2025
SLC10A7 regulates O-GalNAc glycosylation and Ca2+ homeostasis in the secretory pathway: insights into SLC10A7-CDG
Durin Z, Layotte A, Morelle W, Houdou M, Folcher A, Legrand D, Lefeber D, Prevarskaya N, Von Blume J, Cormier-Daire V, Foulquier F. SLC10A7 regulates O-GalNAc glycosylation and Ca2+ homeostasis in the secretory pathway: insights into SLC10A7-CDG. Cellular And Molecular Life Sciences 2025, 82: 40. PMID: 39779512, PMCID: PMC11711720, DOI: 10.1007/s00018-024-05551-2.Peer-Reviewed Original ResearchConceptsCongenital disorders of glycosylationGlycan synthesisCa2+ homeostasisGolgi glycosylation defectsO-GalNAc glycosylationO-glycosylation defectRegulation of Ca2+ homeostasisGolgi transmembrane proteinCongenital disorders of glycosylation patientsDisorders of glycosylationGolgi homeostasisGolgi localizationGolgi compartmentSecretory pathwayHAP1 cellsProtein familyPatient fibroblastsGlycosylation defectsTransmembrane proteinsGalNAc residuesTransporter familyTight regulationGolgiGlycosylation abnormalitiesSLC10A7
2024
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency
Blanco E, Camps C, Bahal S, Kerai M, Ferla M, Rochussen A, Handel A, Golwala Z, Goncalves H, Kricke S, Klein F, Zhang F, Zinghirino F, Evans G, Keane T, Lizot S, Kusters M, Iro M, Patel S, Morris E, Burns S, Radcliffe R, Vasudevan P, Price A, Gillham O, Valdebenito G, Stewart G, Worth A, Adams S, Duchen M, André I, Adams D, Santili G, Gilmour K, Holländer G, Davies E, Taylor J, Griffiths G, Thrasher A, Dhalla F, Kreins A. Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency. Journal Of Experimental Medicine 2024, 222: e20220979. PMID: 39560673, PMCID: PMC11577440, DOI: 10.1084/jem.20220979.Peer-Reviewed Original ResearchConceptsStore-operated Ca2+ entryRelease of ER Ca2+Combined immunodeficiencyEndoplasmic reticulumDe novo missense variantDepletion of ER Ca2+ storesER Ca2+T cellsER Ca2+ storesDominant negative variantTriggers store-operated Ca2+ entryThymic T cell developmentInositol 1,4,5-trisphosphate receptorT cell developmentT-cell lymphopeniaT-cell immunodeficiencyCa2+ storesCa2+ entryCa2+ channelsMissense variantsT cell signalingPeripheral T cellsCa2+ homeostasisNegative variantsCa2+ dynamicsNCS-1 protein regulates TRPA1 channel through the PI3K pathway in breast cancer and neuronal cells
Sánchez J, Alemán A, Henao J, Olaya J, Ehrlich B. NCS-1 protein regulates TRPA1 channel through the PI3K pathway in breast cancer and neuronal cells. Journal Of Physiology And Biochemistry 2024, 80: 451-463. PMID: 38564162, PMCID: PMC11074019, DOI: 10.1007/s13105-024-01016-z.Peer-Reviewed Original ResearchConceptsTransient receptor potential channel ankyrin 1Breast cancerPI3K pathwayNCS-1Chemotherapy-induced peripheral neuropathyCa2+ channelsK pathwayCa2+ influxNCS-1 expressionBreast cancer cellsCa2+ sensorCa2+ homeostasisCa2+ dynamicsNeuronal calcium sensor-1MDA-MB-231Fura-2Open probabilityPain sensationAnkyrin 1Peripheral neuropathyTRPA1 channelsCo-ImmunoprecipitationChannel functionRegulatory componentsCellular pathways
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