Results 91 to 100 of about 83,988 (248)

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

Hypoxanthine-guanine phosphoribosyltransferase and inosine 5’-monophosphate dehydrogenase activities in three mammalian species: aquatic (Mirounga angustirostris), semiaquatic (Lontra longicaudis annectens) and terrestrial (Sus scrofa)

Frontiers in Physiology, 2015
Aquatic and semiaquatic mammals have the capacity of breath hold (apnea) diving. Northern elephant seals (Mirounga angustirostris) have the ability to perform deep and long duration dives; during a routine dive, adults can hold their breath for 25 min ...
Myrna eBarjau Perez-Milicua, Tania eZenteno-Savin, Daniel E. Crocker, Juan Pablo Gallo   +3 more
doaj   +1 more source

Bitopic binding mode of an M1 muscarinic acetylcholine receptor agonist associated with adverse clinical trial outcomes [PDF]

, 2018
The realisation of the therapeutic potential of targeting the M1 muscarinic acetylcholine receptor (M1 mAChR) for the treatment of cognitive decline in Alzheimer's disease has prompted the discovery of M1 mAChR ligands showing efficacy in alleviating ...
Bradley, Sophie J., Broad, Lisa M., Brooke, Simon M., Bundgaard, Christoffer, Christopoulos, Arthur, Crabtree, Michael D., Dwomoh, Louis, Felder, Christian C., Langmead, Christopher J., Mogg, Adrian J., Molloy, Colin, Sanger, Helen E., Sexton, Patrick M., Thompson, Karen J., Tobin, Andrew B.   +14 more
core   +1 more source

Dietary and biomarker‐guided strategies as supportive measures in the fragile X syndrome

Food Biomacromolecules, EarlyView.
Abstract The fragile X syndrome (FXS) is an inherited neurodevelopmental disorder that primarily affects males, often resulting in an IQ below 55, while about two‐thirds of females also experience intellectual disability. Physical features may include an elongated face, prominent ears, finger joint laxity, and enlarged testes in males.
Jailan E. El Halawani, Reem R. AlOlaby
wiley   +1 more source

Kinetic and Structural Analysis of the Mg2+ -binding Site of the Guanine Nucleotide-binding Protein p21 H-ras. [PDF]

, 1993
The coordination and binding of the Mg2+ ion in the nucleotide−binding site of p21 have been investigated using site−directed mutagenesis, kinetic methods, and phosphorous NMR.
Borasio, Gian Domenico, Goody, R. S., John, J., Rensland, H., Schlichting, I., Vetter, I., Wittinghofer, A.   +6 more
core  

Unraveling the dynamics of protein-protein interactions in the Gcn2 signal transduction pathway : a thesis presented in partial fulfillment of the requirements for the degree of Doctor of Philosophy in Microbiology and Genetics, Massey University, Albany, New Zealand [PDF]

, 2016
Content removed from Publications section due to copyright reasons: Cridge, A. G., Viswewaraiah, J., Ramesh, R., & Sattlegger, E. (2014). Semi-quantitative colony immunoassay for determining and optimizing protein expression in Saccharomyces cerevisiae
Ramesh, Rashmi
core   +1 more source

Interkingdom Interactions in the Gut: Ecological Mechanisms, Homeostasis, and Therapeutic Modulation

Gut Medicine, EarlyView.
ABSTRACT The gut microbiota constitutes a highly complex and dynamic ecosystem that profoundly influences host physiology, metabolism, and immunity. This review provides an integrative overview of the mechanisms through which gut microorganisms—particularly bacteria and fungi—interact with host cells and with each other to maintain intestinal ...
Rui‐Qi Wei, Xin‐Wei Sun, Hao‐Jie Huang, Yu‐Zhi Zhao, Shuang‐Jiang Liu, Chang Liu   +5 more
wiley   +1 more source

Evolution of the bacterial nucleosidase PpnN and its relation to the stringent response

Microbial Cell, 2019
In our recent publication (Zhang et al., 2019), we demonstrate an interesting mode of regulation of purine metabolism unique to Proteobacteria. In this microreview, we would like to reflect on the ideas put forward, with special focus on protein domain ...
René Lysdal Bærentsen, Ditlev Egeskov Brodersen, Yong Everett Zhang   +2 more
doaj   +1 more source

Nitric oxide regulates skeletal muscle fatigue, fiber type, microtubule organization, and mitochondrial ATP synthesis efficiency through cGMP-dependent mechanisms [PDF]

, 2016
Aim: Skeletal muscle nitric oxide–cyclic guanosine monophosphate (NO-cGMP) pathways are impaired in Duchenne and Becker muscular dystrophy partly because of reduced nNOSμ and soluble guanylate cyclase (GC) activity.
Balke, Jordan E, Brouckaert, Peter, Buys, Emmanuel S, Knowels, Gary, Madorma, Derik, Marcinek, David J, Moon, Younghye, Percival, Justin M, Siegel, Michael P   +8 more
core   +1 more source

Development of Dipicolylamine-Modified Cyclodextrins for the Design of Selective Guest-Responsive Receptors for ATP

Molecules, 2018
The construction of supramolecular recognition systems based on specific host–guest interactions has been studied in order to design selective chemical sensors. In this study, guest-responsive receptors for ATP have been designed with cyclodextrins (CyDs)
Tatsuru Yamada, Shoji Fujiwara, Kyohhei Fujita, Yuji Tsuchido, Takeshi Hashimoto, Takashi Hayashita   +5 more
doaj   +1 more source