Amelie Stein

Amelie Stein

Assistant professor


  1. 2021
  2. Published

    Disorder in a two-domain neuronal Ca2+-binding protein regulates domain stability and dynamics using ligand mimicry

    Staby, Lasse, Kemplen, K. R., Stein, Amelie, Ploug, Michael, Clarke, J., Skriver, Karen, Heidarsson, P. O. & Kragelund, Birthe Brandt, 2021, In: Cellular and molecular life sciences : CMLS. 78, p. 2263-2278 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance

    Cagiada, Matteo, Johansson, Kristoffer Enøe, Valanciute, A., Nielsen, Sofie Vincents, Hartmann-Petersen, Rasmus, Yang, J. J., Fowler, D. M., Stein, Amelie & Lindorff-Larsen, Kresten, 2021, In: Molecular Biology and Evolution. 38, 8, p. 3235-3246

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2020
  5. Published
  6. 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 proceedingBook chapterResearchpeer-review

  7. Published
  8. Published

    Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation

    Bjørnkjær, Lene, Stein, Amelie, Grønbæk-Thygesen, Martin, Nygaard, L., Søltoft, Cecilie Lützen, Nielsen, Sofie Vincents, Lisby, Michael, Ravid, T., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2020, In: PLOS Genetics. 16, 11, 28 p., e1009187.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. 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 journalJournal articleResearchpeer-review

  10. Published

    Protein destabilization and degradation as a mechanism for hereditary disease

    Nielsen, Sofie Vincents, Schenstrøm, S. M., Christensen, Caspar Elo, Stein, Amelie, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2020, Protein Homeostasis Diseases: Mechanisms and Novel Therapies. Pey, A. L. (ed.). Elsevier, p. 111-125

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

  11. 2019
  12. Published

    Biophysical and Mechanistic Models for Disease-Causing Protein Variants

    Stein, Amelie, Fowler, D. M., Hartmann-Petersen, Rasmus & Lindorff-Larsen, Kresten, 2019, In: Trends in Biochemical Sciences. 44, 7, p. 575-588

    Research output: Contribution to journalReviewResearchpeer-review

  13. Published

    Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome

    Abildgaard, Amanda Bering, Stein, Amelie, Nielsen, Sofie Vincents, Schultz-Knudsen, K., bqz445, bqz445, Shrikhande, A., Hoffmann, Eva, Bernstein, I., Gerdes, Anne-Marie Axø, Takahashi, M., Ishioka, C., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2019, In: eLife. 8, 28 p., e49138 .

    Research output: Contribution to journalJournal articleResearchpeer-review

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