2022
Two neuronal peptides encoded from a single transcript regulate mitochondrial complex III in Drosophila
Bosch J, Ugur B, Pichardo-Casas I, Rabasco J, Escobedo F, Zuo Z, Brown B, Celniker S, Sinclair D, Bellen H, Perrimon N. Two neuronal peptides encoded from a single transcript regulate mitochondrial complex III in Drosophila. ELife 2022, 11: e82709. PMID: 36346220, PMCID: PMC9681215, DOI: 10.7554/elife.82709.Peer-Reviewed Original ResearchConceptsSmall open reading framesClasses of genesShares sequence similarityOpen reading frameSequence similarityBicistronic transcriptBiological functionsPhenotypic analysisMitochondrial functionImportant regulatorThousands of peptidesNeuronal functionGenesWealth of informationTranscriptsAnimal lethalityPeptidesRecent studiesParalogsDrosophilaSmORFsMitochondriaRegulatorRegulatesNeuronal peptides
2018
IRF2BPL Is Associated with Neurological Phenotypes
Marcogliese P, Shashi V, Spillmann R, Stong N, Rosenfeld J, Koenig M, Martínez-Agosto J, Herzog M, Chen A, Dickson P, Lin H, Vera M, Salamon N, Graham J, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung H, Zuo Z, Lee P, Kanca O, Xia F, Yang Y, Smith E, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl D, Golden-Grant K, Diseases P, Callens S, Coucke P, Dermaut B, Hemelsoet D, Poppe B, Steyaert W, Terryn W, Van Coster R, Network U, Adams D, Alejandro M, Allard P, Azamian M, Bacino C, Balasubramanyam A, Barseghyan H, Batzli G, Beggs A, Behnam B, Bican A, Bick D, Birch C, Bonner D, Boone B, Bostwick B, Briere L, Brown D, Brush M, Burke E, Burrage L, Chen S, Clark G, Coakley T, Cogan J, Cooper C, Cope H, Craigen W, D’Souza P, Davids M, Dayal J, Dell’Angelica E, Dhar S, Dillon A, Dipple K, Donnell-Fink L, Dorrani N, Dorset D, Douine E, Draper D, Eckstein D, Emrick L, Eng C, Eskin A, Esteves C, Estwick T, Ferreira C, Fogel B, Friedman N, Gahl W, Glanton E, Godfrey R, Goldstein D, Gould S, Gourdine J, Groden C, Gropman A, Haendel M, Hamid R, Hanchard N, Handley L, Herzog M, Holm I, Hom J, Howerton E, Huang Y, Jacob H, Jain M, Jiang Y, Johnston J, Jones A, Kohane I, Krasnewich D, Krieg E, Krier J, Lalani S, Lau C, Lazar J, Lee B, Lee H, Levy S, Lewis R, Lincoln S, Lipson A, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Majcherska M, Malicdan M, Mamounas L, Manolio T, Markello T, Marom R, Martínez-Agosto J, Marwaha S, May T, McConkie-Rosell A, McCormack C, McCray A, Might M, Moretti P, Morimoto M, Mulvihill J, Murphy J, Muzny D, Nehrebecky M, Nelson S, Newberry J, Newman J, Nicholas S, Novacic D, Orange J, Pallais J, Palmer C, Papp J, Parker N, Pena L, Phillips J, Posey J, Postlethwait J, Potocki L, Pusey B, Reuter C, Robertson A, Rodan L, Rosenfeld J, Sampson J, Samson S, Schoch K, Schroeder M, Scott D, Sharma P, Shashi V, Signer R, Silverman E, Sinsheimer J, Smith K, Spillmann R, Splinter K, Stoler J, Stong N, Sullivan J, Sweetser D, Tifft C, Toro C, Tran A, Urv T, Valivullah Z, Vilain E, Vogel T, Wahl C, Walley N, Walsh C, Ward P, Waters K, Westerfield M, Wise A, Wolfe L, Worthey E, Yamamoto S, Yang Y, Yu G, Zastrow D, Zheng A, Yamamoto S, Wangler M, Mirzaa G, Hemelsoet D, Lee B, Nelson S, Goldstein D, Bellen H, Pena L. IRF2BPL Is Associated with Neurological Phenotypes. American Journal Of Human Genetics 2018, 103: 245-260. PMID: 30057031, PMCID: PMC6081494, DOI: 10.1016/j.ajhg.2018.07.006.Peer-Reviewed Original ResearchMissense variantsRange of phenotypesNeurological phenotypeProper neuronal functionNonsense variantPopulation genomicsModel organismsTranscriptional regulatorsFunction allelesPartial knockdownEctopic expressionRNA interferenceNonsense allelesBiological functionsMendelian diseasesDamaging heterozygous variantsGenesIRF2BPLNeuronal functionPhenotypeAdditional individualsComplete lossNervous systemMild phenotypeAlleles
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