Rasmus Hartmann-Petersen

Rasmus Hartmann-Petersen

Professor


  1. 2019
  2. 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 journalJournal articleResearchpeer-review

  3. Published

    Water dynamics in MCF-7 breast cancer cells: a neutron scattering descriptive study

    Martins, M. L., Dinitzen, A. B., Mamontov, E., Rudic, S., Pereira, J. E. M., Hartmann-Petersen, Rasmus, Herwig, K. W. & Nunes Bordallo, Heloisa, 18 Jun 2019, In: Scientific Reports. 9, 8 p., 8704.

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. 2020
  5. 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

  6. Published

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

    Abildgaard, A. B., Gersing, S. K., 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 journalReviewResearchpeer-review

  7. 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 journalJournal articleResearchpeer-review

  8. Published

    Mutations in a Single Signaling Pathway Allow Cell Growth in Heavy Water

    Kampmeyer, Caroline, Johansen, Jens Vilstrup, Holmberg, Christian, Karlson, M., Gersing, S. K., Nunes Bordallo, Heloisa, Kragelund, Birthe Brandt, Lerche, M. H., Jourdain, I., Winther, Jakob R. & Hartmann-Petersen, Rasmus, 2020, In: A C S Synthetic Biology. 9, 4, p. 733-748 16 p.

    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, 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 proceedingBook chapterResearchpeer-review

  11. 2021
  12. 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 journalJournal articleResearchpeer-review

  13. Published

    Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition

    Nielsen, S. V., Hartmann-Petersen, Rasmus, Stein, Amelie & Lindorff-Larsen, Kresten, 2021, In: PLOS Genetics. 17, 4, 6 p., e1009496.

    Research output: Contribution to journalJournal articleResearchpeer-review

ID: 11839