Publications by authors named "Irena Muffels"

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Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.
Afitz Da Silva, Samuel Boris Tene Tadoum, Irena J J Muffels, Rohit Budhraja, Luisa Sturiale

bioRxiv· August 2025

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PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model.
Silvia Radenkovic, Graeme Preston, Rohit Budhraja, Irena Muffels, Anna Ligezka

bioRxiv· July 2025

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Deciphering the Glycoproteomic Landscape of Mood Disorders: Unveiling Molecular Association Between CDG and Depression Resilience.
Tamas Kozicz, Rohit Budhraja, Graeme Preston, Neha Joshi, Irena Muffels

Res Sq· July 2025

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LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics.
Irena J J Muffels, Theodore Carter, Holger Rehmann, Sebastiaan J Vastert, Annemarie A Verrijn Stuart

iScience· June 2025

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Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editors.
Indi P Joore, Sawsan Shehata, Irena Muffels, Jose Castro-Alpízar, Elena Jiménez-Curiel

PLoS Biol· June 2025

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Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects.
Eva M M Hoytema van Konijnenburg, Joline Rohof, Gautam Kok, Peter M van Hasselt, Clara D van Karnebeek, Irena J J Muffels

J Inherit Metab Dis· March 2025

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TTC7A missense variants in intestinal disease can be classified by molecular and cellular phenotypes.
Zahra Shojaei Jeshvaghani, Marjolein Mijnders, Irena Muffels, Sander van Beekhuizen, Daniel Kotlarz

Hum Mol Genet· February 2025

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Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.
Irena Josephina Johanna Muffels, Hans R Waterham, Giuseppina D'Alessandro, Guido Zagnoli-Vieira, Michael Sacher

Genome Med· February 2025

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Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients.
Irena J J Muffels, Richard Rodenburg, Hanneke L D Willemen, Désirée van Haaften-Visser, Hans Waterham

iScience· January 2025

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Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.
Rohit Budhraja, Silvia Radenkovic, Anu Jain, Irena J J Muffels, Moulay Hicham Alaoui Ismaili

Mol Genet Metab· June 2024

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[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Nadra Nasser Samra, Ilham Morani, Hino Bayan, Doua Bakry, Munia Shaalan, Irena J Muffels

Harefuah· June 2023

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Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Irena J J Muffels, Imre F Schene, Holger Rehmann, Maarten P G Massink, Maria M van der Wal

Am J Hum Genet· January 2023

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NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
Irena J J Muffels, Elsa Wiame, Sabine A Fuchs, Maarten P G Massink, Holger Rehmann

Brain Commun· October 2021

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Ilaria Parenti, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Irena Muffels

Hum Genet· July 2021

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