Results 151 to 160 of about 258,313 (263)

OPA1 as a Cancer Target: Molecular Mechanisms, Structural Insights, and Strategies for Drug Development. [PDF]

Antioxidants (Basel)
Curcio A, Ganino L, Valentino I, Gentile M, Alcaro S, Rocca R, Artese A, Amodio N.   +7 more
europepmc   +1 more source

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

Nucleotide-dependent switching and RIPb effector recognition of the barley susceptibility factor RACB. [PDF]

Commun Biol
Mohamadi M, Bradai M, Janowski R, Günsel U, Tran M, Kahl SM, McCollum C, Niessing D, Hückelhoven R, Hagn F.   +9 more
europepmc   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

Epilepsia, EarlyView.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk, Mary Anne Meskis, Galia Wilson, Bobby Jacob, Christoph Helmstaedter, Jane von Gaudecker, Veronica Hood, Ceri Hughes, Michael Scott Perry   +8 more
wiley   +1 more source

The Rho GTPase signaling pathway modulates <i>Moraxella catarrhalis</i> invasion into human respiratory epithelial cells by regulating actin polymerization. [PDF]

Front Immunol
Ma R, Cheng G, Wu Y, Chen J, Lu R, Liu Y.   +5 more
europepmc   +1 more source

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

Epilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon, Shuyun Wang, Qinghua Liu, Chunling Chen, Alexander M. Greiner, Abigail M. Marx, Maya Shih, Jack M. Parent, Barry London, Lori L. Isom   +9 more
wiley   +1 more source

<i>De novo</i> mutation in the <i>ARHGAP32</i> gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder. [PDF]

Front Psychiatry
Cirnigliaro L, Saccuzzo L, Marzà V, Randazzo M, Perdichizzi M, Romano C, Fichera M, Rizzo R, Barone R.   +8 more
europepmc   +1 more source

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

Huntingtin as an Actin Organizer: Structural and Functional Insights

Cytoskeleton, EarlyView.
M. Capizzi, S. Humbert
wiley   +1 more source

Bioactive Magnesium Silicate Activating Myocardial Energy Metabolism For Infarcted Myocardium Repair

Exploration, EarlyView.
ABSTRACT The heart is a highly energy‐dependent organ, developing bioenergy‐activating biomaterials to activate myocardial adenosine triphosphate (ATP) production and restore dysregulated energy homeostasis is a promising solution for its functional recovery.
Zhibin Liao, Chen Qin, Erhong Song, Chengbin Ding, Zhixu Wang, Yan Sun, Chen Song, Junjie Liu, Jingge Ma, Hongjian Zhang, Leyu Wang, Chengtie Wu   +11 more
wiley   +1 more source