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AlphaII-spectrin in the axonal cytoskeleton is essential for stabilizing nascent sodium-channel clusters and assembling the mature node of Ranvier.
Fodrin is a regulatory transporter of gamma-tubulin (zeige TUBG1 ELISA Kits) to the centrosomes for normal progression of mitosis.
Mena/VASP and alphaII-Spectrin complexes regulate cytoplasmic actin networks in cardiomyocytes and protect from conduction abnormalities and dilated cardiomyopathy.
Degradation of Spna2 by calpain- and/or caspase is not central to the pathogenesis of 1,2-diacetylbenzene (DAB) axonopathy.
The present study demonstrates the age-dependent intraneuronal presence of an alphaII-spectrin cleavage fragment in mammalian forebrain which is exacerbated in a transgenic model of AD.
alphaII-spectrin deficiency is embryonic lethal, with cardiac, craniofacial and neural tube malformations.
Results of this study provide evidence for a role for spectrin in different steps of megakaryocyte development through its participation in the formation of invaginated membranes and in the maintenance of proplatelet structure.
When cleaved into a 120-kDa product by apoptotic proteases in salivary gland cells in vitro, alpha-fodrin is a successful pathogenic autoantigen for development of autoimmune exocrinopathy in the Sjogren syndrome model.
In heart muscle, alphaII-spectrin is located within the contractile fibres near the Z-disc as well as on the cardiomyocyte plasma membrane.
support a critical role for the alphaII-spectrin-SH3i isoform of spectrin in intracellular targeting of connexin 43 (zeige GJA1 ELISA Kits) to gap junctions
AlphaII-spectrin-VASP complexes regulate cortical actin cytoskeleton assembly with implications for vascular permeability.
Spectrin may be engaged in regulation of distinct events necessary for the establishment and maturity of the immunological synapse.
SPTAN1-related disorders comprise a wide spectrum of neurodevelopmental phenotypes ranging from mild to severe and progressive. Spectrin aggregate formation in fibroblasts with mutations in the alpha/beta heterodimerization domain seems to be associated with a severe neurodegenerative course.
Alpha-spectrin is critical for recruitment of non-ubiquitinated FANCD2 (zeige FANCD2 ELISA Kits) to sites of damage, which has an important role in the repair response and interstrand cross-link repair.
These results suggest that ubiquitin C-terminal hydrolase and alphaII-spectrin breakdown product 145 kDa may be useful in assessing outcome after pediatric traumatic brain injury.
Variations in both alpha-spectrin (SPTA1 (zeige SPTA1 ELISA Kits)) and beta-spectrin ( SPTB (zeige SPTB ELISA Kits) ) were found in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
aggressiveness of MLH1 (zeige MLH1 ELISA Kits)-positive colorectal cancers might be related to SPTAN1.
hypomyelination of the cerebral white matter was revealed at the age of 1 year, and a de novo heterozygous mutation in the SPTAN1 gene was confirmed
loss of SPTAN1 switches TGF-beta (zeige TGFB1 ELISA Kits) signaling from tumor suppression to tumor promotion by engaging Notch (zeige NOTCH1 ELISA Kits) signaling and activating SOX9 (zeige SOX9 ELISA Kits) in esophageal adenocarcinoma.
organization of a spectrin-like cytoskeleton is associated with keratinocyte differentiation, and cytoskeleton disruption is mediated by either PKCdelta (zeige PKCd ELISA Kits)(Thr505) phosphorylation associated with phosphorylated adducin or due to reduction of endogenous adducin
In-frame mutations in the C-terminus of SPTAN1 cause a core set of manifestations that include severe intellectual disability, generalized epilepsy, and pontocerebellar atrophy.
Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.
, spectrin alpha chain, brain
, spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)
, cardiomyocyte alpha-spectrin
, sequence with a GC signal
, alpha2 spectrin
, Spectrin alpha chain, brain
, alpha-II spectrin
, alpha-spectrin 2, brain
, fodrin alpha chain
, spectrin alpha 2
, spectrin alpha chain, non-erythrocytic 1
, spectrin, non-erythroid alpha chain
, spectrin, non-erythroid alpha subunit
, alpha II spectrin
, alpha-spectrin 2
, brain alpha-spectrin
, inhibitory protein factor
, noerythroid alpha-spectrin 2
, nonerythroid alpha-spectrin 2
, nonerythroid alpha-spectrin