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@ARTICLE{Pauly:909761,
author = {Pauly, Thomas and Bolakhrif, Najoua and Kaiser, Jesko and
Nagel-Steger, Luitgard and Gremer, Lothar and Gohlke, Holger
and Willbold, Dieter},
title = {{M}et/{V}al129 polymorphism of the full-length human prion
protein dictates distinct pathways of amyloid formation},
journal = {The journal of biological chemistry},
volume = {298},
number = {10},
issn = {0021-9258},
address = {Bethesda, MD.},
publisher = {American Soc. for Biochemistry and Molecular Biology},
reportid = {FZJ-2022-03391},
pages = {102430},
year = {2022},
abstract = {Methionine/valine polymorphism at position 129 of the human
prion protein, huPrP, is tightly associated with the
pathogenic phenotype, disease progress, and age of onset of
neurodegenerative diseases such as Creutzfeldt–Jakob
disease or Fatal Familial Insomnia. This raises the question
of whether and how the amino acid type at position 129
influences the structural properties of huPrP, affecting its
folding, stability, and amyloid formation behavior. Here,
our detailed biophysical characterization of the 129M and
129V variants of recombinant full-length huPrP(23–230) by
amyloid formation kinetics, CD spectroscopy, molecular
dynamics simulations, and sedimentation velocity analysis
reveals differences in their aggregation propensity and
oligomer content, leading to deviating pathways for the
conversion into amyloid at acidic pH. We determined that the
129M variant exhibits less secondary structure content
before amyloid formation and higher resistance to thermal
denaturation compared to the 129V variant, whereas the
amyloid conformation of both variants shows similar thermal
stability. Additionally, our molecular dynamics simulations
and rigidity analyses at the atomistic level identify
intramolecular interactions responsible for the enhanced
monomer stability of the 129M variant, involving more
frequent minimum distances between E196 and R156, forming a
salt bridge. Removal of the N-terminal half of the 129M
full-length variant diminishes its differences compared to
the 129V full-length variant and highlights the relevance of
the flexible N terminus in huPrP. Taken together, our
findings provide insight into structural properties of huPrP
and the effects of the amino acid identity at position 129
on amyloid formation behavior.},
cin = {IBG-4 / IBI-7 / JSC / NIC},
ddc = {610},
cid = {I:(DE-Juel1)IBG-4-20200403 / I:(DE-Juel1)IBI-7-20200312 /
I:(DE-Juel1)JSC-20090406 / I:(DE-Juel1)NIC-20090406},
pnm = {5111 - Domain-Specific Simulation $\&$ Data Life Cycle Labs
(SDLs) and Research Groups (POF4-511) / 2171 - Biological
and environmental resources for sustainable use (POF4-217) /
Forschergruppe Gohlke $(hkf7_20200501)$ / 5244 - Information
Processing in Neuronal Networks (POF4-524)},
pid = {G:(DE-HGF)POF4-5111 / G:(DE-HGF)POF4-2171 /
$G:(DE-Juel1)hkf7_20200501$ / G:(DE-HGF)POF4-5244},
typ = {PUB:(DE-HGF)16},
pubmed = {36037966},
UT = {WOS:001088183800010},
doi = {10.1016/j.jbc.2022.102430},
url = {https://juser.fz-juelich.de/record/909761},
}