Genetic risk factor identification for common epilepsies guided by integrative omics data analysis
Abstract Objective Genetic generalized epilepsies (GGEs) comprise the most common genetically determined epilepsy syndromes, following a complex mode of inheritance. Although many important common and rare genetic factors causing or contributing to these epilepsies have been identified in the past decades, many features of the genetic architecture are ...
Ashwini Mushunuri +9 more
wiley +1 more source
Correction: Adenine base editing of CFTR using receptor targeted nanoparticles restores function to G542X cystic fibrosis airway epithelial cells. [PDF]
Rose I +6 more
europepmc +1 more source
Protein tandem repeats that produce frameshifts can generate new structural states and functions
We explored an alternative protein structure landscape by analyzing amino acid sequences from frameshifted tandem repeats—regions prone to frameshifts. These frameshifts, especially in short repeats, lead to more drastic changes than in non‐repetitive regions, often altering structure, function, localization, and potentially contributing to disease ...
Zarifa Osmanli +8 more
wiley +1 more source
Ins and outs of IRES elements: function and significance. [PDF]
Martínez-Salas E.
europepmc +1 more source
A ribonucleoprotein octamer for targeted siRNA delivery
Wanyi Tai +3 more
semanticscholar +1 more source
Human SART3 has two RRM domains to engage with U6 snRNA for spliceosome recycling. This study reports solution structures of SART3 RRM domains and investigates the interaction between RRM and U6 snRNA. SART3 binds to the asymmetric bulge of U6 snRNA as a dimer via conserved positively charged surfaces.
Iktae Kim +8 more
wiley +1 more source
<i>CircUBAP2(9,12)</i> Inhibits Nasopharyngeal Carcinoma Invasion and Metastasis by Down-regulating <i>ZEB2</i> through Competitive Binding to AUF1. [PDF]
Fan C +10 more
europepmc +1 more source
The bacterial dynamin‐like protein DynA from Bacillus subtilis plays a key role in phage defense. It binds the plasma membrane through a unique paddle domain in its D1 subunit. This membrane association is essential for its protective function, likely preventing explosive membrane rupture following phage infection.
Samia Shafqat +2 more
wiley +1 more source
Alternative Splicing: A Critical Regulator in Human Bone Biology and Tumor Progression. [PDF]
Cao L +8 more
europepmc +1 more source
Investigating the molecular mechanisms underlying the anti‐CRISPR function of AcrIIA13b protein
Anti‐CRISPR protein AcrIIA13b inhibits CRISPR–Cas9 function by preventing target DNA engagement. The Cas9–sgRNA ribonucleoprotein (RNP) normally recognizes the protospacer adjacent motif (PAM) duplex to initiate DNA cleavage. AcrIIA13b binding to the PAM‐interacting WED–PI domain blocks this recognition, leaving the target DNA intact.
So Yeon Lee, Hyun Ho Park
wiley +1 more source

