Results 111 to 120 of about 418,363 (219)

Hybrid Macrocyclic Peptides — Synthetic Strategies to Diversify and Cyclize Peptide Libraries in Phage Display Selections

Chemistry – A European Journal, EarlyView.
Hybrid macrocyclic peptides unite genetically encoded peptide libraries with the structural complexity of synthetic small molecules. This Review critically analyzes phage‐compatible cyclization and diversification chemistries, highlights emerging opportunities beyond traditional cysteine‐based approaches, and outlines how future advances may enable the
Titia Rixt Oppewal, Clemens Mayer
wiley   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing

JIMD Reports
Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta‐oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms.
Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier   +8 more
doaj   +1 more source

Effect of small molecule eRF3 degraders on premature termination codon readthrough. [PDF]

Nucleic Acids Res, 2021
Baradaran-Heravi A, Balgi AD, Hosseini-Farahabadi S, Choi K, Has C, Roberge M.   +5 more
europepmc   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Differential sensitivity to SHH signaling and neural crest‐mediated Gas1 expression regulate jaw size during development and evolution

Developmental Dynamics, EarlyView.
Abstract Background Developmental control of jaw size is crucial to prevent birth defects and facilitate evolutionary adaptation. We have shown that jaw size is established by neural crest mesenchyme (NCM), which are progenitor cells that migrate into the mandibular primordia and produce the jaws.
Zuzana Vavrušová, Daniel B. Chu, An Nguyen, Yeniko Ta, Jennifer L. Fish, Richard A. Schneider   +5 more
wiley   +1 more source

Identification of novel pathogenic mutations in ATP6V0A4 associated with distal renal tubular acidosis and analysis of wild-type expression in glomerular disease

Renal Failure
Distal renal tubular acidosis (dRTA) is a rare renal disorder caused by genetic mutations or secondary factors. If untreated, it can result in a significant electrolyte imbalance and progressive chronic kidney disease (CKD).
Yaru Jiang, Menglu Ren, Chun Gan, Qing Yang, Huimin Jiang, Han Xiao, Xindi Zhou, Wanbing Chen, Xuejun Yang, Baohui Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li   +14 more
doaj   +1 more source

Premature Termination Codon in 5' Region of Desmoplakin and Plakoglobin Genes May Escape Nonsense-Mediated Decay through the Reinitiation of Translation. [PDF]

Int J Mol Sci, 2022
Vallverdú-Prats M, Brugada R, Alcalde M.   +2 more
europepmc   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source