Marcia A. Munoz

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 18 publications

Case Report: Clinical application of an in vitro prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel MVK variant.

Case Report: Clinical application of an in vitro prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel MVK variant.

Journal: Frontiers in pediatrics

Published: July 15, 2025

NK cell dysfunction and interferon-γ production underlie autoinflammation in mevalonate kinase deficiency.

NK cell dysfunction and interferon-γ production underlie autoinflammation in mevalonate kinase deficiency.

Journal: Immunity

Published: June 26, 2025

Acute and resolving inflammation differentially regulates beta cell function in mice via interactions between peritoneal and islet-associated macrophages.

Acute and resolving inflammation differentially regulates beta cell function in mice via interactions between peritoneal and islet-associated macrophages.

Journal: Diabetologia

Published: June 25, 2025

Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.

Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.

Journal: The Journal of clinical investigation

Published: April 12, 2022

Bisphosphonate drugs have actions in the lung and inhibit the mevalonate pathway in alveolar macrophages.

Bisphosphonate drugs have actions in the lung and inhibit the mevalonate pathway in alveolar macrophages.

Journal: eLife

Published: July 23, 2021

Molecular mechanisms of action of bisphosphonates and new insights into their effects outside the skeleton.

Molecular mechanisms of action of bisphosphonates and new insights into their effects outside the skeleton.

Journal: Bone

Published: April 16, 2020

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.

Journal: Frontiers in immunology

Published: February 27, 2019

Lack of protein prenylation promotes NLRP3 inflammasome assembly in human monocytes.

Lack of protein prenylation promotes NLRP3 inflammasome assembly in human monocytes.

Journal: The Journal of allergy and clinical immunology

Published: November 09, 2018

From vesicle to cytosol.

From vesicle to cytosol.

Journal: eLife

Published: June 21, 2018

Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency.

Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency.

Journal: The Journal of allergy and clinical immunology

Published: August 03, 2016

Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases.

Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases.

Journal: Immunology and cell biology

Published: February 11, 2016

A highly sensitive prenylation assay reveals in vivo effects of bisphosphonate drug on the Rab prenylome of macrophages outside the skeleton.

A highly sensitive prenylation assay reveals in vivo effects of bisphosphonate drug on the Rab prenylome of macrophages outside the skeleton.

Journal: Small GTPases

Published: September 25, 2015

Showing 1-12 of 18

Last Updated: 09/26/2026