HR Waterham
Universiteit van Amsterdam
H-index: 88
Europe-Netherlands
Top articles of HR Waterham
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Identification of FDA‐approved drugs that increase mevalonate kinase in hyper IgD syndrome | Journal of Inherited Metabolic Disease | Frouwkje A Politiek Marjolein Turkenburg Janet Koster Rob Ofman Hans R Waterham | 2024/3 |
The solute carrier SLC25A17 sustains peroxisomal redox homeostasis in diverse mammalian cell lines | Free Radical Biology and Medicine | Cláudio F Costa Celien Lismont Serhii Chornyi Janet Koster Hongli Li | 2024/2/20 |
Molecular and cellular consequences of mevalonate kinase deficiency | Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease | Frouwkje A Politiek Marjolein Turkenburg Linda Henneman Rob Ofman Hans R Waterham | 2024/4/16 |
Studying the topology of peroxisomal acyl-CoA synthetases using self-assembling split sfGFP | Histochemistry and Cell Biology | Serhii Chornyi Janet Koster Lodewijk IJlst Hans R Waterham | 2024/1/19 |
A conserved complex lipid signature marks human muscle aging and responds to short-term exercise | Nature Aging | Georges E Janssens Marte Molenaars Katharina Herzog Lotte Grevendonk Carlijn ME Remie | 2024/4/12 |
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders | Brain | Rauan Kaiyrzhanov Aboulfazl Rad Sheng-Jia Lin Aida Bertoli-Avella Wouter W Kallemeijn | 2024/4 |
Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype | Frontiers in immunology | Frouwkje A Politiek Marjolein Turkenburg Rob Ofman Hans R Waterham | 2024/3/14 |
Functional analysis of GSTK1 in peroxisomal redox homeostasis in HEK-293 Cells | Antioxidants | Cláudio F Costa Celien Lismont Serhii Chornyi Hongli Li Mohamed AF Hussein | 2023/6/7 |
BVVL Syndrome in East-Africa: A Treatable Disorder of Riboflavin Metabolism not to be missed | Journal of the International Child Neurology Association | Abid Sadiq Jamil Suleiman Emmanuel Assey Daudi Mavura Peter Shija | 2023/9/20 |
The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis | Journal of Lipid Research | Serhii Chornyi Rob Ofman Janet Koster Hans R Waterham | 2023/5/1 |
Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein | Journal of Biological Chemistry | Jolita Ciapaite Carlo WT van Roermund Marjolein Bosma Johan Gerrits Sander M Houten | 2023/9/1 |
Applying CRISPR-Cas9 genome editing to study genes involved in peroxisome biogenesis or peroxisomal functions | Serhii Chornyi Janet Koster Hans R Waterham | 2023/3/24 | |
Human peroxisomal NAD+/NADH homeostasis is regulated by two independent NAD (H) shuttle systems | Free Radical Biology and Medicine | Serhii Chornyi Cláudio F Costa Lodewijk IJlst Marc Fransen Ronald JA Wanders | 2023/9/1 |
Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism | Journal of Inherited Metabolic Disease | Yuichi Abe Ronald JA Wanders Hans R Waterham Hanna Mandel Tzipora C Falik‐Zaccai | 2023/3 |
Peroxisomal NAD(H) Homeostasis in the Yeast Debaryomyces hansenii Depends on Two Redox Shuttles and the NAD+ Carrier, Pmp47 | Biomolecules | Selva Turkolmez Serhii Chornyi Sondos Alhajouj Lodewijk IJlst Hans R Waterham | 2023/8/24 |
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene | Genetics in Medicine | Hans R Waterham Janet Koster Merel S Ebberink Pavel Ješina Jiri Zeman | 2023/11/1 |
The physiological functions of human peroxisomes | Ronald JA Wanders Myriam Baes Daniela Ribeiro Sacha Ferdinandusse Hans R Waterham | 2023/1/1 | |
Differential roles for ACBD4 and ACBD5 in peroxisome–ER interactions and lipid metabolism | Journal of Biological Chemistry | Joseph L Costello Janet Koster Beatriz SC Silva Harley L Worthy Tina A Schrader | 2023/8/1 |
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases | Journal of Allergy and Clinical Immunology | Jakob Berner Cheryl van de Wetering Raul Jimenez Heredia Christina Rashkova Sacha Ferdinandusse | 2023/10/1 |
Generation of an in vitro stem cell based model for researching gyrate atrophy of the choroid and retina | Investigative Ophthalmology & Visual Science | Mark Buijs Berith Balfoort Anneloor LMA Ten Asbroek Camiel JF Boon Marion Brands | 2022/6/1 |
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