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 …

Dec 25, 2024 · FGF14 (Fibroblast Growth Factor 14) is a Protein Coding gene. Diseases associated with FGF14 include Spinocerebellar Ataxia 27A and Spinocerebellar Ataxia 27B, …

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 …

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 …

Dec 14, 2022 · 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 …

Jan 4, 2025 · Title: GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. The FGF14 GAA repeat …

Jan 19, 2024 · 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 …

Jan 4, 2025 · FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, …

Jun 27, 2024 · 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 …

Apr 27, 2023 · 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 …

Oct 2, 2023 · 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 …

The four fibroblast growth factor homologous factors (FHFs; FGF11-FGF14) are intracellular proteins that bind and modulate voltage-gated sodium channels (VGSCs). Although FHFs …

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 …

Oct 7, 2022 · 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 …

Sep 3, 2024 · By combining long-range PCR and nanopore sequencing in 169 patients with cerebellar ataxia and 802 controls, we compare FGF14 expansion alleles, including …

Feb 11, 2025 · 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 …

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 …

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 …