Evolution‐guided yeast complementation reveals functional differences in human PSPH variants
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez +6 more
wiley +1 more source
Biophysical characterisation shows that NanX, a membrane transport protein from the major facilitator superfamily (MFS), forms both monomers and dimers after purification. AlphaFold modelling and substrate docking provide information on residues likely involved in substrate recognition for NanX and another MFS member, NanT.
Michael C. Newton‐Vesty +13 more
wiley +1 more source
Characterization of the Complete Mitochondrial Genome of <i>Castanopsis tibetana</i> Hance: A Precious Timber Species. [PDF]
Wang ZF +4 more
europepmc +1 more source
We describe detailed protocols for the purification and preparation of Marchantia polymorpha Auxin Response Factor 2 (MpARF2). This protein is fused to an MBP solubility tag and an mNG fluorescent tag and is purified from Escherichia coli. The presented procedures make it possible to study MpARF2 assemblies, which could arise from phase separation ...
Bas Janssen +5 more
wiley +1 more source
Identification and Functional Characterization of a Novel De Novo <i>SATB1</i> Frameshift Variant in a Patient with Epilepsy-Dominant Neurodevelopmental Disorders. [PDF]
Xu M, Zhang R, Fan S, Sun M, Zhang X.
europepmc +1 more source
Dual native G‐quadruplex folding is associated with chromatin looping at the MYC locus
BG4‐detectable G‐quadruplex (G4) in HaCaT and NHEK keratinocytes identified folded and unfolded G4s enriched at promoters/TSSs and active enhancers, whereas unfolded G4s also overlapped weak/poised enhancers. At MYC–PVT1, 3C‐qPCR detected enhancer–promoter looping only when G4s were simultaneously folded at both regulatory elements under native ...
Dieila Giomo de Lima +7 more
wiley +1 more source
Genetic Diversity, Recombination, and Pathogenicity of Porcine Epidemic Diarrhea Virus Strains Circulating in China During 2023-2024. [PDF]
Cao Y +7 more
europepmc +1 more source
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti +5 more
wiley +1 more source
Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi +19 more
wiley +1 more source
Genome-Wide Identification of <i>CYP75</i> Gene Family in <i>Rhododendron simsii</i> and Functional Analysis of Its Role in Promoting Anthocyanin Biosynthesis. [PDF]
Jiang YH +10 more
europepmc +1 more source

