2024
Alternative translation initiation produces synaptic organizer proteoforms with distinct localization and functions
Lee P, Sun Y, Soares A, Fai C, Picciotto M, Guo J. Alternative translation initiation produces synaptic organizer proteoforms with distinct localization and functions. Molecular Cell 2024, 84: 3967-3978.e8. PMID: 39317199, PMCID: PMC11490368, DOI: 10.1016/j.molcel.2024.08.032.Peer-Reviewed Original ResearchTranslation initiation siteNeuronal pentraxin receptorAUG translational initiation siteAlternative translation initiation sitesN-terminal signal sequenceN-terminal transmembrane domainRNA secondary structureAlternative translation initiationN-terminal extensionTranslation initiationSignal sequenceProtein isoformsProtein localizationAUG initiatorTransmembrane domainWidespread mechanismSecondary structureInitiation siteAlternative usageAMPA-type glutamate receptorsProteoformsSecreted factorsProteinReduced AMPA receptorMRNA
2022
Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Yang F, Jiang X, Zhu Y, Lee M, Xu Z, Zhang J, Li Q, Lin M, Wang H, Lin Z. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2. Journal Of Investigative Dermatology 2022, 142: 2687-2694.e2. PMID: 35413293, DOI: 10.1016/j.jid.2022.03.023.Peer-Reviewed Original ResearchConceptsLanosterol synthaseBiallelic variantsType 2N-terminally truncated proteinLanosterol synthase genesAlternative translation initiationEarly-onset cataractLoss of enzymatic activityCholesterol biosynthesis pathwayPremature stop codonAutosomal recessive disorderCholesterol synthesis pathwayEx vivo studiesType 2 casesLanosterol levelsBiosynthesis pathwayTranslation initiationSplice siteStop codonClinical featuresGenetic basisCornified envelope formationRecessive disorderCausative genesSynthesis pathway
2007
Multiple translational isoforms give functional specificity to serum‐ and glucocorticoid‐induced kinase 1 (Sgk1)
Arteaga M, Canessa C. Multiple translational isoforms give functional specificity to serum‐ and glucocorticoid‐induced kinase 1 (Sgk1). The FASEB Journal 2007, 21: a547-a548. DOI: 10.1096/fasebj.21.5.a547-d.Peer-Reviewed Original ResearchN-terminusFunctional specificityEvolutionary distant speciesCore kinase domainFOXO transcriptional factorAlternative translation initiationNumerous cellular processesDifferent cellular compartmentsGlucocorticoid-induced kinase 1Glycogen synthase kinase 3bDiversity of functionsDifferent N-terminiDistant speciesER membraneCellular processesTranslation initiationSingle kinaseCellular compartmentsKinase domainT kinaseTranscriptional factorsDistinct substratesKinase 1ER stressCell survivalMultiple Translational Isoforms Give Functional Specificity to Serum- and Glucocorticoid-induced Kinase 1
Arteaga MF, de la Rosa D, Alvarez JA, Canessa CM. Multiple Translational Isoforms Give Functional Specificity to Serum- and Glucocorticoid-induced Kinase 1. Molecular Biology Of The Cell 2007, 18: 2072-2080. PMID: 17377066, PMCID: PMC1877090, DOI: 10.1091/mbc.e06-10-0968.Peer-Reviewed Original ResearchConceptsFunctional specificityKinase 1Core kinase domainGlycogen synthase kinase-3betaAlternative translation initiationDifferent cellular compartmentsSynthase kinase-3betaGlucocorticoid-induced kinase 1Different N-terminiActivation of SGK1ER membraneTranslation initiationCellular compartmentsKinase domainKinase-3betaUbiquitous kinaseTranscriptional factorsN-terminusDiverse processesEpithelial sodium channelLong isoformShort isoformER stressCell survivalTranslational isoforms
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