FGF14 Antibody

1. The data implicate FGF14 as an organizer of channel localization in the axon initial segment and provide insight into the coordination of KCNQ and voltage-gated sodium channel conductances in the regulation of membrane potential. PMID: 27994149
2. 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; but only V160A with a concomitant alanine mutation at Tyr-158 could impede FGF14-dependent modulation of the channel fast inactivation. PMID: 26994141
3. study reports on a two-generation French Canadian family affected with autosomal dominant episodic ataxia caused by a frameshift mutation leading to a premature stop codon in FGF14 PMID: 25566820
4. 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. PMID: 25659151
5. family demonstrates phenotypic variability of FGF14 deletions (SCA 27), fever sensitivity of ataxia and the added value of SNP-array analysis in making a diagnosis PMID: 24252256
6. 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. PMID: 23640885
7. THe present study demonstrates that Spinocerebellar ataxia type 27 (SCA27) caused by FGF14 mutation is rare in Chinese SCA patients. PMID: 22579694
8. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia PMID: 12489043
9. A G->A variant was found in a single spinocerebellar ataxia 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. PMID: 15365159
10. Frameshift mutation and polymorphisms in the fibroblast growth factor 14 gene is associated with ataxias PMID: 15470364
11. these findings implicate FGF14 as a unique modulator of Nav channel activity in the CNS. PMID: 16166153
12. a distinct SCA (spinocerebellar ataxia)phenotype (SCA27) is associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. PMID: 16211615
13. FGF14 mutations in Ataxia and childhood onset postural tremor. PMID: 17221845

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HGNC: 3671

OMIM: 601515

KEGG: hsa:2259

STRING: 9606.ENSP00000365301

UniGene: Hs.508616