Hans Waterham

PROF.DR.

Affiliatie UvA Amsterdam Gastroenterology Endocrinology Metabolism Full Professor, Genetic Metabolic Diseases

Specialization

Functional genetics, Clinical Laboratory Geneticist

Focus of research

Functional genetics and molecular biology of metabolic disorders in general but with focus on inborn errors of isoprenoid/cholesterol biosynthesis and peroxisome biogenesis.

Key publications
Latest publications

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Ratbi, I., Falkenberg, K. D., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., Urquhart, J. E., Chandler, K. E., Williams, S. G., Roberts, N. A., El Alloussi, M., Black, G. C., Ferdinandusse, S., Ramdi, H., Heimler, A., Fryer, A., Lynch, S.-A., Cooper, N., Ong, K. R. & Smith, C. E. L. & 11 others, Inglehearn, C. F., Mighell, A. J., Elcock, C., Poulter, J. A., Tischkowitz, M., Davies, S. J., Sefiani, A., Mironov, A. A., Newman, W. G., Waterham, H. R. & van Camp, G., 2015, In: American journal of human genetics. 97, 4, p. 535-545
Research output: Contribution to journal › Article › Academic › peer-review
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder
Ebberink, M. S., Mooijer, P. A. W., Gootjes, J., Koster, J., Wanders, R. J. A. & Waterham, H. R., 2011, In: Human Mutation. 32, 1, p. 59-69
Research output: Contribution to journal › Article › Academic › peer-review
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene
Ebberink, M. S., Koster, J., Visser, G., van Spronsen, F., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A. & Waterham, H. R., 2012, In: Journal of Medical Genetics. 49, 5, p. 307-313
Research output: Contribution to journal › Article › Academic › peer-review
All publications

PEX14 acts as a molecular link between optineurin and the autophagic machinery to induce pexophagy
Li, H., Chen, S., Lismont, C., Vandewinkel, B., Hussein, M. A. F., Costa, C. F., Imberechts, D., Liu, Y., Azevedo, J. E., Vandenberghe, W., Verhelst, S., Waterham, H. R., Vanden Berghe, P., Baes, M. & Fransen, M., 3 Nov 2025, In: Journal of cell biology. 224, 11
Research output: Contribution to journal › Article › Academic › peer-review
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Buijs, M. J. N., Balfoort, B. M., Brands, M. M., ten Asbroek, A. L. M. A., Boon, C. J. F., Diederen, R. M. H., Timmer, C., Wagenmakers, M. A. E. M., Waterham, H. R., Wanders, R. J. A., Houtkooper, R. H. & van Karnebeek, C. D., Nov 2025, In: Acta Ophthalmologica. 103, 7, p. e436-e455
Research output: Contribution to journal › Review article › Academic › peer-review
Docosahexaenoic acid prevents peroxisomal and mitochondrial protein loss in a murine hepatic organoid model of severe malnutrition
Horcas-Nieto, J. M., Rios-Ocampo, W. A., Langelaar-Makkinje, M., de Boer, R., Gerding, A., Chornyi, S., Martini, I. A., Wolters, J. C., Wanders, R. J. A., Waterham, H. R., Van der Klei, I. J., Bandsma, R. H. J., Jonker, J. W. & Bakker, B. M., 1 Aug 2025, In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 1871, 6, p. 1-12 12 p., 167849.
Research output: Contribution to journal › Article › Academic › peer-review
All publications

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Hans Waterham

Specialization

Focus of research

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene

PEX14 acts as a molecular link between optineurin and the autophagic machinery to induce pexophagy

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Docosahexaenoic acid prevents peroxisomal and mitochondrial protein loss in a murine hepatic organoid model of severe malnutrition

Research Institutes

Researchers

About Amsterdam UMC Research

News

Research Roadmap

Core facilities

Research Support

Doctoral school

Hans Waterham

Specialization

Focus of research

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene

PEX14 acts as a molecular link between optineurin and the autophagic machinery to induce pexophagy

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Docosahexaenoic acid prevents peroxisomal and mitochondrial protein loss in a murine hepatic organoid model of severe malnutrition

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