Results 41 to 50 of about 143,834 (286)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

New treatments for myasthenia: a focus on antisense oligonucleotides [PDF]

, 2013
Corrado Angelini,1 Sara Martignago,2 Michela Bisciglia21IRCCS S Camillo, Via Alberoni, Venice, Italy; 2Department of Neurosciences, University of Padova, Via Giustiniani 5, 35128, Padova, ItalyAbstract: Autoimmune myasthenia gravis (MG) is a ...
Bisciglia M, Angelini C., Angelini C, Martignago S, Martignago S., Bisciglia M.   +5 more
core   +1 more source

Fusogenic RNA Nanomodules for Fusion‐Mediated and Multiplexed siRNA Delivery

Advanced Functional Materials, EarlyView.
A fusogenic lipid‐layered RNA nanomodules (L‐CRAMs) enable high‐capacity and long‐lasting siRNA delivery through membrane fusion. These nanomodules carry exceptionally large siRNA payloads, avoid conventional endosomal uptake, and release multiple functional siRNAs through Dicer‐mediated processing.
Sunghyun Moon, Iksoo Jang, Taehyeon Kim, Nayoung Yoon, Kyuha Yum, Jong Bum Lee   +5 more
wiley   +1 more source

Transport Oligonucleotides—A Novel System for Intracellular Delivery of Antisense Therapeutics

Molecules, 2020
Biological activity of antisense oligonucleotides (asON), especially those with a neutral backbone, is often attenuated by poor cellular accumulation. In the present proof-of-concept study, we propose a novel delivery system for asONs which implies the ...
Oleg V. Markov, Anton V. Filatov, Maxim S. Kupryushkin, Ivan V. Chernikov, Olga A. Patutina, Anton A. Strunov, Elena L. Chernolovskaya, Valentin V. Vlassov, Dmitrii V. Pyshnyi, Marina A. Zenkova   +9 more
doaj   +1 more source

Investigating discovery strategies and pharmacological properties of stereodefined phosphorodithioate LNA gapmers

Molecular Therapy: Nucleic Acids, 2022
The introduction of sulfur into the phosphate linkage of chemically synthesized oligonucleotides creates the stereocenters on phosphorus atoms. Researchers have valued the nature of backbone stereochemistry and early on investigated drug properties for ...
Jörg Duschmalé, Adrian Schäublin, Erik Funder, Steffen Schmidt, Łukasz J. Kiełpiński, Helle Nymark, Klaus Jensen, Troels Koch, Martina Duschmalé, Erich Koller, Marianne Ravn Møller, Simone Schadt, Christophe Husser, Andreas Brink, Sabine Sewing, Tanja Minz, Jesper Wengel, Konrad Bleicher, Meiling Li   +18 more
doaj   +1 more source

Nano Borophene as a Programmable 2D Scaffold for Organized DNA Assembly and Long‐Range Energy Transfer

Advanced Functional Materials, EarlyView.
Borophene is introduced as a programmable 2D bio‐interface that organizes DNA through dual boron–sulfur and nucleobase interactions. This molecular architecture enables efficient long‐range nanosurface energy transfer, establishing new design principles for functional nano–bio interfaces and amplification‐free optical biosensing.
Teresa Aditya, Pranay Saha, John M. Sansalone, Shraddha Krishnakumar, Matthew Molinaro, André J. van der Vlies, Nada Maher, Adrienne Griffiths, Zakhro Zakirova, Ketan Dighe, Narayana R. Aluru, Dipanjan Pan   +11 more
wiley   +1 more source

Cytotoxic effects of Clusterin antisense oligonucleotides and Docetaxel on two prostate cancer cell lines

The Journal of Qazvin University of Medical Sciences, 2015
Background: Clusterin is a glycoprotein that is overexpressed under stress conditions and causes cell survival by inhibiting apoptosis. Clusterin is overexpressed in prostate cancer.
N. Bakhtiari, SM. Safavi, K. Hoseinipajouh   +2 more
doaj  

Superior Silencing by 2′,4′-BNANC-Based Short Antisense Oligonucleotides Compared to 2′,4′-BNA/LNA-Based Apolipoprotein B Antisense Inhibitors

Journal of Nucleic Acids, 2012
The duplex stability with target mRNA and the gene silencing potential of a novel bridged nucleic acid analogue are described. The analogue, 2′,4′-BNANC antisense oligonucleotides (AONs) ranging from 10- to 20-nt-long, targeted apolipoprotein B.
Tsuyoshi Yamamoto, Hidenori Yasuhara, Fumito Wada, Mariko Harada-Shiba, Takeshi Imanishi, Satoshi Obika   +5 more
doaj   +1 more source

Silencing Antibiotic Resistance with Antisense Oligonucleotides

Biomedicines, 2021
Antisense technologies consist of the utilization of oligonucleotides or oligonucleotide analogs to interfere with undesirable biological processes, commonly through inhibition of expression of selected genes.
Saumya Jani, Maria Soledad Ramirez, Marcelo E. Tolmasky   +2 more
doaj   +1 more source