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Fodrin is a regulatory transporter of gamma-tubulin (zeige TUBG1 Antikörper) 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 (zeige SPTAN1 Antikörper) 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 Antikörper) 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 (zeige SPTAN1 Antikörper) is critical for recruitment of non-ubiquitinated FANCD2 (zeige FANCD2 Antikörper) 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 (zeige SPTAN1 Antikörper) (SPTA1 (zeige SPTA1 Antikörper)) and beta-spectrin ( SPTB (zeige SPTB Antikörper) ) were found in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
aggressiveness of MLH1 (zeige MLH1 Antikörper)-positive colorectal cancers might be related to SPTAN1 (zeige SPTAN1 Antikörper).
hypomyelination of the cerebral white matter was revealed at the age of 1 year, and a de novo heterozygous mutation in the SPTAN1 (zeige SPTAN1 Antikörper) gene was confirmed
loss of SPTAN1 (zeige SPTAN1 Antikörper) switches TGF-beta (zeige TGFB1 Antikörper) signaling from tumor suppression to tumor promotion by engaging Notch (zeige NOTCH1 Antikörper) signaling and activating SOX9 (zeige SOX9 Antikörper) in esophageal adenocarcinoma.
organization of a spectrin-like cytoskeleton is associated with keratinocyte differentiation, and cytoskeleton disruption is mediated by either PKCdelta (zeige PKCd Antikörper)(Thr505) phosphorylation associated with phosphorylated adducin or due to reduction of endogenous adducin
In-frame mutations in the C-terminus of SPTAN1 (zeige SPTAN1 Antikörper) 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.
, alpha-spectrin 2, brain
, fodrin alpha chain
, spectrin alpha 2
, spectrin alpha chain, brain
, 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