Amelie Stein

Amelie Stein

Associate Professor

ORCID: 0000-0002-5862-1681

Publication year:
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21 - 30 out of 37Page size: 10
  1. 2020
  2. 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

  3. Published

    Co-Chaperones in Targeting and Delivery of Misfolded Proteins to the 26S Proteasome

    Abildgaard, A. B., Andersen, Sarah Gersing, Larsen-Ledet, Sven, Nielsen, S. V., Stein, Amelie, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2020, In: Biomolecules. 10, 8, 24 p., 1141.

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

  4. Published

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

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

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

  5. 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

  6. Published

    Protein destabilization and degradation as a mechanism for hereditary disease

    Nielsen, S. V., 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 proceeding › Book chapter › Research › peer-review

  7. 2019
  8. 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 journal › Review › Research › peer-review

  9. Published

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

    Abildgaard, A. B., Stein, Amelie, Nielsen, S. V., Schultz-Knudsen, Katrine, Papaleo, E., 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 journal › Journal article › Research › peer-review

  10. 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

  11. Published

    Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations

    Scheller, R., Stein, Amelie, Nielsen, S. V., Marin, F. I., Gerdes, Anne-Marie Axø, Di Marco, M., Papaleo, E., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2019, In: Human Mutation. 40, 4, p. 444-457

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

  12. 2018
  13. Published

    Random mutagenesis analysis of the Influenza A M2 proton channel reveals novel resistance mutants

    Santner, P., Martins, J. M. D. S., Kampmeyer, Caroline, Hartmann-Petersen, Rasmus, Laursen, J. S., Stein, Amelie, Olsen, Christian Adam, Arkin, I. T., Winther, Jakob R., Willemoës, Martin & Lindorff-Larsen, Kresten, 2018, In: Biochemistry. 57, 41, p. 5957-5968

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

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