Results 201 to 210 of about 493,727 (307)

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

Correlation between NFκB Signaling and Na⁺, K⁺‑ATPase Inhibition in Vincristine-Induced Emotional and Cognitive Comorbidities in Mice: Neuroprotective Potential of 4‑PSQ. [PDF]

ACS Omega
da Motta KP, Martins CC, da Rocha VME, Oliveira IC, Alves D, Bobermin LD, Quincozes-Santos A, Wilhelm EA.   +7 more
europepmc   +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

Structural and Biophysical Characterization of the Yersinia Type Three Secretion System ATPase YscN. [PDF]

Proteins
Barker SA, Ellis PK, Hammer A, Johnson SJ, Dickenson NE.   +4 more
europepmc   +1 more source

ATPase Domain [PDF]

, 2020
openaire   +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

Drosophila myosin function and muscle structure are modulated by isoform-specific amino acid residues of the relay domain. [PDF]

Biochem Biophys Res Commun
Kronert WA, Melkani GC, Melkani A, Bernstein SI.   +3 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Mycobacterium tuberculosis modulates phosphorylation of host ATP6V1E1 to promote intracellular survival. [PDF]

Nat Commun
Chen J, Tang F, Qin L, Fang W, Guan L, Wu X, Li H, Duan Y, Wang F, Peng C, Liu Z, Wang J, Huang X, Wang L, Yang H, Wang L, Sha W, Cai X, Lyu LD, Liu H, Liu F, Ge B, Zheng R.   +22 more
europepmc   +1 more source

CD8+ T‐cells, CD86+ macrophages and TNF‐α signalling pathways are correlated with fetlock osteoarthritis in racehorses

Equine Veterinary Journal, EarlyView.
Abstract Background There is emerging evidence for the role of the immune system in osteoarthritis (OA) pathophysiology; however, little is known about how immune cells and the synovial transcriptome are altered in naturally occurring equine OA. Objectives To evaluate synovial fluid (SF) and synovial membrane (SM) immune cell populations and the SM ...
E. J. Secor, E. N. Chow, M. Thomas, L. Johnson, A. Siefert, B. Wagner, J. B. Engiles, H. L. Reesink   +7 more
wiley   +1 more source