2020
TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS
Cunningham K, Maulding K, Ruan K, Senturk M, Grima J, Sung H, Zuo Z, Song H, Gao J, Dubey S, Rothstein J, Zhang K, Bellen H, Lloyd T. TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS. ELife 2020, 9: e59419. PMID: 33300868, PMCID: PMC7758070, DOI: 10.7554/elife.59419.Peer-Reviewed Original ResearchMeSH KeywordsActive Transport, Cell NucleusAmyotrophic Lateral SclerosisAnimalsAutophagyBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBlotting, WesternC9orf72 ProteinDisease Models, AnimalDrosophila melanogasterFemaleFluorescent Antibody TechniqueFrontotemporal DementiaHeLa CellsHumansLysosomesMaleMicrophthalmia-Associated Transcription FactorMicroscopy, Electron, TransmissionMotor CortexConceptsNucleocytoplasmic transportNuclear importC9-ALS/FTDKey transcriptional regulatorAutophagic cargo degradationNeurodegenerative disease pathogenesisLysosome-like organellesProteostasis defectsGGGGCC hexanucleotide repeat expansionTranscriptional regulatorsCargo degradationKey regulatorUbiquitinated aggregatesCytoplasmic mislocalizationHuman cellsAmyotrophic lateral sclerosisGGGGCC repeatsHexanucleotide repeat expansionRepeat expansionFrontotemporal dementiaTFEBC9-ALSAutophagyRegulatorPotent suppressor
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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