Results 331 to 340 of about 1,412,344 (374)

Neuronal oscillatory imbalances in GNAO1‐related disorders associated with disease severity

Epilepsia, EarlyView.
Abstract Objective This study investigates excitatory/inhibitory (E/I) imbalances in GNAO1‐related disorders (GNAO1‐RD), linking neuronal dysfunction to clinical severity using E/I‐sensitive electroencephalography (EEG) analyses. Methods We conducted an observational study involving 12 children with GNAO1‐RD caused by pathogenic variants and 36 age ...
Tongyu Wang, Jana Domínguez‐Carral, William Grant Ludlam, Mar Junyent Segarra, Montserrat Fornaguera Marti, Hilgo Bruining, Kirill A. Martemyanov, Klaus Linkenkaer‐Hansen, Juan Dario Ortigoza‐Escobar   +8 more
wiley   +1 more source

Medial septum parvalbumin‐expressing inhibitory neurons are impaired in a mouse model of Dravet syndrome

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a severe neurodevelopmental disorder caused by pathogenic variants in the SCN1A gene, which encodes the voltage‐gated sodium channel Nav1.1 α subunit. Experiments in animal models of DS—including the haploinsufficient Scn1a+/− mouse—have identified impaired excitability of interneurons in the hippocampus and ...
Limei Zhu, Yiannos Demetriou, Joseph Barden, Juan Disla, Meiling Zhao, Joanna Mattis   +5 more
wiley   +1 more source

The disease‐linked R336C mutation in cystathionine β‐synthase disrupts communication with the PLP cofactor, yet maintains the enzyme's overall structural integrity

The FEBS Journal, EarlyView.
Cystathionine β‐synthase (CBS) is an essential enzyme involved in cysteine metabolism. The mutation R336C, associated with severe homocystinuria and of high incidence in Qatar, reduces its activity. Our research shows that this mutation does not destabilize the enzyme fold but subtly alters the tautomeric equilibrium of the PLP cofactor within the ...
Carolina Conter, Reyes Núñez‐Franco, Duaa Walid Al‐Sadeq, Carmen Fernández‐Rodríguez, Naroa Goikoetxea‐Usandizaga, Gheyath K. Nasrallah, Michail Nomikos, Maria Luz Martinez‐Chantar, Alessandra Astegno, Gonzalo Jiménez‐Osés, Luis Alfonso Martínez‐Cruz   +10 more
wiley   +1 more source

Evaluating the outcomes of pluripotent stem‐cell‐derived photoreceptor transplantation in retinal repair

The FEBS Journal, EarlyView.
Transplantation of stem cell‐derived photoreceptors in retinal repair. We summarize methods for differentiating stem cells and describe surgical techniques for transplanting photoreceptor precursors to restore visual function (A). The effectiveness of these techniques is assessed with behavioral (B) and in vitro assays (C) using mouse models that mimic
Darin Zerti, Birthe Dorgau, Evelyne Sernagor, Lyle Armstrong, Majlinda Lako, Gerrit Hilgen   +5 more
wiley   +1 more source

Neocortical neurogenesis: a proneural gene perspective

The FEBS Journal, EarlyView.
The neocortex is a mammalian‐specific brain region responsible for higher‐order cognitive functioning that shares fundamental similarities across species, but which is larger and more complex in humans. Proneural genes, encoding basic helix–loop–helix transcription factors (TFs), are evolutionarily conserved drivers of neurogenesis from fly to human ...
Lakshmy Vasan, Alexandra Moffat, Pierre Mattar, Carol Schuurmans   +3 more
wiley   +1 more source

Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model

The FEBS Journal, EarlyView.
A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng, Kevin A. Strauss, Jian‐Ping Jin   +2 more
wiley   +1 more source

Protein kinase A: a quirky prototype

The FEBS Journal, EarlyView.
Protein kinase A (PKA) has served as a prototype for establishing kinase fundamentals, including sequence, structure and catalytic mechanism. However, PKA is quirky in some respects. Its regulatory elements are expressed separately, including type I (RI) regulatory subunits that contain unusual disulphide‐linked dimerization and docking domains ...
Matthew G. Gold
wiley   +1 more source

Unconventional structure and function of PHD domains from additional sex combs‐like proteins

The FEBS Journal, EarlyView.
A plant homeodomain (PHD) at the C terminus of additional sex combs‐like (ASXL) proteins is recurrently truncated in disease. In the current study, the ASXL PHD was shown not to bind histone modifications. Instead, a complex between the ASXL PHD and methyl CpG‐binding domain proteins 5 and 6 (MBD5/6) was investigated.
Cameron J. Reddington, Annabel R. Walsh, Torsten Kleffmann, Christoph Göbl, Peter D. Mace   +4 more
wiley   +1 more source

A genetic algorithm simheuristic for solving the stochastic project portfolio selection problem with portfolio reliability constraints

International Transactions in Operational Research, EarlyView.
Abstract In response to the increasing complexity of modern products, dynamic markets, and intensified competition, project‐based organizations are actively seeking methodologies to efficiently manage their expanding project portfolios. This paper analyzes the project portfolio selection problem in uncertain environments. Despite recent advances in the
Miguel Saiz, David Lopez‐Lopez, Laura Calvet, Angel A. Juan   +3 more
wiley   +1 more source

Single‐Step Genome‐Wide Association Study of Factors for Evaluated and Linearly Scored Traits in Swedish Warmblood Horses

Journal of Animal Breeding and Genetics, EarlyView.
ABSTRACT Swedish Warmblood horses (SWB) are bred for show jumping and/or dressage with young horse test scores as indicator traits. This study aimed to investigate possible candidate genes and regions of importance for evaluated and linearly scored young horse test traits.
Anahit Nazari‐Ghadikolaei, W. Freddy Fikse, Åsa Gelinder Viklund, Sofia Mikko, Susanne Eriksson   +4 more
wiley   +1 more source