Results 81 to 90 of about 612,233 (251)

First‐in‐human, phase I, randomized, safety, pharmacokinetic, food‐effect and pharmacodynamic study of a tyrosine kinase 2/Janus kinase 1 inhibitor, SDC‐1801

British Journal of Clinical Pharmacology, EarlyView.
Aim The purpose of this study is to evaluate safety, tolerability, pharmacokinetics (PK), food‐effect (FE) and pharmacodynamics (PD) of an oral tyrosine kinase‐2 (TYK2)/Janus kinase‐1 (JAK1) inhibitor, SDC‐1801, in healthy adult participants. Methods This first‐in‐human study randomized 95 male and female participants.
Chris Brearley, Sam Francis, John Reader, Judi Proctor   +3 more
wiley   +1 more source

A novel mouse model of creatine transporter deficiency [v2; ref status: indexed, http://f1000r.es/4zb]

F1000Research, 2015
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement  and behavioral ...
Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Francesca Zonfrillo, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso   +10 more
doaj   +1 more source

An ETH‐LAD trip with unfavourable consequences: A case report

British Journal of Clinical Pharmacology, EarlyView.
Numerous analogues of the psychedelic and internationally controlled hallucinogen LSD have been described; however, only a limited number have been systematically investigated. This report presents the first case with an analytically confirmed ingestion of ETH‐LAD (6‐ethyl‐6‐nor‐lysergic acid diethylamide), the N‐ethyl derivative of LSD.
Johannes Nadler, Michaela Sommer, Annette Zschiesche, Anne Stürzebecher, Christina Grumann, Volker Auwärter, Maren Hermanns‐Clausen   +6 more
wiley   +1 more source

Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells

Scientific Reports, 2023
Cellular homeostasis of creatine (CT), integral part of the energy buffering and transducing system connecting intracellular sites of ATP production and utilization, comprises of mechanisms that increase CT, i.e., biosynthesis and cellular uptake, and CT-
Michael B. Tropak, Ilona Tkachyova, Ray Gu, Alex Lee, Andreas Schulze   +4 more
doaj   +1 more source

Pt‐TiO2 mesoporous nanosystem co‐delivering phlorezin enables synergistic sonodynamic‐chemoimmunotherapy for hepatocellular carcinoma via directly targeting DDX5 and metabolic reprogramming modulation

BMEMat, EarlyView.
Abstract Hepatocellular carcinoma (HCC), ranking as the third leading cause of cancer‐related mortality globally, continues to pose significant therapeutic challenges. Here, we developed an innovative nanosystem, Phl@PT, based on Pt‐TiO2 nanoparticles for the co‐delivery of Phlorezin, presenting a novel approach for HCC treatment through sonodynamic ...
Kairui Liu, Bo Zhang, Yue Wan, Zhiru Yang, Abdusami Abdurahman, Mengxin He, Shengtao Hu, Yi Zhang, Xiaoke Li, Jin Chang, Jun Kang, Liren Liu, Wanghua Liu, Shao Li   +13 more
wiley   +1 more source

Evaluation of SLC6A8 species conservation and the effect of pathogenic variants on creatine transport

HGG Advances
Summary: Creatine phosphate is a high-energy molecule essential for the normal functioning of highly metabolically active organs and tissues. SLC6A8 encodes the only known creatine transporter in humans (CRT1); pathogenic variants result in a ...
Taryn Diep, Gerald S. Lipshutz
doaj   +1 more source

Mitochondria‐endoplasmic reticulum organelle glue as maturation promoter for origination/dimensional dual‐cross cardiomyocytes

BMEMat, EarlyView.
Mitochondria‐endoplasmic reticulum contact sites (MERCS) are areas where the mitochondria and endoplasmic reticulum closely interact. In this study, we utilize synthetic organelle glues to artificially engineer MERCS for regulating cardiomyocyte development, through which the immature and chemo‐plasticity issues of undifferentiated cells are addressed.
Wei Tang, Hao Sun, Chenqi Duan, Jiajia Chang, Yuxing Wang, Ming Zhao, Huiyue Zhao, Shan Lu, Yang Yang, Da Huo   +9 more
wiley   +1 more source

Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial Ca2+ homeostasis, and severe muscle atrophy

Cell Death and Disease
Creatine (Cr) is essential for cellular energy homeostasis, particularly in muscle and brain tissues. Creatine Transporter Deficiency (CTD), an X-linked disorder caused by mutations in the SLC6A8 gene, disrupts Cr transport, leading to intellectual ...
Irene Pertici, Donato D’Angelo, Denis Vecellio Reane, Massimo Reconditi, Ilaria Morotti, Elena Putignano, Debora Napoli, Giorgia Rastelli, Gaia Gherardi, Agnese De Mario, Rosario Rizzuto, Simona Boncompagni, Laura Baroncelli, Marco Linari, Marco Caremani, Anna Raffaello   +15 more
doaj   +1 more source

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

BMC Genomics, 2023
Background Approximately 4–8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies.
Erica L. Lyons, Daniel Watson, Mohammad S. Alodadi, Sharie J. Haugabook, Gregory J. Tawa, Fady Hannah-Shmouni, Forbes D. Porter, Jack R. Collins, Elizabeth A. Ottinger, Uma S. Mudunuri   +9 more
doaj   +1 more source

Channel‐trap coupled charge modulation in sulfur‐vacancy‐rich nanotransducer for enhanced dual‐mode cancer catalytic therapy

BMEMat, EarlyView.
Sulfur vacancy‐rich ZnS–NCx heterojunctions are engineered as dual‐function nanotransducers, in which channel‐trap‐coupled electronic pathways enable efficient capture and transport of ultrasound‐induced piezoelectrons. This vacancy‐mediated regulation simultaneously enhances sonodynamic activity and biomimetic POD/GSHOx catalysis, triggering a self ...
Songjing Zhong, Zeyu Zhang, Wenting Chen, Quanhong Hu, Hongyi Sun, Ruidong Yin, Qinyu Zhao, Hongbo Fan, Yuanbo Cui, Yuxuan Zhang, Linlin Li   +10 more
wiley   +1 more source