Fibroblasts were isolated from a skin biopsy of a clinically diagnosed 51-year-old female attention-deficit/hyperactivity disorder (ADHD) patient carrying a duplication of SLC2A3, a gene encoding neuronal glucose transporter-3 (GLUT3). Patient fibroblasts were infected with Sendai virus, a single-stranded RNA virus, to generate transgene-free human induced pluripotent stem cells (iPSCs). SLC2A3-D2-iPSCs showed expression of pluripotency-associated markers, were able to differentiate into cells of the three germ layers in vitro and had a normal female karyotype. This in vitro cellular model can be used to study the role of risk genes in the pathogenesis of ADHD, in a patient-specific manner.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.scr.2018.02.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Glucose Transporter 1 Deficiency Impairs Glucose Metabolism and Barrier Induction in Human Induced Pluripotent Stem Cell-Derived Astrocytes.
J Cell Physiol
January 2025
Department of Pharmaceutical Sciences and Center for Blood-Brain Barrier Research, Jerry H. Hodge School of Pharmacy, Texas Tech University Health Sciences Center, Amarillo, Texas, USA.
Glucose is a major source of energy for the brain. At the blood-brain barrier (BBB), glucose uptake is facilitated by glucose transporter 1 (GLUT1). GLUT1 Deficiency Syndrome (GLUT1DS), a haploinsufficiency affecting SLC2A1, reduces glucose brain uptake.
View Article and Find Full Text PDFA Multicellular In Vitro Model of the Human Intestine with Immunocompetent Features Highlights Host-Pathogen Interactions During Early Salmonella Typhimurium Infection.
Adv Sci (Weinh)
January 2025
Department for Functional Materials in Medicine and Dentistry, University Hospital Würzburg, Würzburg, Germany.
Studying the molecular basis of intestinal infections caused by enteric pathogens at the tissue level is challenging, because most human intestinal infection models have limitations, and results obtained from animals may not reflect the human situation. Infections with Salmonella enterica serovar Typhimurium (STm) have different outcomes between organisms. 3D tissue modeling of primary human material provides alternatives to animal experimentation, but epithelial co-culture with immune cells remains difficult.
View Article and Find Full Text PDFUsefulness of mid-regional pro-adrenomedullin for stratifying risk in emergency department patients with solid tumors attended for febrile neutropenia secondary to chemotherapy.
Emergencias
December 2024
Servicio de Análisis Clínicos, Hospital Universitario Santa Lucía, Cartagena, Murcia, España.
Objective: To analyze the usefulness of mean mid-regional pro-adrenomedullin (MR-proADM) level to stratify risk in emergency department patients with solid tumors attended for febrile neutropenia after chemotherapy. To compare risk prediction with MR-proADM to that of conventional biomarkers and scores on the Multinational Association for Supportive Care in Cancer (MASCC) score.
Methods: Prospective observational cohort study enrolling patients with solid tumors who developed febrile neutropenia after chemotherapy.
Paroxysmal Complete Atrioventricular Block With Complete Left Bundle Branch Block Treated With Left Bundle Branch Area Pacing: A Case Report.
Cureus
December 2024
Clinical Engineering, Soseikai General Hospital, Kyoto, JPN.
Left bundle branch area pacing (LBBAP) can effectively enhance cardiac contraction by engaging the conduction system. LBBAP, compared with right ventricular apex pacing, can reduce QRS duration and enhance left ventricular function. Consequently, LBBAP has been proposed as a viable alternative to cardiac resynchronization therapy (CRT).
View Article and Find Full Text PDFVisual Improvement Following Stereotactic Radiosurgery for Orbital Apex Vascular Tumor.
Cureus
December 2024
Department of Ophthalmology, University General Hospital of Heraklion, Heraklion, GRC.
Orbital apex lesions represent a clinical challenge since they are difficult to remove surgically and may induce significant functional defects. The orbital apex is an area of convergence of neurovascular elements passing through the various local osseous foramina and the congestion of several critical anatomical structures in a confined space increases the risk of intraoperative complications. Radiotherapy is an alternative treatment option in such cases but may also induce radiation toxicity.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!