Winterpacht, Andreas

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Zenker, M., Mayerle, J., Lerch, M. M., Tagariello, A., Zerres, K., Durie, P. R., Beier, M., Hülskamp, G., Guzman, C., Rehder, H., et al. (2005) · Nature Genetics

Ubiquitin and proteasome pathwaysGenomics and Rare Diseases

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The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation

Bosch, E., Güse, E., Kirchner, P., Winterpacht, A., Walther, M., Alders, M., Kerkhof, J., Ekici, A. B., Sticht, H., Sadikovic, B., et al. (2024) · Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation

Bosch, E., Güse, E., Kirchner, P., Winterpacht, A., Walther, M., Alders, M., Kerkhof, J., Ekici, A. B., Sticht, H., Sadikovic, B., et al. (2024) · Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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