Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Warren van Loggerenberg; Shahin Sowlati-Hashjin; Jochen Weile; Rayna Hamilton; Aditya Chawla; Dayag Sheykhkarimli; Marinella Gebbia; Nishka Kishore; Laure Fresard; Sami Mustajoki; Elena Pischik; Elena Di Pierro; Michela Barbaro; Ylva Floderus; Caroline Schmitt; Laurent Gouya; Alexandre Colavin; Robert Nussbaum; Edith C. H. Friesema; Raili Kauppinen; Jordi To-Figueras; Aasne K. Aarsand; Robert J. Desnick; Michael Garton; Frederick P. Roth

doi:10.1016/j.ajhg.2023.08.012

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

Warren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli, Marinella Gebbia, Nishka Kishore, Laure Fresard, Sami Mustajoki, Elena Pischik, Elena Di Pierro, Michela Barbaro, Ylva Floderus, Caroline Schmitt, Laurent Gouya, Alexandre Colavin, Robert Nussbaum, Edith C. H. Friesema, Raili KauppinenJordi To-Figueras, Aasne K. Aarsand, Robert J. Desnick, Michael Garton, Frederick P. Roth

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	American Journal of Human Genetics
Volume	110
Issue number	10
Pages (from-to)	1769-1786
Number of pages	19
ISSN	0002-9297
DOIs	https://doi.org/10.1016/j.ajhg.2023.08.012
Publication status	Published - 5 Oct 2023
MoE publication type	A1 Journal article-refereed

Fields of Science

1184 Genetics, developmental biology, physiology

Access to Document

10.1016/j.ajhg.2023.08.012

1-s2.0-S0002929723002884-mainFinal published version, 3.63 MBLicence: CC BY

Cite this

van Loggerenberg, W., Sowlati-Hashjin, S., Weile, J., Hamilton, R., Chawla, A., Sheykhkarimli, D., Gebbia, M., Kishore, N., Fresard, L., Mustajoki, S., Pischik, E., Di Pierro, E., Barbaro, M., Floderus, Y., Schmitt, C., Gouya, L., Colavin, A., Nussbaum, R., Friesema, E. C. H., ... Roth, F. P. (2023). Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation. American Journal of Human Genetics, 110(10), 1769-1786. https://doi.org/10.1016/j.ajhg.2023.08.012

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title = "Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation",

keywords = "Human porphobilinogen deaminase, Particle mesh ewald, Molecular-dynamics, Expression, Mutations, Sequence, Synthase, Identification, Purification, Integration, 1184 Genetics, developmental biology, physiology",

author = "{van Loggerenberg}, Warren and Shahin Sowlati-Hashjin and Jochen Weile and Rayna Hamilton and Aditya Chawla and Dayag Sheykhkarimli and Marinella Gebbia and Nishka Kishore and Laure Fresard and Sami Mustajoki and Elena Pischik and {Di Pierro}, Elena and Michela Barbaro and Ylva Floderus and Caroline Schmitt and Laurent Gouya and Alexandre Colavin and Robert Nussbaum and Friesema, {Edith C. H.} and Raili Kauppinen and Jordi To-Figueras and Aarsand, {Aasne K.} and Desnick, {Robert J.} and Michael Garton and Roth, {Frederick P.}",

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van Loggerenberg, W, Sowlati-Hashjin, S, Weile, J, Hamilton, R, Chawla, A, Sheykhkarimli, D, Gebbia, M, Kishore, N, Fresard, L, Mustajoki, S, Pischik, E, Di Pierro, E, Barbaro, M, Floderus, Y, Schmitt, C, Gouya, L, Colavin, A, Nussbaum, R, Friesema, ECH, Kauppinen, R, To-Figueras, J, Aarsand, AK, Desnick, RJ, Garton, M & Roth, FP 2023, 'Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation', American Journal of Human Genetics, vol. 110, no. 10, pp. 1769-1786. https://doi.org/10.1016/j.ajhg.2023.08.012

TY - JOUR

T1 - Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

AU - van Loggerenberg, Warren

AU - Sowlati-Hashjin, Shahin

AU - Weile, Jochen

AU - Hamilton, Rayna

AU - Chawla, Aditya

AU - Sheykhkarimli, Dayag

AU - Gebbia, Marinella

AU - Kishore, Nishka

AU - Fresard, Laure

AU - Mustajoki, Sami

AU - Pischik, Elena

AU - Di Pierro, Elena

AU - Barbaro, Michela

AU - Floderus, Ylva

AU - Schmitt, Caroline

AU - Gouya, Laurent

AU - Colavin, Alexandre

AU - Nussbaum, Robert

AU - Friesema, Edith C. H.

AU - Kauppinen, Raili

AU - To-Figueras, Jordi

AU - Aarsand, Aasne K.

AU - Desnick, Robert J.

AU - Garton, Michael

AU - Roth, Frederick P.

PY - 2023/10/5

Y1 - 2023/10/5

KW - Human porphobilinogen deaminase

KW - Particle mesh ewald

KW - Molecular-dynamics

KW - Expression

KW - Mutations

KW - Sequence

KW - Synthase

KW - Identification

KW - Purification

KW - Integration

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1016/j.ajhg.2023.08.012

DO - 10.1016/j.ajhg.2023.08.012

M3 - Article

C2 - 37729906

SN - 0002-9297

VL - 110

SP - 1769

EP - 1786

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 10

ER -