Work

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemicautoinflammatory diseases

Year: 2024

Type: conference-paper

Abstract: Introduction: In the isoprenoid biosynthesis pathway, mevalonate is phosphorylated in 2 subsequent enzyme steps by MVK and PMVK to generate mevalonate pyrophosphate that is further metabolized to produce sterol and nonsterol isoprenoids. Biallelic pathogenic variants in MVK result in the autoinflammatory [for full text, please go to the a.m. URL]

Source: German Medical Science (German Research Foundation)

DOI: 10.3205/24dgrh109

Authors: Brunner, Juergen, Berner, Jakob, van de Wetering, Cheryl, Heredia, Raul Jimenez, Rashkova, Christina, Ferdinandusse, Sacha, Koster, Janet, Weiss, Johannes, Frohne, Alexandra, Giuliani, Sarah, Waterham, Hans R., Castanon, Irinka, Boztug, Kaan

Institutions: Danube Private University, Innsbruck Medical University, St. Anna Children's Cancer Research Institute, Amsterdam UMC Location University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, St Anna Children's Hospital, Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Medical University of Vienna

Language: English

Topic: Inflammasome and immune disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W6964801940

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