Blar i Department of Biomedicine på tidsskrift "FEBS Open Bio"
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Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function
(Journal article; Peer reviewed, 2022)Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1-hydroxymethylbilane (HMB). In this process, HMBS binds four consecutive substrate ... -
PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain
(Peer reviewed; Journal article, 2017-02)Mammalian phenylalanine hydroxylase (PAH) has a potential allosteric regulatory binding site for l‐phenylalanine (l‐Phe), in addition to its catalytic site. This arrangement is supported by a crystal structure of a homodimeric ... -
Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes
(Peer reviewed; Journal article, 2017-02)Various post-translational modifications (PTMs) regulate the localisation and function of the multifunctional protein Annexin A2 (AnxA2). In addition to its various tasks as a cytoskeletal- and membrane-associated protein, ... -
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 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 ...