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

Autor: Amanda B Abildgaard, Amelie Stein, Sofie V Nielsen, Katrine Schultz-Knudsen, Elena Papaleo, Amruta Shrikhande, Eva R Hoffmann, Inge Bernstein, Anne-Marie Gerdes, Masanobu Takahashi, Chikashi Ishioka, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen

Publikováno v: eLife, Vol 8 (2019)

Defective mismatch repair leads to increased mutation rates, and germline loss-of-function variants in the repair component MLH1 cause the hereditary cancer predisposition disorder known as Lynch syndrome. Early diagnosis is important, but complicate

Externí odkaz: https://doaj.org/article/43692d501787457ab9d4d3b5d0673a78

HSP70-binding motifs function as protein quality control degrons

Autor: Amanda B, Abildgaard, Vasileios, Voutsinos, Søren D, Petersen, Fia B, Larsen, Caroline, Kampmeyer, Kristoffer E, Johansson, Amelie, Stein, Tommer, Ravid, Claes, Andréasson, Michael K, Jensen, Kresten, Lindorff-Larsen, Rasmus, Hartmann-Petersen

Publikováno v: Cellular and molecular life sciences : CMLS. 80(1)

Protein quality control (PQC) degrons are short protein segments that target misfolded proteins for proteasomal degradation, and thus protect cells against the accumulation of potentially toxic non-native proteins. Studies have shown that PQC degrons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d15dd9d38f1d4f900f2c3dd24d42e42c
https://pubmed.ncbi.nlm.nih.gov/36609589

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

Autor: Amelie Stein, Elena Papaleo, Eva Hoffmann, Chikashi Ishioka, Rasmus Hartmann-Petersen, Amanda B Abildgaard, Inge Bernstein, Masanobu Takahashi, Kresten Lindorff-Larsen, Sofie V. Nielsen, Anne-Marie Gerdes, Amruta Shrikhande, Katrine Schultz-Knudsen

Publikováno v: eLife, Vol 8 (2019)
Abildgaard, A B, Stein, A, Nielsen, S V, Schultz-Knudsen, K, Papaleo, E, Shrikhande, A, Hoffmann, E R, Bernstein, I, Gerdes, A-M, Takahashi, M, Ishioka, C, Lindorff-Larsen, K & Hartmann-Petersen, R 2019, ' Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome ', eLife, vol. 8, e49138 . https://doi.org/10.7554/eLife.49138
eLife

Defective mismatch repair leads to increased mutation rates, and germline loss-of-function variants in the repair component MLH1 cause the hereditary cancer predisposition disorder known as Lynch syndrome. Early diagnosis is important, but complicate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c589a10817d8bed341f2b865f067d1d7
https://elifesciences.org/articles/49138

Protein stability and degradation in health and disease

Autor: Lene, Clausen, Amanda B, Abildgaard, Sarah K, Gersing, Amelie, Stein, Kresten, Lindorff-Larsen, Rasmus, Hartmann-Petersen

Publikováno v: Advances in protein chemistry and structural biology. 114

The cellular proteome performs highly varied functions to sustain life. Since most of these functions require proteins to fold properly, they can be impaired by mutations that affect protein structure, leading to diseases such as Alzheimer's disease,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5607982991f714b7555e9e6227b75304
https://pubmed.ncbi.nlm.nih.gov/30635086

The exocyst subunit Sec3 is regulated by a protein quality control pathway

Autor: Isabelle Jourdain, Rasmus Hartmann-Petersen, Amanda B Abildgaard, Anne-Marie B. Lauridsen, Caroline Kampmeyer, Signe M. Schenstrøm, Antonina Karakostova

Exocytosis involves fusion of secretory vesicles with the plasma membrane, thereby delivering membrane proteins to the cell surface and releasing material into the extracellular space. The tethering of the secretory vesicles before membrane fusion is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fa118ba213c9bf728a45eb5d9ec949b
https://europepmc.org/articles/PMC5602385/