Results 141 to 150 of about 143,834 (286)

Fragment Coverage: Unified Visualization and Quantitative Assessment of MS/MS Fragmentation Supports Metabolite Identification in Macromolecule Drug Metabolism Studies. [PDF]

Rapid Commun Mass Spectrom
Cifuentes P, Garriga A, Fontaine F, Zamora I.   +3 more
europepmc   +1 more source

WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse

Epilepsia, EarlyView.
Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper, Zining Liu, Aristea S. Galanopoulou, Gernot Hlauschek, Benjamin Sinclair, Wai Lam Leung, Stefanie Dedeurwaerdere, Elisabeth Doran, Solomon L. Moshé, David C. Henshall, Ozlem Akman, Pablo M. Casillas‐Espinosa   +11 more
wiley   +1 more source

AUG-Dependent Translation of Antisense Repeat Transcripts Contributes to Dipeptide Repeat Protein Production in <i>C9ORF72</i> Expansion Carriers. [PDF]

Cells
Almeida S, Gu Y, Kankel MW.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

ELAVL1 and ELAVL4 Are Required for Musashi-Dependent Translational Activation. [PDF]

Biomolecules
Bronson K, Reddick MM, Macnicol KB, Bolen C, Hardy L, Lagasse A, Odle AK, Childs GV, MacNicol MC, MacNicol AM.   +9 more
europepmc   +1 more source

Gapmer Antisense Oligonucleotides as a New Class of Genetic Substrate Reduction Agents in Mucopolysaccharidosis IIIC

Background: Lysosomal storage disorders (LSDs) include over 70 rare inherited metabolic diseases caused by defective lysosomal enzymes or associated proteins, leading to the accumulation of undegraded substrates and progressive cellular dysfunction ...
Alves, Sandra, Matos, Liliana, Gaspar, Paulo, Santos, Juliana I., Encarnação, Marisa, Gonçalves, Mariana, Almeida, Matilde B., Rocha, Hugo, Moreira, Luciana V., Coutinho, Maria F., Prata, Maria J., Duarte, Ana J.   +11 more
core  

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

Neutral Backbone Modifications Enhance the Pharmacokinetics and Biodistribution of Antibody-Oligonucleotide Conjugates with High Drug-to-Antibody Ratios. [PDF]

J Med Chem
Cochran M, Nallagatla S, Iacono GD, Abdulkadir S, Arias D, Jordan M, Kwon HW, Levin A, Hood M, Kovach P, Kim A, Burke R, Malecova B, Doppalapudi VR.   +13 more
europepmc   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Chemical Modification Strategies for Therapeutic Oligonucleotides: Mechanism Compatibility, Design Trade-Offs, and Translational Barriers. [PDF]

Molecules
Burton K, Dellinger K.
europepmc   +1 more source