Exome sequencing to identify de novo mutations in sporadic ALS trios
Exome sequencing to identify de novo mutations in sporadic ALS trios
About this item
Full title
Author / Creator
Chesi, Alessandra , Staahl, Brett T , Jovičić, Ana , Couthouis, Julien , Fasolino, Maria , Raphael, Alya R , Yamazaki, Tomohiro , Elias, Laura , Polak, Meraida , Kelly, Crystal , Williams, Kelly L , Fifita, Jennifer A , Maragakis, Nicholas J , Nicholson, Garth A , King, Oliver D , Reed, Robin , Crabtree, Gerald R , Blair, Ian P , Glass, Jonathan D and Gitler, Aaron D
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Exome sequencing of 47 ALS trios (patients and their unaffected parents) identified
de novo
mutations, including a mutation in the neuronal chromatin remodeling complex component, SS18L1. SS18L1 interacted with the ALS protein FUS, and mutation of
SS18L1
in primary neurons resulted in impaired neurite outgrowth.
Amyotrophic lateral s...
Alternative Titles
Full title
Exome sequencing to identify de novo mutations in sporadic ALS trios
Authors, Artists and Contributors
Author / Creator
Staahl, Brett T
Jovičić, Ana
Couthouis, Julien
Fasolino, Maria
Raphael, Alya R
Yamazaki, Tomohiro
Elias, Laura
Polak, Meraida
Kelly, Crystal
Williams, Kelly L
Fifita, Jennifer A
Maragakis, Nicholas J
Nicholson, Garth A
King, Oliver D
Reed, Robin
Crabtree, Gerald R
Blair, Ian P
Glass, Jonathan D
Gitler, Aaron D
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3709464
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3709464
Other Identifiers
ISSN
1097-6256
E-ISSN
1546-1726
DOI
10.1038/nn.3412
