Fibroblast growth factor 14 is a biologically active protein that in humans is encoded by the FGF14 gene. [5] [6] [7] The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family.

2024年12月25日 · FGF14 (Fibroblast Growth Factor 14) is a Protein Coding gene. Diseases associated with FGF14 include Spinocerebellar Ataxia 27A and Spinocerebellar Ataxia 27B, Late-Onset. Among its related pathways are Apoptotic Pathways in …

Genetic ablation of the fibroblast growth factor (Fgf) 14 gene in mice or a missense mutation in Fgf14 in humans causes ataxia and cognitive deficits. These phenotypes suggest that the neuronally expressed Fgf14 gene is essential for regulating normal neuronal activity.

FGF14 mutations in Ataxia and childhood onset postural tremor. a distinct SCA (spinocerebellar ataxia)phenotype (SCA27) is associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34.

2022年12月14日 · In the six French Canadian patients, we identified a GAA repeat expansion deep in the first intron of FGF14, which encodes fibroblast growth factor 14. Cosegregation of the repeat expansion with...

2025年1月4日 · Title: GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.

2024年1月19日 · The FGF14 repeat expansion discovery marks the fact that we are now able to genetically explain a significant portion of ataxias previously labeled as idiopathic, which is thus likely a finite concept.

2025年1月4日 · 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.

2024年6月27日 · Here, we assessed the FGF14 (GAA)· (TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a common 5′-flanking variant in 70.34% of alleles analyzed...

2023年4月27日 · The FGF14 gene encodes fibroblast growth factor-14, which is highly expressed in the brain, particularly in Purkinje cells where it interacts with voltage-gated channels to regulate neuronal excitability. FGF14 also plays a role in synaptic plasticity and neurogenesis in the hippocampus (summary by Piarroux et al., 2020).

2023年10月2日 · We aimed to assess the size and frequency of FGF14 expanded alleles in individuals with cerebellar ataxia as compared with controls and to characterize genetic and clinical variability.

The four fibroblast growth factor homologous factors (FHFs; FGF11-FGF14) are intracellular proteins that bind and modulate voltage-gated sodium channels (VGSCs). Although FHFs have been well studied in neurons and implicated in neurologic disease, their role in cardiomyocytes was unclear until recently.

Mutations in FGF14, which encodes intracellular fibroblast growth factor 14 (iFGF14), have been linked to spinocerebellar ataxia (SCA27). In addition, mice lacking Fgf14 (Fgf14 −/−) exhibit an ataxia phenotype resembling SCA27, accompanied by marked changes in the excitability of cerebellar granule and Purkinje neurons. It is not known ...

2022年10月7日 · FGF14 encodes an intracellular fibroblast growth factor involved in multiple neuronal processes, including channel gating and neuronal excitability .

The fibroblast growth factor 14 (FGF14) gene is located at chromosome 14q34 (Table 1). FGF14 belongs to the intracellular FGF homologous factor family (iFGFs), a set of neuronally expressed FGFs (iFGF11–14) that are not secreted and do not activate tyrosine kinase receptors.

2024年9月3日 · By combining long-range PCR and nanopore sequencing in 169 patients with cerebellar ataxia and 802 controls, we compare FGF14 expansion alleles, including interruptions and flanking regions.

2025年2月11日 · FGF14 is localized in a decreasing proximal to distal gradient along the axon initial segment of Purkinje neurons. FGF14 regulates presynaptic Ca2+ channels and synaptic transmission in cultured rat neurons.

Here, we provide evidence for a previously undescribed function of fibroblast growth factor 14 (FGF14), a brain disease-associated factor that controls neuronal excitability and synaptic plasticity, in regulating adult neurogenesis in the dentate gyrus (DG).

lovd: fgf14 Diseases List Disease-causing germline mutation(s) in Spinocerebellar ataxia type 27A ORPHA:98764

The fibroblast growth factor 14 (FGF14) gene is located at chromosome 14q34 (Table 1). FGF14 belongs to the intracellular FGF homologous factor family (iFGFs), a set of neuronally expressed FGFs (iFGF11–14) that are not secreted and do not activate tyrosine kinase receptors.