Results 51 to 60 of about 1,443,194 (218)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Skeletal progenitor LRP1 deficiency causes severe and persistent skeletal defects with Wnt pathway dysregulation

Bone Research
Low-density lipoprotein receptor-related protein 1 (LRP1) is a multifunctional endocytic receptor whose dysfunction is linked to developmental dysplasia of the hip, osteoporosis and osteoarthritis.
Mohammad Alhashmi, Abdulrahman M. E. Gremida, Santosh K. Maharana, Marco Antonaci, Amy Kerr, Shijian Fu, Sharna Lunn, David A. Turner, Noor A. Al-Maslamani, Ke Liu, Maria M. Meschis, Hazel Sutherland, Peter Wilson, Peter Clegg, Grant N. Wheeler, Robert J. van ‘t Hof, George Bou-Gharios, Kazuhiro Yamamoto   +17 more
doaj   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Interventions in preconception and pregnant women at risk of gestational diabetes; a systematic review and meta-analysis of randomised controlled trials

Diabetology & Metabolic Syndrome
Background Women at risk of gestational diabetes mellitus (GDM) need preventative interventions. Objective To evaluate targeted interventions before and during pregnancy for women identified as being at risk of developing GDM.
Ola F. Quotah, Daria Andreeva, Katarzyna G. Nowak, Kathryn V. Dalrymple, Aljawharah Almubarak, Anjali Patel, Nirali Vyas, Gözde S. Cakir, Nicola Heslehurst, Zoe Bell, Lucilla Poston, Sara L. White, Angela C. Flynn   +12 more
doaj   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

The impact of the COVID-19 pandemic on maternal healthcare costs: a time series analysis of pregnancies of multi-ethnic mothers in South London, United Kingdom

BMC Medicine
Background Due to the COVID-19 pandemic, maternity care reconfigurations disrupted in-person care, which shifted towards virtual care and self-monitoring. We assessed the impact of these changes on maternity service provision costs.
Alice McGreevy, Marina Soley-Bori, Florence Tydeman, Kathryn V. Dalrymple, Sara L. White, Asma Khalil, Lucilla Poston, Emma L. Duncan, Tisha Dasgupta, Hiten D. Mistry, Julia Fox-Rushby, Peter von Dadelszen, eLIXIR-BiSL Partnership, RESILIENT Study Group, Laura A. Magee   +14 more
doaj   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

Fruit and vegetable consumption and mental health across adolescence: evidence from a diverse urban British cohort study

International Journal of Behavioral Nutrition and Physical Activity, 2019
Background Evidence on the relationship between fruit and vegetable consumption (FV) and mental health in adolescence is sparse and inconsistent. Social determinants of FV include ethnicity, family environments and economic disadvantage.
Peiyuan Huang, Majella O’Keeffe, Christelle Elia, Alexis Karamanos, Louise M. Goff, Maria Maynard, J. Kennedy Cruickshank, Seeromanie Harding   +7 more
doaj   +1 more source