Amelie Stein

Amelie Stein

Associate Professor

ORCID: 0000-0002-5862-1681

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  1. Published

    Protein stability and degradation in health and disease

    Bjørnkjær, Lene, Abildgaard, A. B., Gersing, S. K., Stein, Amelie, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2019, Molecular Chaperones in Human Disorders. Donev, R. (ed.). Academic Press, p. 61-83 (Advances in Protein Chemistry and Structural Biology, Vol. 114).

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  2. Published

    A comprehensive map of human glucokinase variant activity

    Gersing, S., Cagiada, Matteo, Gebbia, M., Gjesing, A. P., Coté, A. G., Seesankar, G., Li, R., Tabet, D., Weile, J., Stein, Amelie, Gloyn, A. L., Hansen, Torben, Roth, F. P., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2023, In: Genome Biology. 24, 1, 23 p., 97.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Characterizing glucokinase variant mechanisms using a multiplexed abundance assay

    Gersing, S., Schulze, Thea Klarsø, Cagiada, Matteo, Stein, Amelie, Roth, F. P., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2024, In: Genome Biology. 25, 1, 22 p., 98.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    Mapping the degradation pathway of a disease-linked aspartoacylase variant

    Gersing, S. K., Wang, Y., Grønbæk-Thygesen, Martin, Kampmeyer, Caroline, Bjørnkjær, Lene, Willemoës, Martin, Andréasson, C., Stein, Amelie, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2021, In: PLOS Genetics. 17, 4, 28 p., e1009539.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants

    Grønbæk-Thygesen, Martin, Voutsinos, Vasileios, Johansson, Kristoffer Enøe, Schulze, Thea Klarsø, Cagiada, Matteo, Pedersen, Line, Clausen, L., Nariya, S., Powell, R. L., Stein, Amelie, Fowler, D. M., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2024, In: Nature Communications. 15, 1, 18 p., 4026.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    Predicting and interpreting large-scale mutagenesis data using analyses of protein stability and conservation

    Høie, M. H., Cagiada, Matteo, Frederiksen, A. H. B., Stein, Amelie & Lindorff-Larsen, Kresten, 2022, In: Cell Reports. 38, 2, 15 p., 110207.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    Classifying disease-associated variants using measures of protein activity and stability

    Jepsen, M. M., Fowler, D. M., Hartmann-Petersen, Rasmus, Stein, Amelie & Lindorff-Larsen, Kresten, 2020, Protein Homeostasis Diseases: Mechanisms and Novel Therapies. Pey, A. L. (ed.). Elsevier, p. 91-107

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  8. Published

    Blocking protein quality control to counter hereditary cancers

    Kampmeyer, Caroline, Nielsen, S. V., Bjørnkjær, Lene, Stein, Amelie, Gerdes, Anne-Marie Axø, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, Dec 2017, In: Genes, Chromosomes & Cancer. 56, 12, p. 823-831 9 p.

    Research output: Contribution to journal › Review › Research › peer-review

  9. Published

    Disease-linked mutations cause exposure of a protein quality control degron

    Kampmeyer, Caroline, Larsen-Ledet, Sven, Wagnkilde, M. R., Michelsen, M., Iversen, Henriette Kring Mangor, Nielsen, S. V., Lindemose, Søren, Caregnato, A., Ravid, T., Stein, Amelie, Teilum, Kaare, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2022, In: Structure. 30, 9, p. 1245-1253.e5

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. Published

    Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Karstensen, H. G., Rendtorff, N. D., Hindbæk, L. S., Colombo, R., Stein, Amelie, Birkebæk, N. H., Hartmann-Petersen, Rasmus, Lindorff-Larsen, Kresten, Højland, A. T., Petersen, M. B. & Tranebjærg, Lisbeth, 2020, In: European Journal of Medical Genetics. 63, 3, 6 p., 103733.

    Research output: Contribution to journal › Journal article › Research › peer-review

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