ArticleInternational journal of molecular sciences2015
PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.
Article in International journal of molecular sciences, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 69 citations in OpenAlex.
- Paroxysmal kinesigenic dyskinesia: clinical report of 10 cases from three pedigrees with literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Genotypic and phenotypic spectrum of PRRT2-related variations: clinical analysis and treatment response in fourteen unrelated Chinese patients.BMC medical genomics · 2026Article
- Clinical and genetic analysis of PRRT2 gene mutations in a cohort of 21 pediatric patients: a case series.Frontiers in pediatrics · 2026Article
- Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.Annals of clinical and translational neurology · 2025Article
- Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.Neuroscience bulletin · 2024Review
- Long-term low-dose lamotrigine for paroxysmal kinesigenic dyskinesia: a two-year investigation of cognitive function in children.Frontiers in psychiatry · 2024Article
- Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.Nature genetics · 2023Article
- Exposure to SARS-CoV-2 and Infantile Diseases.Global medical genetics · 2023Article
- Characteristics of infantile convulsions and choreoathetosis syndrome caused byPediatric investigation · 2022Article
- Proline-rich transmembrane protein 2 specifically binds to GluA1 but has no effect on AMPA receptor-mediated synaptic transmission.Journal of clinical laboratory analysis · 2022Article
- Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders.Molecular genetics and metabolism · 2021Article
- Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.Neurogenetics · 2021Article
- Transcriptomic expression of AMPA receptor subunits and their auxiliary proteins in the human brain.Neuroscience letters · 2021Review
- Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.Neuroscience · 2020Article
- Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.Brain and behavior · 2020Article
- Identification of protein targets for the antidepressant effects ofNeural regeneration research · 2020Article
- Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.CNS neuroscience & therapeutics · 2020Article
- Proteomics-based screening of the target proteins associated with antidepressant-like effect and mechanism of Saikosaponin A.Journal of cellular and molecular medicine · 2020Article
- AMPA receptors and their minions: auxiliary proteins in AMPA receptor trafficking.Cellular and molecular life sciences : CMLS · 2019Review
- PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity.Brain : a journal of neurology · 2018Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paroxysmal kinesigenic choreoathetosis (PKC) is an inherited disease of the nervous system. We previously identified PRRT2 as the causative gene of PKC. However, as little is known about the function of PRRT2, elucidating its function will benefit not only PKC studies, but also many other related disorders. Here, we reveal higher levels of glutamate in the plasma of PKC patients and the culture medium of neurons following knock-out Prrt2 expression. Using double immunostaining assays we confirm Prrt2 is located at the glutamatergic neurons in accordance with its function. Our co-immunoprecipitation assays reveal mutant PRRT2 interferes with SNAP25 and GRIA1 interactions, respectively. Furthermore, using live-labeling techniques, we confirmed co-transfection with mutant PRRT2 caused an increase in GRIA1 distribution on the cell surface. Therefore, our results suggest that mutant PRRT2, probably through its weakened interaction with SNAP25, affects glutamate signaling and glutamate receptor activity, resulting in the increase of glutamate release and subsequent neuronal hyperexcitability.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.