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The protein encoded by FGF14 is a member of the fibroblast growth factor (FGF) family. Zusätzlich bieten wir Ihnen FGF14 Antikörper (46) und FGF14 Kits (3) und viele weitere Produktgruppen zu diesem Protein an.
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Human FGF14 Protein expressed in Escherichia coli (E. coli) - ABIN2005837
Zhao, Lim, Tan: Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor. in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007
Either the FGF14(V160A) or the FGF14(K74A/I76A) mutation was sufficient to abolish the FGF14-dependent regulation of peak transient Na(+) currents and the voltage-dependent activation and steady-state inactivation of Nav1.6 (zeige SCN8A Proteine); but only V160A with a concomitant alanine mutation at Tyr (zeige TYR Proteine)-158 could impede FGF14-dependent modulation of the channel fast inactivation.
study reports on a two-generation French Canadian family affected with autosomal dominant episodic ataxia (zeige USP14 Proteine) caused by a frameshift mutation leading to a premature stop codon in FGF14
identified the PI3K/Akt pathway, the cell-cycle regulator Wee1 kinase, and protein kinase C (PKC) as prospective regulatory nodes of neuronal excitability through modulation of the FGF14:Nav1.6 complex.
family demonstrates phenotypic variability of FGF14 deletions (SCA 27), fever sensitivity of ataxia (zeige USP14 Proteine) 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 (zeige USP14 Proteine) 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 (zeige USP14 Proteine)
A G->A variant was found in a single spinocerebellar ataxia (zeige USP14 Proteine) 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.
TWEAK (zeige TNFSF12 Proteine)/Fn14 (zeige TNFRSF12A Proteine) 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 (zeige CA2 Proteine)+ channels and synaptic transmission in cultured rat neurons.
Fgf14-deficient mice developed ataxia (zeige USP14 Proteine) 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 (zeige FGF12 Proteine)-/-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 (zeige SCN8A Proteine) 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 (zeige SCN8A Proteine) 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