Genomes and Genes
Gene Symbol: SPTBN4
Description: spectrin, beta, non-erythrocytic 4
Alias: SPNB4, SPTBN3, beta-IV spectrin, spectrin beta chain, brain 3, spectrin beta chain, non-erythrocytic 4, spectrin, non-erythroid beta chain 3
- A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrixW T Tse
Division of Hematology Oncology, Children s Hospital, and the Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
J Biol Chem 276:23974-85. 2001..Spectrin betaIV is the first beta-spectrin associated with a subnuclear structure and may be part of a nuclear scaffold to which gene regulatory machinery binds...
- betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous systemS Berghs
Department of Internal Medicine, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
J Cell Biol 151:985-1002. 2000..Thus, we suggest that betaIVSigma1 spectrin interacts with ankyrin(G) 480/270-kD and participates in the clustering of voltage-gated Na(+) channels and cell-adhesion molecules at initial segments and nodes of Ranvier...
- Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowthYuji Ozeki
Division of Neurobiology and Department of Psychiatry, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Baltimore, MD 21205, USA
Proc Natl Acad Sci U S A 100:289-94. 2003..As schizophrenia is thought to reflect defects in cortical development that are determined by cytoskeletal protein activities, the cellular disturbances we observe with mutant DISC-1 may be relevant to psychopathologic mechanisms...
- Organization of focal adhesion plaques is disrupted by action of the HIV-1 proteaseRobert L Shoeman
Max Planck Institut für Zellbiologie, Rosenhof, 68526 Ladenburg, Germany
Cell Biol Int 26:529-39. 2002..Control experiments demonstrated that the effect and protein cleavages described are due to action of the HIV-1 PR and not to the action of endogenous host cell proteases...
- DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutationJill A Morris
Department of Neuroscience, Merck Research Laboratories, West Point, PA 19486, USA
Hum Mol Genet 12:1591-608. 2003....
- The C-terminal domain of ßIV-spectrin is crucial for KCNQ2 aggregation and excitability at nodes of RanvierJérôme J Devaux
Département Signalisation Neuronale, CRN2M, UMR 6231, CNRS, Faculte de Medecine Secteur Nord, Université de la Méditerranée Université Paul Cézanne, CS80011, Bd Pierre Dramard, 13344 Marseille Cedex 15, France
J Physiol 588:4719-30. 2010..neuromuscular junction and peripheral nerves in quivering-3J mice, which show a frame-shift base insertion in the Spnb4 gene and lack the C-terminus of βIV-spectrin...
- Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late component of nodes of Ranvier and axon initial segmentsPierre Marie Martin
Unité Mixte de Recherche S 839, INSERM, Universite Pierre et Marie Curie, Institut du Fer a Moulin, Paris 75005, France
J Neurosci 28:6111-7. 2008..We suggest that IQCJ-SCHIP-1 might participate, along with AnkG and betaIV-spectrin, in the stabilization or function of the multimolecular complexes of AISs and NRs, possibly by participating in Ca(2+)-mediated responses...
- Heterogeneity of parvalbumin-containing neurons in the mouse main olfactory bulb, with special reference to short-axon cells and betaIV-spectrin positive dendritic segmentsToshio Kosaka
Department of Anatomy and Neurobiology, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582, Japan
Neurosci Res 60:56-72. 2008..The present study revealed the diversity of parvalbumin-positive neurons in the mouse MOB and their particular structural properties hitherto unknown...
- Neurofascin assembles a specialized extracellular matrix at the axon initial segmentKristian L Hedstrom
Department of Neuroscience, University of Connecticut Health Center, Farmington, CT 06032, USA
J Cell Biol 178:875-86. 2007..Thus, NF-186 assembles and links the specialized brevican-containing AIS extracellular matrix to the intracellular cytoskeleton...
- Nodes of Ranvier and axon initial segments are ankyrin G-dependent domains that assemble by distinct mechanismsYulia Dzhashiashvili
Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA
J Cell Biol 177:857-70. 2007..Thus, initial segments assemble from the inside out driven by the intrinsic accumulation of ankyrin G, whereas PNS nodes assemble from the outside in, specified by Schwann cells, which direct the NF186-dependent recruitment of ankyrin G...
- Sodium channel cluster, betaIV-spectrin and ankyrinG positive "hot spots" on dendritic segments of parvalbumin-containing neurons and some other neurons in the mouse and rat main olfactory bulbsToshio Kosaka
Department of Anatomy and Neurobiology, Graduate School of Medical Sciences, Kyushu University, Higashi ku, Fukuoka 812 8582, Japan
Neurosci Res 62:176-86. 2008..Our study suggested that these morphologically identified dendritic "hot spots" might correspond to dendritic spike generation sites of those neurons...
- Electrical excitability of early neurons in the human cerebral cortex during the second trimester of gestationAnna R Moore
Department of Neuroscience, University of Connecticut Health Center, Farmington, CT 06030, USA
Cereb Cortex 19:1795-805. 2009..At 19 gw, a fraction of human CP and SP neurons possess beta IV spectrin-positive axon initial segments populated with voltage-gated sodium channels (PanNav)...
- Reduced excitability in the dentate gyrus network of betaIV-spectrin mutant mice in vivoRaphael Winkels
Institute of Clinical Neuroanatomy, Goethe University, Theodor Stern Kai 7, Frankfurt am Main, Germany
Hippocampus 19:677-86. 2009..Taken together, our findings demonstrate that betaIV-spectrin is required for normal granule cell firing and for physiological levels of network excitability in the mouse dentate gyrus in vivo...
- Selective alterations in postsynaptic markers of chandelier cell inputs to cortical pyramidal neurons in subjects with schizophreniaDianne A Cruz
Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15213, USA
Neuropsychopharmacology 34:2112-24. 2009....
- Postnatal development of synaptic structure proteins in pyramidal neuron axon initial segments in monkey prefrontal cortexDianne A Cruz
Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15213, USA
J Comp Neurol 514:353-67. 2009....
- A new paraneoplastic encephalomyelitis autoantibody reactive with the axon initial segmentSetareh Shams'ili
Department of Neurology, Erasmus University Medical Center, The Netherlands
Neurosci Lett 467:169-72. 2009..Screening a rat hippocampal cDNA library resulted in the isolation of ubiquitin-conjugating enzyme E2E1 (UBE2E1). However, blocking and elution experiments excluded UBE2E1 as the AIS autoantigen...
- Disruption of the axon initial segment cytoskeleton is a new mechanism for neuronal injuryDorothy P Schafer
Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06032, USA
J Neurosci 29:13242-54. 2009..We conclude that loss of AIS ion channel clusters and neuronal polarity are important contributors to neuronal dysfunction after injury, and that strategies to facilitate recovery must preserve or repair the AIS cytoskeleton...
- Activity-regulated cytoskeleton-associated protein Arc/Arg3.1 binds to spectrin and associates with nuclear promyelocytic leukemia (PML) bodiesWendy A C Bloomer
Department of Pharmacology and Cancer Biology, Duke University Medical Center, Durham, NC 27710, USA
Brain Res 1153:20-33. 2007..These results suggest that Arc functions as a spectrin-binding protein, forming a complex that may provide a role at sites of transcriptional regulation within the nucleus...
- betaIV spectrin is recruited to axon initial segments and nodes of Ranvier by ankyrinGYang Yang
Department of Neuroscience, University of Connecticut Health Center, University of Connecticut, Farmington, CT 06032, USA
J Cell Biol 176:509-19. 2007..Finally, using adenovirus for transgene delivery into myelinated neurons, we demonstrate that betaIV spectrin recruitment to nodes of Ranvier also depends on binding to ankG...
- Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering miceN J Parkinson
The Virginia Merrill Bloedel Hearing Research Center, University of Washington School of Medicine, Seattle, Washington, USA
Nat Genet 29:61-5. 2001..Here we report that quivering mice carry loss-of-function mutations in the mouse beta-spectrin 4 gene (Spnb4) that cause alterations in ion channel localization in myelinated nerves; this provides a rationale for the ..
- Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segmentsS M Jenkins
Howard Hughes Medical Institute and Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
J Cell Biol 155:739-46. 2001....
- [Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of RanvierMasayuki Komada
Program in Developmental Biology and Division of Basic Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA
J Cell Biol 156:337-48. 2002..These results indicate that betaIV-spectrin and ankyrin-G mutually stabilize the membrane protein cluster and the linked membrane cytoskeleton at AIS and NR...
- BetaIV spectrins are essential for membrane stability and the molecular organization of nodes of RanvierYang Yang
Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06030 3401, USA
J Neurosci 24:7230-40. 2004..These results show that quivering mutations disrupt betaIV spectrin retention and stability at nodes and that distinct protein domains regulate nodal structural integrity and molecular organization...
- BetaIVSigma1 spectrin stabilizes the nodes of Ranvier and axon initial segmentsSandra Lacas-Gervais
Medical School, University of Technology Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
J Cell Biol 166:983-90. 2004..These ultrastructural changes can explain the motor and auditory neuropathies present in betaIVSigma1 -/- mice and point to the betaIVSigma1 spectrin isoform as a master-stabilizing factor of AIS/NR membranes...
- Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IAJérôme J Devaux
Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104 6077, USA
J Neurosci 25:1470-80. 2005..Thus, the profound reorganization of axonal ion channels and the aberrant expression of novel ion channels likely contribute to the altered conduction in Trembler-J nerves...
- Neurofascin interactions play a critical role in clustering sodium channels, ankyrin G and beta IV spectrin at peripheral nodes of RanvierDarshan Koticha
W M Keck Center for Collaborative Neuroscience and Department of Cell Biology and Neuroscience, Rutgers University, 604 Allison Road, Piscataway, NJ 08854 8082, USA
Dev Biol 293:1-12. 2006..The results suggest a critical early role for axonal NF in clustering of Na+ channels at nodes of Ranvier via interactions with receptors on Schwann cells...
- Spectrins and ankyrinB constitute a specialized paranodal cytoskeletonYasuhiro Ogawa
Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06030, USA
J Neurosci 26:5230-9. 2006..Our results demonstrate that the paranodal junction contains specialized cytoskeletal components that may be important to stabilize axon-glia interactions and contribute to the membrane protein diffusion barrier found at paranodes...
- Expression of protein 4.1G in Schwann cells of the peripheral nervous systemNobuhiko Ohno
Department of Anatomy, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo City, Yamanashi, Japan
J Neurosci Res 84:568-77. 2006..These data support the concept that 4.1G plays an important role in the membrane expansion and specialization that occurs during formation and maintenance of myelin internodes in the peripheral nervous system...
- Specific role of the truncated betaIV-spectrin Sigma6 in sodium channel clustering at axon initial segments and nodes of ranvierYoko Uemoto
Department of Biological Sciences, Tokyo Institute of Technology, Yokohama 226 8501, Japan
J Biol Chem 282:6548-55. 2007..We conclude that the truncated betaIV-spectrin isoform Sigma6 plays a specific role in clustering voltage-gated sodium channels, whereas it is dispensable for membrane stabilization at axon initial segments and nodes of Ranvier...
- betaIV-spectrin forms a diffusion barrier against L1CAM at the axon initial segmentKazunari Nishimura
Laboratory for Neuronal Growth Mechanisms, Brain Science Institute, The Institute of Physical and Chemical Research RIKEN, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
Mol Cell Neurosci 34:422-30. 2007..Our results highlight the role of betaIV-spectrin and ankyrinG as critical components of a selective barrier against L1CAM...
- Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2P Chardin
Institut de Pharmacologie Moleculaire et Cellulaire, CNRS, Valbonne, France
Science 260:1338-43. 1993..These results suggest that the coupling of receptor tyrosine kinases to Ras signaling is mediated by a molecular complex consisting of GRB2 and hSos1...
- AUDITORY NEUROGENETICSBRUCE TEMPEL; Fiscal Year: 2007..During the previous funding period, we used positional cloning techniques to identify mutations in Atp2b2 and Spnb4 in the mouse mutant's deafwaddler and quivering, respectively (Street ea, 1998; Parkinson ea, 2001)...