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1.	Bonkovsky, HL, et al. (author) Explore: A Prospective, Multinational Natural History Study of Acute Hepatic Porphyria Patients with Recurrent Attacks 2018 In: HEPATOLOGY. - 0270-9139. ; 68, s. 723A-724A Conference paper (other academic/artistic)
2.	Chen, B, et al. (author) International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias 2019 In: Genetics in medicine : official journal of the American College of Medical Genetics. - : Elsevier BV. - 1530-0366. ; 21:11, s. 2605-2613 Journal article (peer-reviewed)
3.	Gouya, L, et al. (author) EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks 2020 In: Hepatology (Baltimore, Md.). - : Ovid Technologies (Wolters Kluwer Health). - 1527-3350 .- 0270-9139. ; 71:5, s. 1546-1558 Journal article (peer-reviewed)
4.	Phillips, J, et al. (author) PHASE 1/2, RANDOMIZED, PLACEBO CONTROLLED AND OPEN LABEL EXTENSION STUDIES OF GIVOSIRAN AN INVESTIGATIONAL RNA INTERFERENCE (RNAI) THERAPEUTIC, IN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA 2018 In: JOURNAL OF GENERAL INTERNAL MEDICINE. - 0884-8734. ; 33, s. S287-S288 Conference paper (other academic/artistic)
5.	Sardh, E, et al. (author) Phase 1, Randomized, Placebo Controlled Study of Givosiran, an Investigational RNA Interference (RNAi) Therapeutic, in Patients with Acute Intermittent Porphyria: Interim study results 2017 In: HEPATOLOGY. - 0270-9139. ; 66, s. 427A-427A Conference paper (other academic/artistic)
6.	van Loggerenberg, W, et al. (author) Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation 2023 In: American journal of human genetics. - 1537-6605. ; 110:10, s. 1769-1786 Journal article (peer-reviewed)
7.	van Loggerenberg, W, et al. (author) Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation 2023 In: bioRxiv : the preprint server for biology. - : Cold Spring Harbor Laboratory. Journal article (other academic/artistic)abstract Defects in hydroxymethylbilane synthase (HMBS) can cause Acute Intermittent Porphyria (AIP), an acute neurological disease. Although sequencing-based diagnosis can be definitive, ~⅓ of clinical HMBS variants are missense variants, and most clinically-reported HMBS missense variants are designated as “variants of uncertain significance” (VUS). Using saturation mutagenesis,en masseselection, and sequencing, we applied a multiplexed validated assay to both the erythroid-specific and ubiquitous isoforms of HMBS, obtaining confident functional impact scores for >84% of all possible amino-acid substitutions. The resulting variant effect maps generally agreed with biochemical expectation. However, the maps showed variants at the dimerization interface to be unexpectedly well tolerated, and suggested residue roles in active site dynamics that were supported by molecular dynamics simulations. Most importantly, these HMBS variant effect maps can help discriminate pathogenic from benign variants, proactively providing evidence even for yet-to-be-observed clinical missense variants.

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Type of publication: journal article (4); conference paper (3)

Type of content: other academic/artistic (4); peer-reviewed (3)

Author/Editor: Desnick, RJ (7)Undo refine; Harper, P (5); Bissell, DM (5); Kauppinen, R (5); Aarsand, AK (5); Simon, A (4); show more...; Sardh, E (4); Chan, A (4); Balwani, M (4); Gouya, L (4); Penz, C (4); Anderson, KE (4); Bonkovsky, HL (4); Querbes, W (4); Schmitt, C. (3); Stein, P (3); Parker, C (3); Phillips, J (3); FLODERUS, Y (3); Sandberg, S (3); To-Figueras, J (3); Cappellini, MD (3); Deybach, JC (3); Badminton, M (3); Friesema, ECH (3); Al-Tawil, N (2); Barbaro, M (2); Rees, D (2); Stolzel, U (2); Windyga, J (2); Minder, E (2); Ventura, P (2); Nussbaum, R (2); Hamilton, R (2); Rees, DC (2); Chawla, A. (2); Naik, H (2); Martasek, P (2); Weile, J (2); Phillips, JD (2); Rock, S (2); Gebbia, M (2); van Loggerenberg, W (2); Sowlati-Hashjin, S (2); Kishore, N (2); Fresard, L (2); Mustajoki, S (2); Pischik, E (2); Di Pierro, E (2); Colavin, A (2); show less...

University: Karolinska Institutet (7)

Language: English (7)Undo refine

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