Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants.

Abstract:

:Amyotrophic lateral sclerosis is a neurodegenerative syndrome associated with 114 mutations in the gene encoding the cytosolic homodimeric enzyme Cu/Zn superoxide dismutase (SOD). In this article, we report that amyotrophic lateral sclerosis-associated SOD mutations with distinctly different disease progression can be rationalized in terms of their folding patterns. The mutations are found to perturb the protein in multiple ways; they destabilize the precursor monomers (class 1), weaken the dimer interface (class 2), or both at the same time (class 1 + 2). A shared feature of the mutational perturbations is a shift of the folding equilibrium toward poorly structured SOD monomers. We observed a link, coupled to the altered folding patterns, between protein stability, net charge, and survival time for the patients carrying the mutations.

authors

Lindberg MJ,Byström R,Boknäs N,Andersen PM,Oliveberg M

doi

10.1073/pnas.0501957102

keywords:

subject

Has Abstract

pub_date

2005-07-12 00:00:00

pages

9754-9

issue

28

eissn

0027-8424

issn

1091-6490

pii

0501957102

journal_volume

102

pub_type

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