Ontology highlight
ABSTRACT:
SUBMITTER: Wu CH
PROVIDER: S-EPMC3575525 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Nature 20120801 7412
Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a dominant inheritance mode. Despite numerous advances in recent years, nearly 50% of FALS cases have unknown genetic aetiology. Here we show that mutations within the profilin 1 (PFN1) gene can cause FALS. PFN1 is crucial for the conversion of monomeric (G)-actin to filamentous (F)-actin. Exome sequencing of two large AL ...[more]