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Keywords: Protein misfolding
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Journal Articles
In collection:
Rare Disease Translational Research
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050546.
Published: 24 April 2024
... indicate that the G447R and A772P mutations cause CAMRQ4 through protein misfolding. The E459Q mutation is unlikely to be causative, whereas the R1147W may display a milder disease phenotype. Using various programs that predict protein stability, we show that there is a good correlation between...
Includes: Supplementary data
Journal Articles
Erik Hermansson, Sebastian Schultz, Damian Crowther, Sara Linse, Bengt Winblad, Gunilla Westermark, Jan Johansson, Jenny Presto
Journal:
Disease Models & Mechanisms
Dis Model Mech (2014) 7 (6): 659–665.
Published: 1 June 2014
... Attribution License ( http://creativecommons.org/licenses/by/3.0 ), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed. Amyloid Alzheimer’s disease Protein misfolding Chaperone Protein misfolding is the underlying...
Includes: Supplementary data