Results 161 to 170 of about 49,031 (262)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Directed Evolution of an Efficient Polycarbonate Depolymerase With Exceptional Operational Stability

Angewandte Chemie, EarlyView.
Here, we show that well studied PET hydrolases can be re‐engineered via directed evolution to deconstruct alternative aromatic‐containing commodity polymers. Introduction of only three mutations into LCCICCG was sufficient to generate an efficient polycarbonate hydrolase with high operational stability that can fully depolymerize a polycarbonate sample
Henry A. Jones, Amy E. Hutton, Dominic Harris‐Jukes, John Davidson, Linus O. Johannissen, Colin W. Levy, Michael P. Shaver, Anthony P. Green   +7 more
wiley   +2 more sources

Genetic diversity, codon usage, and evolutionary dynamics of bovine parainfluenza virus type-3. [PDF]

J Vet Med Sci
Bi J, Li K, Ma Q, Ren Y, Yuan Z, Li J, Xie C.   +6 more
europepmc   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

Direct Selection of Functional De Novo Macrocycles for Activation of On‐Cellulo Insulin Receptor

Angewandte Chemie, EarlyView.
A live‐cell screening platform, RaPID‐ExCells, integrates mRNA display‐derived macrocyclic peptide libraries with functional selection against native cell‐surface receptors. Application to the insulin receptor enabled de novo discovery of a macrocyclic agonist that activates endogenous signaling despite weak in vitro binding, highlighting the power of ...
Yun‐Hsuan Kuo, Emiko Mihara, Junichi Takagi, Hiroaki Suga   +3 more
wiley   +2 more sources

Contrasting genome composition and codon usage in <i>Listeria monocytogenes</i> temperate versus virulent phages. [PDF]

Virus Evol
Kobakhidze S, Song A, Tang YW, Kotetishvili M.   +3 more
europepmc   +1 more source

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

Annals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source

A viral codon usage strategy enhances antigen production and protection in SFTSV mRNA vaccination. [PDF]

NPJ Vaccines
Cha I, Yamada Y, Kim D, Kang S, Yang WS, Shin WJ, Ryder A, Lewis M, Chung C, Cho NH, Choi YK, Li J, Lai CJ, Jung JU.   +13 more
europepmc   +1 more source

Unconventional codon usage bias mediates mRNA translational dynamics in macrophages. [PDF]

PLoS Biol
Luo S, Wang Q, Chen A, Huang L, Liu Y, Zong X, Mao Y.   +6 more
europepmc   +1 more source

Codon Usage Bias Analysis in the Chloroplast Genome of <i>Actinostemma tenerum</i> (Cucurbitaceae). [PDF]

Curr Issues Mol Biol
Mu JJ, Zhang JS.
europepmc   +1 more source