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

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

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 complicated by many variants being of unknown significance....

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2019-11-01
Series:eLife
Subjects:
protein misfolding
protein quality control
proteasome
chaperone
Online Access:https://elifesciences.org/articles/49138

Internet

https://elifesciences.org/articles/49138

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