WFRF:(Pischik E)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 02824naa a2200517 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:236798224 | |
| 003 | SwePub | |
| 008 | 240829s2023 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:2367982242 URI |
| 024 | 7 | a https://doi.org/10.1101/2023.02.06.5273532 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a vet2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a van Loggerenberg, W4 aut |
| 245 | 1 0 | a Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation |
| 264 | 1 | b Cold Spring Harbor Laboratory,c 2023 |
| 520 | a 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. | |
| 700 | 1 | a Sowlati-Hashjin, S4 aut |
| 700 | 1 | a Weile, J4 aut |
| 700 | 1 | a Hamilton, R4 aut |
| 700 | 1 | a Chawla, A4 aut |
| 700 | 1 | a Gebbia, M4 aut |
| 700 | 1 | a Kishore, N4 aut |
| 700 | 1 | a Frésard, L4 aut |
| 700 | 1 | a Mustajoki, S4 aut |
| 700 | 1 | a Pischik, E4 aut |
| 700 | 1 | a Di Pierro, E4 aut |
| 700 | 1 | a Barbaro, M4 aut |
| 700 | 1 | a Floderus, Yu Karolinska Institutet4 aut |
| 700 | 1 | a Schmitt, C4 aut |
| 700 | 1 | a Gouya, L4 aut |
| 700 | 1 | a Colavin, A4 aut |
| 700 | 1 | a Nussbaum, R4 aut |
| 700 | 1 | a Friesema, ECH4 aut |
| 700 | 1 | a Kauppinen, R4 aut |
| 700 | 1 | a To-Figueras, J4 aut |
| 700 | 1 | a Aarsand, AK4 aut |
| 700 | 1 | a Desnick, RJ4 aut |
| 700 | 1 | a Garton, M4 aut |
| 700 | 1 | a Roth, FP4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t bioRxiv : the preprint server for biologyd : Cold Spring Harbor Laboratory |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:236798224 |
| 856 | 4 8 | u https://doi.org/10.1101/2023.02.06.527353 |
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- Kishore, N
- Frésard, L
- Mustajoki, S
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- Di Pierro, E
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- Gouya, L
- Colavin, A
- Nussbaum, R
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- Aarsand, AK
- Desnick, RJ
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