Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

In Vivo Expression of an SCA27A-Linked FGF14 Mutation Results in Haploinsufficiency and Impaired Firing of Cerebellar Purkinje Neurons.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 18 Feb 2026

Ransdell Joseph L, Brown Samuel P, Xiao Maolei, Ornitz David M, Nerbonne Jeanne M

Abstract excerpt

Autosomal dominant mutations in FGF14, which encodes intracellular fibroblast growth factor 14 (iFGF14), underlie spinocerebellar ataxia type 27A (SCA27A), a devastating multisystem disorder resulting in progressive deficits in motor coordination and cognitive function. Mice lacking iFGF14 exhibit similar phenotypes, which have been linked to iFGF14-mediated modulation of the voltage-gated sodium (Nav) channels...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Action Potentials
Share to Cerebellum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblast Growth Factors

Share to Haploinsufficiency

Share to Mice, Transgenic

Share to Patch-Clamp Techniques

Share to Purkinje Cells

Share to Spinocerebellar Ataxias

Source

Open in PubMed Open full text

Identifiers

PMID: 41558966
DOI: 10.1523/JNEUROSCI.2016-24.2026
PMCID: PMC12925659

Genes

FGF14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

In Vivo Expression of an SCA27A-Linked FGF14 Mutation Results in Haploinsufficiency and Impaired Firing of Cerebellar Purkinje Neurons.PMID 41558966Read ↗

FGF14 regulates presynaptic Ca2+ channels and synaptic transmission.Semantic proximity Read ↗

Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27Semantic proximity Read ↗

The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability.Semantic proximity Read ↗

Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells.Semantic proximity Read ↗

Fibroblast growth factor 14 is an intracellular modulator of voltage‐gated sodium channelsSemantic proximity Read ↗

Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions.Semantic proximity Read ↗

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.Semantic proximity Read ↗

Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions.Semantic proximity Read ↗

SynTEF1 restores the functional disease phenotype of SCA27B in an hiPSC-derived neuronal disease modelSemantic proximity Read ↗

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.Semantic proximity Read ↗

Postnatal loss of P/Q-type channels confined to rhombic-lip-derived neurons alters synaptic transmission at the parallel fiber to purkinje cell synapse and replicates genomic Cacna1a mutation phenotype of ataxia and seizures in mice.Semantic proximity Read ↗

Loss of β-III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in HumansSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.