Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function
About this item
Full title
Author / Creator
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
Structural, biochemical and functional analyses elucidate the mechanisms by which mutations in the
TBC1D24
gene interfere with protein function, thus causing early-onset epilepsy and DOORS syndrome.
Mutations in
TBC1D24
cause severe epilepsy and DOORS syndrome, but the molecular mechanisms underlying these pathologies are unresolved....
Alternative Titles
Full title
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1846404133
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1846404133
Other Identifiers
ISSN
1545-9993
E-ISSN
1545-9985
DOI
10.1038/nsmb.3297
