Browsing Faculty of Medicine by Title
Now showing items 8015-8034 of 9009
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Structural and biochemical characterization of Malaria parasites
(Doctoral thesis, 2021-09-17)The Apicomplexa phylum includes more than 6000 species, and some of them are pathogens of humans and animals of socio-economic importance. The most representative parasites are Plasmodium spp. and Toxoplasma gondii. ... -
Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants
(Journal article; Peer reviewed, 2022)Hepatocyte nuclear factor 1A (HNF-1A) is a transcription factor expressed in several embryonic and adult tissues, modulating the expression of numerous target genes. Pathogenic variants in the HNF1A gene are known to cause ... -
Structural and thermodynamic insight into phenylalanine hydroxylase from the human pathogen Legionella pneumophila
(Peer reviewed; Journal article, 2013-08-19)Phenylalanine hydroxylase from Legionella pneumophila (lpPAH) has a major functional role in the synthesis of the pigment pyomelanin, which is a potential virulence factor. We present here the crystal structure of lpPAH, ... -
Structural aspects of nucleotide ligand binding by a bacterial 2H phosphoesterase
(Peer reviewed; Journal article, 2017-01-31)The 2H phosphoesterase family contains enzymes with two His-X-Ser/Thr motifs in the active site. 2H enzymes are found in all kingdoms of life, sharing little sequence identity despite the conserved overall fold and active ... -
Structural brain MRI and cognition in newly diagnosed Parkinson’s disease
(Doctoral thesis, 2010-11-12)Background: Parkinson’s disease (PD) is a common progressive neurodegenerative disorder mainly affecting the elderly. Previously regarded a pure motor disease, PD is now considered a multisystem brain disease with various ... -
Structural changes induced by electroconvulsive therapy are associated with clinical outcome
(Journal article; Peer reviewed, 2020)Background Electroconvulsive therapy (ECT) is the most effective treatment option for major depressive disorder, so understanding whether its clinical effect relates to structural brain changes is vital for current and ... -
Structural imaging findings are related to clinical complications in chronic pancreatitis
(Journal article; Peer reviewed, 2022)Background/objectives: Structural pancreatic changes and complications related to chronic pancreatitis are well described, but little is known about their relationship. We aimed to explore the associations between pancreatic ... -
Structural insights into Charcot–Marie–Tooth disease-linked mutations in human GDAP1
(Journal article; Peer reviewed, 2022)Charcot–Marie–Tooth disease (CMT) is the most common inherited peripheral polyneuropathy in humans, and its different subtypes are linked to mutations in dozens of different genes. Mutations in ganglioside-induced ... -
Structural mechanism for tyrosine hydroxylase inhibition by dopamine and reactivation by Ser40 phosphorylation
(Journal article; Peer reviewed, 2022)Tyrosine hydroxylase (TH) catalyzes the rate-limiting step in the biosynthesis of dopamine (DA) and other catecholamines, and its dysfunction leads to DA deficiency and parkinsonisms. Inhibition by catecholamines and ... -
Structural properties and peptide ligand binding of the capsid homology domains of human Arc
(Journal article; Peer reviewed, 2021)The activity-regulated cytoskeleton-associated protein (Arc) is important for synaptic plasticity and the normal function of the brain. Arc interacts with neuronal postsynaptic proteins, but the mechanistic details of its ... -
Structural properties of the HNF-1A transactivation domain
(Journal article; Peer reviewed, 2023)Hepatocyte nuclear factor 1α (HNF-1A) is a transcription factor with important gene regulatory roles in pancreatic β-cells. HNF1A gene variants are associated with a monogenic form of diabetes (HNF1A-MODY) or an increased ... -
Structural similarities and functional differences clarify evolutionary relationships between tRNA healing enzymes and the myelin enzyme CNPase
(Peer reviewed; Journal article, 2017-05-16)Background: Eukaryotic tRNA splicing is an essential process in the transformation of a primary tRNA transcript into a mature functional tRNA molecule. 5′-phosphate ligation involves two steps: a healing reaction catalyzed ... -
Structure and dynamics of a human myelin protein P2 portal region mutant indicate opening of the β barrel in fatty acid binding proteins
(Peer reviewed; Journal article, 2018-06-25)Background: Myelin is a multilayered proteolipid sheath wrapped around selected axons in the nervous system. Its constituent proteins play major roles in forming of the highly regular membrane structure. P2 is a myelin-specific ... -
Structure and function of an atypical homodimeric actin capping protein from the malaria parasite
(Journal article; Peer reviewed, 2022)Apicomplexan parasites, such as Plasmodium spp., rely on an unusual actomyosin motor, termed glideosome, for motility and host cell invasion. The actin filaments are maintained by a small set of essential regulators, which ... -
Structure and mechanism of a bacterial host-protein citrullinating virulence factor, Porphyromonas gingivalis peptidylarginine deiminase
(Peer reviewed; Journal article, 2015-07-01)Citrullination is a post-translational modification of higher organisms that deiminates arginines in proteins and peptides. It occurs in physiological processes but also pathologies such as multiple sclerosis, fibrosis, ... -
Structure and substrate specificity determinants of the taurine biosynthetic enzyme cysteine sulphinic acid decarboxylase
(Journal article; Peer reviewed, 2021)Pyridoxal 5́-phosphate (PLP) is an important cofactor for amino acid decarboxylases with many biological functions, including the synthesis of signalling molecules, such as serotonin, dopamine, histamine, γ-aminobutyric ... -
Structure of the ALS Mutation Target Annexin A11 Reveals a Stabilising N-Terminal Segment
(Journal article; Peer reviewed, 2020)The functions of the annexin family of proteins involve binding to Ca2+, lipid membranes, other proteins, and RNA, and the annexins share a common folded core structure at the C terminus. Annexin A11 (AnxA11) has a long ... -
Structure of the Complete Dimeric Human GDAP1 Core Domain Provides Insights into Ligand Binding and Clustering of Disease Mutations
(Journal article; Peer reviewed, 2021)Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders. Despite the common involvement of ganglioside-induced differentiation-associated protein 1 (GDAP1) in CMT, the protein structure ... -
Structure of the mouse acidic amino acid decarboxylase GADL1
(Journal article; Peer reviewed, 2018)Pyridoxal 5′-phosphate (PLP) is a ubiquitous cofactor in various enzyme classes, including PLP-dependent decarboxylases. A recently discovered member of this class is glutamic acid decarboxylase-like protein 1 (GADL1), ... -
Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains
(Journal article; Peer reviewed, 2021)Prolyl 4-hydroxylases (P4Hs) catalyze post-translational hydroxylation of peptidyl proline residues. In addition to collagen P4Hs and hypoxia-inducible factor P4Hs, a third P4H—the poorly characterized endoplasmic ...