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The protein encoded by FGF14 is a member of the fibroblast growth factor (FGF) family. Additionally we are shipping FGF14 Antibodies (40) and FGF14 Proteins (9) and many more products for this protein.
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study reports on a two-generation French Canadian family affected with autosomal dominant episodic ataxia (show USP14 ELISA Kits) caused by a frameshift mutation leading to a premature stop codon in FGF14
identified the PI3K (show PIK3CA ELISA Kits)/Akt (show AKT1 ELISA Kits) pathway, the cell-cycle regulator Wee1 kinase (show WEE1 ELISA Kits), and protein kinase C (PKC (show PKC ELISA Kits)) as prospective regulatory nodes of neuronal excitability through modulation of the FGF14:Nav1.6 (show SCN8A ELISA Kits) complex.
family demonstrates phenotypic variability of FGF14 deletions (SCA 27), fever sensitivity of ataxia (show USP14 ELISA Kits) and the added value of SNP-array analysis in making a diagnosis
inhibition of GSK3 reduces the assembly of the FGF14.Nav channel complex, modifies FGF14-dependent regulation of Na(+) currents, and induces dissociation and subcellular redistribution of the native FGF14.Nav channel complex in hippocampal neurons.
THe present study demonstrates that Spinocerebellar ataxia (show USP14 ELISA Kits) type 27 (SCA27) caused by FGF14 mutation is rare in Chinese SCA patients.
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia (show USP14 ELISA Kits)
A G->A variant was found in a single spinocerebellar ataxia (show USP14 ELISA Kits) patient in the 3' untranslated region, 31 bp to the STOP codon; it did not affect the polyadenylation site. FGF14 mutations are not a major cause of SCA in Caucasians.
Frameshift mutation and polymorphisms in the fibroblast growth factor 14 gene is associated with ataxias
these findings implicate FGF14 as a unique modulator of Nav channel activity in the CNS.
a distinct SCA (spinocerebellar ataxia (show USP14 ELISA Kits))phenotype (SCA27) is associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34.
TWEAK (show TNFSF12 ELISA Kits)/Fn14 (show TNFRSF12A ELISA Kits) pathway instrumental in the pathogenesis of spontaneous lupus nephritis
FGF14 is localized in a decreasing proximal to distal gradient along the axon initial segment of Purkinje neurons.
FGF14 regulates presynaptic Ca2 (show CA2 ELISA Kits)+ channels and synaptic transmission in cultured rat neurons.
Fgf14-deficient mice developed ataxia (show USP14 ELISA Kits) and a paroxysmal hyperkinetic movement disorder. FGF14 may mediate neuronal signaling, axonal trafficking and synaptosomal function.
FGF14 in regulating synaptic plasticity via presynaptic mechanisms by affecting the mobilization, trafficking, or docking of synaptic vesicles to presynaptic active zones.
these results suggest a role for FGF14 in certain spatial learning functions and synaptic plasticity
Sodium channels in Fhf1 (show FGF12 ELISA Kits)-/-Fhf4-/- granule neurons inactivate at more negative membrane potential, inactivate more rapidly, and are slower to recover from the inactivated state.
results suggest that FGF14 is required for normal Nav1.6 (show SCN8A ELISA Kits) expression in Purkinje neurons, and that the loss of FGF14 impairs spontaneous and repetitive firing in Purkinje neurons by altering the expression of Nav1.6 (show SCN8A ELISA Kits) channels
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene.
fibroblast growth factor homologous factor 4
, fibroblast growth factor 14
, FGF homologus factor 4b