Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay
Authors:
- 1 June 2010
- journal article
- research article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 86 (6) , 881-891
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Protein structure prediction on the Web: a case study using the Phyre serverNature Protocols, 2009
- The functional organization and assembly of the axon initial segmentCurrent Opinion in Neurobiology, 2008
- Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matterBrain and Development, 2008
- Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrinTrends in Molecular Medicine, 2008
- Axonal site of spike initiation enhances auditory coincidence detectionNature, 2006
- Independent Movement, Dimerization and Stability of Tandem Repeats of Chicken Brain α-SpectrinJournal of Molecular Biology, 2004
- βIV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of RanvierJournal of Cell Biology, 2002
- Dynactin-Dependent, Dynein-Driven Vesicle Transport in the Absence of Membrane ProteinsMolecular Cell, 2001
- Efficient selection for high-expression transfectants with a novel eukaryotic vectorGene, 1991
- Brain spectrin(240/235) and brain spectrin(240/235E): two distinct spectrin subtypes with different locations within mammalian neural cells.Journal of Cell Biology, 1986