Ask about this productRelated genes to: RIC8A Blocking Peptide
- Gene:
- RIC8A NIH gene
- Name:
- RIC8 guanine nucleotide exchange factor A
- Previous symbol:
- -
- Synonyms:
- synembryn, synembryn-A
- Chromosome:
- 11p15.5
- Locus Type:
- gene with protein product
- Date approved:
- 2005-08-17
- Date modifiied:
- 2014-11-18
Related products to: RIC8A Blocking Peptide
Related articles to: RIC8A Blocking Peptide
- Primary cilia exhibit conserved organization and contain structural and functional domains of unique molecular composition. The inversin compartment (InvC), which is found in the proximal ciliary segment of a subset of vertebrate and invertebrate cell types, concentrates different classes of signaling molecules. Mutations in genes encoding resident proteins of the InvC manifest in ciliopathies, highlighting the importance of the InvC in cilia biology. We previously showed that a chaperone of Gα proteins RIC-8 localizes to the InvC of channel cilia; however, the mechanisms that regulate RIC-8 targeting to this ciliary sub-domain or RIC-8 function in the InvC remain unknown. Here, we build on our prior work to demonstrate that RIC-8 becomes restricted to the InvC during larval development and show that, while the RVxP motif and intact transition zone are required for its proper intraciliary distribution, RIC-8 localization to the cilium depends on intraflagellar transport. Using the ASH neuron as a model, we establish that RIC-8 functions in channel cilia to modulate chemosensory responses. Finally, we demonstrate that human RIC8A and RIC8B proteins are required for ciliogenesis in RPE-1 cells. Collectively, our results define ciliary trafficking mechanisms and novel cell-specific functions for a highly conserved signaling protein. - Source: PubMed
Publication date: 2026/02/09
Campagna ChristinaDescoteaux Abigail EPool AbigailPeet EricMalaiwong NawaphatO'Donnell Michael PNechipurenko Inna - Acute lymphoblastic leukemia (ALL) is the most common form of childhood cancer. Fingolimod (FTY720) is a sphingosine-1-phosphate (S1P) receptor agonist that prevents lymphocytes from egressing from lymphoid tissues and has shown a cytotoxic effect on T-cell ALL (T-ALL) cells. However, the mechanism of action of FTY720 cytotoxicity in hematological malignancies is still unclear, and cell-specific effects have been reported. Here, we investigated the mechanism of cytotoxicity of FTY720 in T-ALL cells using a CRISPR-Cas9 genomic screening. Our goal was to identify novel positive regulators for the cytotoxic effect of FTY720 in T-ALL. - Source: PubMed
Publication date: 2026/01/23
Ferreira de Vasconcellos JairaFriedman LeahSatapathy IshaCubbage NicolePalmer JasminMajumder SauravKono Mari - The etiology of severe childhood speech disorders, including childhood apraxia of speech (CAS), is currently understood as genetically heterogeneous, with over 40 distinct monogenic conditions reported to date. Among them, the p.Thr327Arg variant in GNAO1, encoding the major neuronal G protein Gαo, was identified in one patient diagnosed with CAS and intellectual disability (ID). This presentation is exceptionally rare, as GNAO1 mutations are commonly associated with epilepsy, hyperkinetic movement disorders, and global developmental delay, often accompanied by ID. - Source: PubMed
Publication date: 2025/12/12
Larasati Yonika AThiel MoritzSalazar-Villacorta AinaraKoval AlexeyKurian Manju AKoy AnneMorgan Angela TKatanaev Vladimir LSolis Gonzalo P - The panoramic mandibular index (PMI) and mental index (MI) assessed on dental panoramic radiographs (DPRs) have been postulated as useful for the assessment of adult bone health. However, their utility in children remains to be determined. Our objective was to establish genetic determinants of the PMI/MI and to evaluate the relationship between these indices and total body less-head bone mineral density (TBLH-BMD). - Source: PubMed
Publication date: 2025/11/24
Prijatelj VidGrgic-Chavez Oljavan der Tas JustinAndaur Navarro Constanza LUitterlinden Andre GRivadeneira FernandoWolvius Eppo BMedina-Gomez Carolina - -associated disorders have a large spectrum of neurological symptoms, from early-onset developmental and epileptic encephalopathies (DEE) to late-onset movement disorders. First reported in 2013 and now identified in around 400 cases worldwide, this disease is caused by dominant, mostly de novo missense mutations in , the gene encoding the major neuronal G protein Gαo. Being the immediate transducer of a number of neuronal G protein-coupled receptors, Gαo plays crucial functions in brain development and physiology. Here, we discover a novel mutation site in , Cys225 mutated to Tyr or Arg in pediatric individuals from France and China (p.(Cys225Tyr) and p.(Cys225Arg), respectively), leading to severe early-onset DEE. Molecular investigations characterize the novel pathogenic variants as deficient in the interactions with guanine nucleotides and physiological cellular partners of Gαo, with reduced stability and plasma membrane localization and a strong neomorphic interaction with the chaperone Ric8A. Salts of zinc, emerging as a promising targeted therapy for -associated disorders, impose a previously unseen effect on the mutant Gαo, accelerating the loss of its ability to interact with guanine nucleotides. Our study, combining clinical, cellular, molecular, and modeling approaches, describes deep insights into molecular etiology and treatment perspectives of the novel form of -associated disorders. - Source: PubMed
Publication date: 2025/05/07
Larasati Yonika ASolis Gonzalo PKoval AlexeyFrançois-Heude Marie-CélinePiarroux JulieRoubertie AgatheYang RuihanZhang YingCao DezhiKorff Christian MKatanaev Vladimir L