Ontology highlight
ABSTRACT:
SUBMITTER: Burberry A
PROVIDER: S-EPMC5024536 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Burberry Aaron A Suzuki Naoki N Wang Jin-Yuan JY Moccia Rob R Mordes Daniel A DA Stewart Morag H MH Suzuki-Uematsu Satomi S Ghosh Sulagna S Singh Ajay A Merkle Florian T FT Koszka Kathryn K Li Quan-Zhen QZ Zon Leonard L Rossi Derrick J DJ Trowbridge Jennifer J JJ Notarangelo Luigi D LD Eggan Kevin K
Science translational medicine 20160701 347
C9ORF72 mutations are found in a significant fraction of patients suffering from amyotrophic lateral sclerosis and frontotemporal dementia, yet the function of the C9ORF72 gene product remains poorly understood. We show that mice harboring loss-of-function mutations in the ortholog of C9ORF72 develop splenomegaly, neutrophilia, thrombocytopenia, increased expression of inflammatory cytokines, and severe autoimmunity, ultimately leading to a high mortality rate. Transplantation of mutant mouse bo ...[more]