Department of Biomedicine: Nye registreringer
Viser treff 161-180 av 710
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The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1
(Journal article; Peer reviewed, 2021)Increasing evidence suggests that neurodevelopmental alterations might contribute to increase the susceptibility to develop neurodegenerative diseases. We investigate the occurrence of developmental abnormalities in ... -
Phosphatidylserine receptors enhance SARS-CoV-2 infection
(Journal article; Peer reviewed, 2021)Phosphatidylserine (PS) receptors enhance infection of many enveloped viruses through virion-associated PS binding that is termed apoptotic mimicry. Here we show that this broadly shared uptake mechanism is utilized by ... -
Oncolytic H-1 parvovirus binds to sialic acid on laminins for cell attachment and entry
(Journal article; Peer reviewed, 2021)H-1 parvovirus (H-1PV) is a promising anticancer therapy. However, in-depth understanding of its life cycle, including the host cell factors needed for infectivity and oncolysis, is lacking. This understanding may guide ... -
Welcome to the Family: Identification of the NAD+ Transporter of Animal Mitochondria as Member of the Solute Carrier Family SLC25
(Journal article; Peer reviewed, 2021)Subcellular compartmentation is a fundamental property of eukaryotic cells. Communication and metabolic and regulatory interconnectivity between organelles require that solutes can be transported across their surrounding ... -
Familial co-aggregation of attention-deficit/ hyperactivity disorder and autoimmune diseases: a cohort study based on Swedish population-wide registers
(Journal article; Peer reviewed, 2021)Background Attention-deficit/hyperactivity disorder (ADHD) has been associated with several autoimmune diseases (AD), both within individuals and across relatives, implying common underlying genetic or environmental factors ... -
Metastatic tumor of the interventricular septum mimicking myocardial calcification: The role of multimodality imaging
(Journal article; Peer reviewed, 2021)Recently, there has been focus on how a round-shaped metastatic or dystrophic myocardial calcification, a rare type of myocardial pathology with different imaging appearances, can mimic a tumor in the basal interventricular ... -
ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications
(Journal article; Peer reviewed, 2021)Neurometabolic diseases (NMDs) are typically caused by genetic abnormalities affecting enzyme functions, which in turn interfere with normal development and activity of the nervous system. Although the individual disorders ... -
Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia—A Focus on Tyrosine Hydroxylase Deficiency
(Journal article; Peer reviewed, 2021)Dopa-responsive dystonia (DRD) is a rare movement disorder associated with defective dopamine synthesis. This impairment may be due to the fact of a deficiency in GTP cyclohydrolase I (GTPCHI, GCH1 gene), sepiapterin ... -
Hydroxylation of the Acetyltransferase NAA10 Trp38 Is Not an Enzyme-Switch in Human Cells
(Journal article; Peer reviewed, 2021)NAA10 is a major N-terminal acetyltransferase (NAT) that catalyzes the cotranslational N-terminal (Nt-) acetylation of 40% of the human proteome. Several reports of lysine acetyltransferase (KAT) activity by NAA10 exist, ... -
Cabozantinib is effective in melanoma brain metastasis cell lines and affects key signaling pathways
(Journal article; Peer reviewed, 2021-11-14)Melanomas have a high potential to metastasize to the brain. Recent advances in targeted therapies and immunotherapies have changed the therapeutical landscape of extracranial melanomas. However, few patients with melanoma ... -
Genetic association study of childhood aggression across raters, instruments, and age
(Journal article; Peer reviewed, 2021)Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from ... -
Human NAA30 can rescue yeast mak3∆ mutant growth phenotypes
(Journal article; Peer reviewed, 2021)N-terminal acetylation is an irreversible protein modification that primarily occurs co-translationally, and is catalyzed by a highly conserved family of N-terminal acetyltransferases (NATs). The NatC complex (NAA30–NAA35–NAA38) ... -
Comparing Tumor Cell Invasion and Myeloid Cell Composition in Compatible Primary and Relapsing Glioblastoma
(Journal article; Peer reviewed, 2021)Glioblastoma (GBM) recurrence after treatment is almost inevitable but addressing this issue with adequate preclinical models has remained challenging. Here, we introduce a GBM mouse model allowing non-invasive and scalable ... -
Relevance of Electrostatics for the Interaction of Tyrosine Hydroxylase with Porous Silicon Nanoparticles
(Journal article; Peer reviewed, 2021)Tyrosine hydroxylase (TH) is the enzyme catalyzing the rate-limiting step in the synthesis of dopamine in the brain. Developing enzyme replacement therapies using TH could therefore be beneficial to patient groups with ... -
Riboswitches as Drug Targets for Antibiotics
(Journal article; Peer reviewed, 2021)Riboswitches reside in the untranslated region of RNA and regulate genes involved in the biosynthesis of essential metabolites through binding of small molecules. Since their discovery at the beginning of this century, ... -
Assembly and Cellular Exit of Coronaviruses: Hijacking an Unconventional Secretory Pathway from the Pre-Golgi Intermediate Compartment via the Golgi Ribbon to the Extracellular Space
(Journal article; Peer reviewed, 2021)Coronaviruses (CoVs) assemble by budding into the lumen of the intermediate compartment (IC) at the endoplasmic reticulum (ER)-Golgi interface. However, why CoVs have chosen the IC as their intracellular site of assembly ... -
Characterizing the heterogeneous course of inattention and hyperactivity‑impulsivity from childhood to young adulthood
(Journal article; Peer reviewed, 2021)To advance understanding of the heterogeneity in the course of ADHD, joint symptom trajectories of inattention and hyperactivity-impulsivity from childhood to young adulthood were modelled and associated with genetic, ... -
Morphological properties of the axon initial segment-like process of AII amacrine cells in the rat retina
(Journal article; Peer reviewed, 2021)Signal processing within the retina is generally mediated by graded potentials, whereas output is conveyed by action potentials transmitted along optic nerve axons. Among retinal neurons, amacrine cells seem to be an ... -
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators
(Journal article; Peer reviewed, 2021)Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) gene, which encodes the third enzyme in the haem ... -
Evidence for similar structural brain anomalies in youth and adult attention-deficit/hyperactivity disorder: a machine learning analysis
(Journal article; Peer reviewed, 2021)Attention-deficit/hyperactivity disorder (ADHD) affects 5% of children world-wide. Of these, two-thirds continue to have impairing symptoms of ADHD into adulthood. Although a large literature implicates structural brain ...