Publications by authors named "Hans Waterham"

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Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Mark J N Buijs, Berith M Balfoort, Marion M Brands, Anneloor L M A Ten Asbroek, Camiel J F Boon, Hans R Waterham

Acta Ophthalmol· November 2025

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PEX14 acts as a molecular link between optineurin and the autophagic machinery to induce pexophagy.
Hongli Li, Suyuan Chen, Celien Lismont, Bram Vandewinkel, Mohamed A F Hussein, Hans R Waterham

J Cell Biol· November 2025

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Docosahexaenoic acid prevents peroxisomal and mitochondrial protein loss in a murine hepatic organoid model of severe malnutrition.
José M Horcas-Nieto, W Alfredo Rios-Ocampo, Miriam Langelaar-Makkinje, Rinse de Boer, Albert Gerding, Hans R Waterham

Biochim Biophys Acta Mol Basis Dis· August 2025

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PEX39 facilitates the peroxisomal import of PTS2-containing proteins.
Walter W Chen, Tony A Rodrigues, Daniel Wendscheck, Ana G Pedrosa, Chendong Yang, Hans R Waterham

Nat Cell Biol· August 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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A Dutch translational knowledge agenda for inherited metabolic diseases.
Hans R Waterham, Ronald J A Wanders, Ron A Wevers, Clara D van Karnebeek

J Inherit Metab Dis· January 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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Overexpression of PEX14 results in mistargeting to mitochondria, accompanied by organelle fragmentation and clustering in human embryonic kidney cells.
Renate L M Jansen, Rinse de Boer, Eline M F de Lange, Janet Koster, Rifka Vlijm, Hans R Waterham

Biochim Biophys Acta Mol Cell Res· August 2024

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Molecular and cellular consequences of mevalonate kinase deficiency.
Frouwkje A Politiek, Marjolein Turkenburg, Linda Henneman, Rob Ofman, Hans R Waterham

Biochim Biophys Acta Mol Basis Dis· June 2024

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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Hans R Waterham

Brain· April 2024

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Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.
Frouwkje A Politiek, Marjolein Turkenburg, Rob Ofman, Hans R Waterham

Front Immunol· April 2024

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Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome.
Frouwkje A Politiek, Marjolein Turkenburg, Janet Koster, Rob Ofman, Hans R Waterham

J Inherit Metab Dis· March 2024

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The solute carrier SLC25A17 sustains peroxisomal redox homeostasis in diverse mammalian cell lines.
Cláudio F Costa, Celien Lismont, Serhii Chornyi, Janet Koster, Hongli Li, Hans R Waterham

Free Radic Biol Med· February 2024

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Studying the topology of peroxisomal acyl-CoA synthetases using self-assembling split sfGFP.
Serhii Chornyi, Janet Koster, Lodewijk IJlst, Hans R Waterham

Histochem Cell Biol· February 2024

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Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Hans R Waterham, Janet Koster, Merel S Ebberink, Pavel Ješina, Jiri Zeman

Genet Med· November 2023

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Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.
Jakob Berner, Cheryl van de Wetering, Raul Jimenez Heredia, Christina Rashkova, Sacha Ferdinandusse, Hans R Waterham

J Allergy Clin Immunol· October 2023

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Human peroxisomal NAD/NADH homeostasis is regulated by two independent NAD(H) shuttle systems.
Serhii Chornyi, Cláudio F Costa, Lodewijk IJlst, Marc Fransen, Ronald J A Wanders, Hans R Waterham

Free Radic Biol Med· September 2023

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Maintenance of cellular vitamin B levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.
Jolita Ciapaite, Carlo W T van Roermund, Marjolein Bosma, Johan Gerrits, Sander M Houten, Hans R Waterham

J Biol Chem· September 2023

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Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.
Joseph L Costello, Janet Koster, Beatriz S C Silva, Harley L Worthy, Tina A Schrader, Hans R Waterham

J Biol Chem· August 2023

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Peroxisomal NAD(H) Homeostasis in the Yeast Depends on Two Redox Shuttles and the NAD Carrier, Pmp47.
Selva Turkolmez, Serhii Chornyi, Sondos Alhajouj, Lodewijk IJlst, Hans R Waterham

Biomolecules· August 2023

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Functional Analysis of GSTK1 in Peroxisomal Redox Homeostasis in HEK-293 Cells.
Cláudio F Costa, Celien Lismont, Serhii Chornyi, Hongli Li, Mohamed A F Hussein, Hans R Waterham

Antioxidants (Basel)· June 2023

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The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis.
Serhii Chornyi, Rob Ofman, Janet Koster, Hans R Waterham

J Lipid Res· May 2023

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Genetic defects in peroxisome morphogenesis (Pex11β, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolism.
Yuichi Abe, Ronald J A Wanders, Hans R Waterham, Hanna Mandel, Tzipora C Falik-Zaccai

J Inherit Metab Dis· March 2023

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Applying CRISPR-Cas9 Genome Editing to Study Genes Involved in Peroxisome Biogenesis or Peroxisomal Functions.
Serhii Chornyi, Janet Koster, Hans R Waterham

Methods Mol Biol· March 2023

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