Krüger, Elke

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Hsieh, T.-C., Bar-Haim, A., Moosa, S., Ehmke, N., Gripp, K. W., Pantel, J. T., Danyel, M., Mensah, M. A., Horn, D., Rosnev, S., et al. (2022) · Nature Genetics

Genomics and Rare DiseasesFace recognition and analysis

Cited by 233

Out of Control: The Role of the Ubiquitin Proteasome System in Skeletal Muscle during Inflammation

Haberecht-Müller, S., Krüger, E., & Fielitz, J. (2021) · Biomolecules

Muscle Physiology and DisordersUbiquitin and proteasome pathways

Cited by 108

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Kröll‐Hermi, A., Ebstein, F., Stoetzel, C., Geoffroy, V., Schaefer, E., Scheidecker, S., Bär, S., Takamiya, M., Kawakami, K., Zieba, B. A., et al. (2020) · EMBO Molecular Medicine

Ubiquitin and proteasome pathwaysGenetic Neurodegenerative Diseases

Cited by 65

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

Ansar, M., Ebstein, F., Özkoç, H., Paracha, S. A., Iwaszkiewicz, J., Gesemann, M., Zoete, V., Ranza, E., Santoni, F. A., Sarwar, M. T., et al. (2020) · Human Molecular Genetics

Ubiquitin and proteasome pathwaysGenomics and Rare Diseases

Cited by 44

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

Papendorf, J. J., Ebstein, F., Alehashemi, S., Piotto, D. G. P., Kozlova, A., Terreri, M. T., Shcherbina, A., Rastegar, A., Rodrigues, M., Pereira, R., et al. (2023) · Frontiers in Immunology

Inflammasome and immune disordersImmunodeficiency and Autoimmune Disorders

Cited by 38

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Ebstein, F., Küry, S., Most, V., Rosenfelt, C., Scott-Boyer, M.-P., van Woerden, G. M., Besnard, T., Papendorf, J. J., Studencka-Turski, M., Wang, T., et al. (2023) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 36

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Isidor, B., Ebstein, F., Hurst, A., Vincent, M., Bader, I., Rudy, N. L., Cogne, B., Mayr, J., Brehm, A., Bupp, C., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 24

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

Deb, W., Rosenfelt, C., Vignard, V., Papendorf, J. J., Möller, S., Wendlandt, M., Studencka-Turski, M., Cogné, B., Besnard, T., Ruffier, L., et al. (2024) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 11

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., et al. (2024) · medRxiv

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 6

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T.-C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., et al. (2025) · Nature Communications

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

Cited by 3

Reprogramming of bacterial virulence by lysine acetylation

Schmöker, O., Girbardt, B., Schulze, S., Palm, G. J., Berndt, L., Hoppen, J., Kara, N., Schöps, X., Al-Abdulla, R., Garz, K., et al. (2026) · Nature Communications

Ubiquitin and proteasome pathwaysEnzyme Structure and Function

Cited by 2