Results 191 to 200 of about 65,383 (280)

Splicing the narrative: alternative TARDBP splicing and its relation to neurodegeneration in ALS and FTD. [PDF]

J Clin Invest
Miller MR, Dykstra M, Barmada S.
europepmc   +1 more source

Targeting the noncatalytic activity of GSK3β modulates neuronal excitability in medium spiny neurons via Nav1.6 interactions

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Kinases phosphorylate ion channels, but their noncatalytic roles via protein–protein interactions (PPI) are less understood. Here, we identified the peptidomimetic ZL141 to characterize the PPI between GSK3β and Nav1.6, revealing a noncatalytic role for GSK3β in regulating Nav1.6 currents and neuronal excitability ...
Aditya K. Singh, Zahra Haghighijoo, Akanksha Gurtu, Nolan M. Dvorak, Timothy J. Baumgartner, Nana A. Goode, Jully Singh, Matteo Bernabucci, Adam T. Szafran, Michael J. Bolt, Michael A. Mancini, Natalie M. Dvorak, Marijn Lijffijt, Zhiqing Liu, Yu Xue, Alyssa K. Thomas, Alejandro Villasante‐Tezanos, Balaji Krishnan, Jia Zhou, Fernanda Laezza   +19 more
wiley   +1 more source

Integrative and accurate annotations enhance current nonsense-mediated mRNA decay rules. [PDF]

Nucleic Acids Res
Iha H, Kikutake C, Suyama M.
europepmc   +1 more source

Relationship Between PTBP1 and Pancreatic Cancer Based on microRNA and Behavior During TYMS‐Mediated Carcinogenesis

Cancer Science, EarlyView.
Corresponding Author and colleagues identify a pancreas‐enriched microRNA, miR‐216b‐5p, that suppresses PTBP1 and its downstream effector TYMS. Their findings reveal a novel miR‐216b‐5p/PTBP1/TYMS regulatory axis driving pancreatic cancer progression and establish PTBP1 as a central molecular regulator of tumor biology beyond its metabolic role ...
Shigenori Suzuki, Hiroaki Hase, Yosuke Inomata, Jun Arima, Kentaro Jingushi, Atsushi Tomioka, Nao Kawaguchi, Hiroki Hamamoto, Ryo Tanaka, Yoshiro Imai, Mitsuhiro Asakuma, Tomohito Tanaka, Kazutake Tsujikawa, Kohei Taniguchi, Sang‐Woong Lee   +14 more
wiley   +1 more source

Developing, Implementing, and Evaluating a Care Management Model for Patients With Neuromuscular Diseases: Protocol for a Participatory Mixed Methods Study.

JMIR Res Protoc
Waldboth V, Schuler C, Willmann R, Petry H, Weber M, Grädel Messerli B, Hediger H, Kramer I, Stettler-Nemecek G, Knoblauch M, Stettner GM.   +10 more
europepmc   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Start Right to End Right: Authentic Open Reading Frame Selection Matters for Nonsense-Mediated Decay Target Identification. [PDF]

Genes (Basel)
Bagherian M, Harris G, Sathishkumar P, Lloyd JPB.   +3 more
europepmc   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Does Respiratory Rate Increase Before Respiratory Exacerbations in Pediatric Neuromuscular Patients Requiring Ventilation? [PDF]

Pediatr Pulmonol
Ghirardo S, Basilicata S, Madini B, Amaddeo A.   +3 more
europepmc   +1 more source