Ribeiro Queiroz, Angelo Borges de Melo Neto, Brenda Martins Cavalcante, Laurence Rodrigues do Amaral, Telma Maria Rossi de Figueiredo Franco, Matheus de Souza Gomes, Vasco Ariston de Carvalho Azevedo, Letícia da Conceição Braga, Paulo Guilherme de Oliveira Salles, Wander de Jesus Jeremias   +10 more
doaj   +1 more source

Tissue oxygenation dynamics during transition from seizure to spreading depolarization in rat brain

Epilepsia, EarlyView.
Abstract Objective Spreading depolarization (SD) is a phenomenon underlying various neurological conditions, including epilepsy. Researchers have suspected that local tissue oxygenation breakdown induces spontaneous SD. In this study, we investigated the relationship between spontaneous epileptic seizures and SD, with a focus on the role of local ...
Jiayang Liu, Bruce J. Gluckman
wiley   +1 more source

H+-ATPsintetase de cloroplastos (CF0F1): interação enzima/substrato ; efeito de espécies reativas de oxigênio e de nitrogênio em lipossomas [PDF]

, 2001
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.
Morfim, Marcos Paulo
core  

Studies on the effect of aqueous extracts of <i>Garcinia kola</i> seeds on human erythrocytes adenosine triphosphatases of HbAA, HbAS and HbSS genotypes

, 2004
The activities of the membrane-bound ATPases (Na+, K+ -ATPase: E. C. 3.6.1.37; Ca2+-ATPase: E. C. 3.6.1.38, and Mg2+-ATPase: E. C. 3.6.1.3) were determined in erythrocytes obtained from HbAA, HbAS and HbSS genotypes.
I Elekwa, MO Monanu, EO Anosike, Elekwa, I, Monanu, MO, Anosike, EO   +5 more
core   +1 more source

Influence of Histamine on Adenosine Triphosphatase

Experimental Biology and Medicine, 1948
In all snake venoms hitherto investigated a powerful ATP-ase (ophio-ATP-ase) has been found, which is activated by magnesium, calcium and cobalt ions and inhibited by zinc ions.1,2 Histamine and pyridoxamine act as inhibitors, epinephrine as activator.The question arose as to whether similar reactions take place in the animal tissues and thus ...
openaire   +2 more sources