Ask about this productRelated genes to: TRPM3 Blocking Peptide
- Gene:
- TRPM3 NIH gene
- Name:
- transient receptor potential cation channel subfamily M member 3
- Previous symbol:
- -
- Synonyms:
- KIAA1616, LTRPC3, GON-2
- Chromosome:
- 9q21.12-q21.13
- Locus Type:
- gene with protein product
- Date approved:
- 2002-01-11
- Date modifiied:
- 2018-02-13
Related products to: TRPM3 Blocking Peptide
Related articles to: TRPM3 Blocking Peptide
- In many tissues, stem cells are found lining fluid-filled cavities, and their neighboring niche cells include cells with beating cilia. However, the role of mechanical forces created by cilia beating on stem cells remains elusive. We developed an approach to transiently inhibit the cilia beating of ependymal cells (ECs) lining the forebrain ventricle by injecting magnetic bead-coupled antibodies targeting EC cilia and then applying a magnetic field. We show that EC cilia beating enforces neural stem cell (NSC) quiescence through mechano-sensitive polycystin 1/2 (PKD1/2)- and transient receptor potential melastatin 3 (TRPM3)-mediated Ca transients. Only a few hours of EC cilia beating inhibition triggered NSC activation in vivo. CRISPR-Cas9-mediated deletion of TRPM3 or PKD1/2 in NSCs phenocopied the effect of EC cilia beating inhibition, whereas pharmacological activation of TRPM3 rescued NSC quiescence in the absence of cilia beating. Our data reveal that mechanical forces generated by EC cilia beating regulate NSC quiescence/activation dynamics. - Source: PubMed
Publication date: 2026/05/13
Bressan CedricGengatharan ArchanaRodriguez-Aller RaquelRichter Maria LSnapyan MarinaFischer-Sternjak JudithRoukerd Maryam RezaeezadehRosin NicoleCherinet AbigailBiernaskie JeffHabibi EhsanGötz MagdalenaSaghatelyan Armen - Osteoarthritis (OA) is a degenerative joint disease characterized by chronic pain. We investigated whether the ion channel transient receptor potential melastatin 3 (TRPM3), expressed in sensory neurons, mediates OA pain. - Source: PubMed
Publication date: 2026/05/09
da Costa RobsonPereira SuelenGentry CliveDias Fabiana CAlmeida Bianca de LimaMaurer MargotPrimicheru Laura IMoreira LioMannebach StefanieWeissgerber PetraPhilipp Stephan EAndersson David ABevan Stuart - Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it. We performed a systematic review to identify the genetic diagnoses in which AASE has been described, and examined the available clinical, EEG, treatment and outcome details. The protocol was registered in PROSPERO and reporting followed PRISMA guidelines. We searched public databases for combinations of the terms: "atypical absence status epilepticus," "status epilepticus," "non convulsive status epilepticus," and "gene," "genetics," "epileptic encephalopathy," "developmental and epileptic encephalopathy," "DEE." Only original articles in English were included. We identified 34 publications reporting 97 patients with AASE and an underlying genetic condition. Most patients had a chromosomal abnormality (88%), in particular ring chromosome 20 (53% of the total patients) and Angelman syndrome caused by a 15q11-q13 deletion (31%). Seven epilepsy genes (UBE3A, CNKSR2, TRPM3, KCNH2, NEXMIF, SYNGAP1, GABRB1) were found in which a clinical and electrographic picture consistent with AASE was described. Therefore, in the context of a possible genetic diagnosis, AASE has been reported mainly in chromosomal disorders. However, this condition is likely underrecognized and underreported, particularly in monogenic epilepsies. Therefore, a deeper phenotyping and a more standardized use of classification terms would be necessary both for clinical and research purposes. PLAIN LANGUAGE SUMMARY: We reviewed the scientific literature to find out in which genetic conditions a rare EEG and clinical pattern, called atypical absence status epilepticus, has been described. We found that this pattern is mainly reported in patients with changes in chromosome structure, such as ring chromosome 20 and Angelman syndrome. Among single-gene (monogenic) forms of epilepsy, it has been described in association with seven genes (UBE3A, CNKSR2, TRPM3, KCNH2, NEXMIF, SYNGAP1, GABRB1). When clinicians suspect a genetic cause of epilepsy and this finding is present, they should consider checking also for chromosomal changes. - Source: PubMed
Publication date: 2026/05/11
Cioclu Maria CristinaGiovannini GiadaMeletti Stefano - In this issue of Neuron, Yang et al. report cryo-EM structures of the heat-sensing ion channel TRPM3. Leveraging a structure-based virtual screen to identify and optimize novel inhibitors, they demonstrate that a newly discovered potent and selective TRPM3 antagonist produces analgesia in various rodent pain models. - Source: PubMed
Burton Carter DRohacs Tibor - Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (D/EE-SWAS) represents a rare but severe group of childhood onset epilepsies characterized by sleep-potentiated epileptiform activity, seizures, and developmental stagnation or regression affecting cognition, language, and behavior. Once considered a self-limited electroencephalographic (EEG) phenomenon, D/EE-SWAS is now recognized as a disorder of brain network dysfunction in which persistent epileptiform discharges during non-rapid eye movement sleep disrupt synaptic plasticity, sleep-dependent memory consolidation, and neurodevelopmental trajectories. This review synthesizes recent advances in clinical phenotyping, genetics, neurophysiology, and therapeutics. Etiologically, D/EE-SWAS is highly heterogeneous, with pathogenic variants identified in nearly half of affected individuals, including copy number variants and single-gene disorders involving ion channels, synaptic proteins, and transcriptional regulators. GRIN2A is the most frequently implicated gene, although marked intrafamilial and interfamilial variability underscores the role of modifying genetic and network-level factors. Structural lesions-particularly those affecting thalamocortical circuits-represent another major disease substrate and are critical for treatment stratification. At the mechanistic level, abnormal thalamocortical oscillations, impaired sleep architecture, and disruption of slow-wave and spindle activity provide a pathophysiological framework linking EEG abnormalities to cognitive and behavioral deterioration. Neuroimaging and EEG-functional magnetic resonance imaging studies support a model of widespread network inhibition and disconnection extending beyond the primary epileptogenic zone. Therapeutically, corticosteroids currently represent the most effective first-line treatment, demonstrating superior cognitive outcomes compared with benzodiazepines, although relapse after tapering is common, and optimal dosing strategies remain undefined. Precision medicine approaches, including N-methyl-D-aspartate receptor-targeted therapies for GRIN variants and channel-specific treatments such as primidone for TRPM3 gain of function, offer promising avenues toward disease modification. Epilepsy surgery should be considered early in children with unilateral structural etiologies, where it can provide substantial neurodevelopmental benefit. Future priorities include standardized outcome measures, integration of sleep-based biomarkers, refinement of steroid protocols, and international collaborative trials to improve long-term neurodevelopmental outcomes in this vulnerable population. - Source: PubMed
Publication date: 2026/04/28
Specchio NicolaAuvin StéphaneBrunklaus AndreasDe Giorgis ValentinaDi Micco ValentinaGardella ElenaJansen Floor ENabbout RimaPepi ChiaraRubboli GuidoTrivisano MarinaCuratolo Paolo