2024
VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1
Ugur B, Schueder F, Shin J, Hanna M, Wu Y, Leonzino M, Su M, McAdow A, Wilson C, Postlethwait J, Solnica-Krezel L, Bewersdorf J, De Camilli P. VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1. Journal Of Cell Biology 2024, 223: e202311189. PMID: 39331042, PMCID: PMC11451052, DOI: 10.1083/jcb.202311189.Peer-Reviewed Original ResearchConceptsLipid transportGolgi complex proteinGolgi subcompartmentsGolgi membranesGolgi cisternaeProtein familyFunctional partnersGolgi complexKO cellsComplex proteinsFAM177A1GolgiVPS13BAdjacent membranesMutationsProteinCohen syndromeLipidOrthologsInteractorsBrefeldinMembraneOrganellesSubcompartmentsDevelopmental disordersLoss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
Kohler J, Legro N, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt M, Shriver L, Patti G, Zhang B, Feng W, McAdow A, Goddard P, Ungar R, Jensen T, Smith K, Fresard L, Alvarez R, Bonner D, Reuter C, McCormack C, Kravets E, Marwaha S, Holt J, Network U, Acosta M, Adam M, Adams D, Alvarez R, Alvey J, Amendola L, Andrews A, Ashley E, Bacino C, Bademci G, Balasubramanyam A, Baldridge D, Bale J, Bamshad M, Barbouth D, Bayrak-Toydemir P, Beck A, Beggs A, Behrens E, Bejerano G, Bellen H, Bennett J, Berg-Rood B, Bernstein J, Berry G, Bican A, Bivona S, Blue E, Bohnsack J, Bonner D, Botto L, Boyd B, Briere L, Burke E, Burrage L, Butte M, Byers P, Byrd W, Carey J, Carrasquillo O, Cassini T, Chang T, Chanprasert S, Chao H, Chinn I, Clark G, Coakley T, Cobban L, Cogan J, Coggins M, Cole F, Colley H, Cope H, Corner B, Corona R, Craigen W, Crouse A, Cunningham M, D’Souza P, Dai H, Dasari S, Davis J, Dayal J, Dell’Angelica E, Dickson P, Dipple K, Doherty D, Dorrani N, Doss A, Douine E, Earl D, Eckstein D, Emrick L, Eng C, Ezell K, Falk M, Fieg E, Fisher P, Fogel B, Forghani I, Gahl W, Glass I, Gochuico B, Goddard P, Godfrey R, Golden-Grant K, Grajewski A, Hadley D, Hahn S, Halley M, Hamid R, Hassey K, Hayes N, High F, Hing A, Hisama F, Holm I, Hom J, Horike-Pyne M, Huang A, Hutchison S, Introne W, Isasi R, Izumi K, Jamal F, Jarvik G, Jarvik J, Jayadev S, Jean-Marie O, Jobanputra V, Karaviti L, Ketkar S, Kiley D, Kilich G, Kobren S, Kohane I, Kohler J, Korrick S, Kozuira M, Krakow D, Krasnewich D, Kravets E, Lalani S, Lam B, Lam C, Lanpher B, Lanza I, LeBlanc K, Lee B, Levitt R, Lewis R, Liu P, Liu X, Longo N, Loo S, Loscalzo J, Maas R, Macnamara E, MacRae C, Maduro V, Maghiro A, Mahoney R, Malicdan M, Mamounas L, Manolio T, Mao R, Maravilla K, Marom R, Marth G, Martin B, Martin M, MartÃnez-Agosto J, Marwaha S, McCauley J, McConkie-Rosell A, McCray A, McGee E, Mefford H, Merritt J, Might M, Mirzaa G, Morava E, Moretti P, Mulvihill J, Nakano-Okuno M, Nelson S, Neumann S, Newman J, Nicholas S, Nickerson D, Nieves-Rodriguez S, Novacic D, Oglesbee D, Orengo J, Pace L, Pak S, Pallais J, Palmer C, Papp J, Parker N, Phillips J, Posey J, Potocki L, Swerdzewski B, Quinlan A, Rao D, Raper A, Raskind W, Renteria G, Reuter C, Rives L, Robertson A, Rodan L, Rosenfeld J, Rosenwasser N, Rossignol F, Ruzhnikov M, Sacco R, Sampson J, Saporta M, Schaechter J, Schedl T, Schoch K, Scott D, Scott C, Seto E, Shashi V, Shin J, Silverman E, Sinsheimer J, Sisco K, Smith E, Smith K, Solnica-Krezel L, Solomon B, Spillmann R, Stoler J, Sullivan K, Sullivan J, Sun A, Sutton S, Sweetser D, Sybert V, Tabor H, Tan Q, Tan A, Tarakad A, Tekin M, Telischi F, Thorson W, Tifft C, Toro C, Tran A, Ungar R, Urv T, Vanderver A, Velinder M, Viskochil D, Vogel T, Wahl C, Walker M, Wallace S, Walley N, Wambach J, Wan J, Wangler M, Ward P, Wegner D, Hubshman M, Wener M, Wenger T, Westerfield M, Wheeler M, Whitlock J, Wolfe L, Worley K, Xiao C, Yamamoto S, Yang J, Zhang Z, Zuchner S, Worthey E, Ashley E, Montgomery S, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein J, Wheeler M. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. Genetics In Medicine 2024, 26: 101166. PMID: 38767059, PMCID: PMC11451386, DOI: 10.1016/j.gim.2024.101166.Peer-Reviewed Original ResearchNegative regulation of cell proliferationLoss-of-function variantsPathways associated with apoptosisRegulation of cell proliferationRelationship to human diseaseHuman cell linesNeurodevelopmental disordersRNA-seqLocalized proteinsImmune-associated genesZebrafish cellsGolgi complexModel organismsGlobal developmental delayBiallelic variantsFAM177A1Negative regulatorHuman diseasesZebrafish model organismPhysiological functionsCell linesGolgiHuman fibroblastsZebrafishCell proliferation
2023
End-binding protein 1 promotes specific motor-cargo association in the cell body prior to axonal delivery of dense core vesicles
Park J, Xie Y, Miller K, De Camilli P, Yogev S. End-binding protein 1 promotes specific motor-cargo association in the cell body prior to axonal delivery of dense core vesicles. Current Biology 2023, 33: 3851-3864.e7. PMID: 37586371, PMCID: PMC10529979, DOI: 10.1016/j.cub.2023.07.052.Peer-Reviewed Original ResearchConceptsKIF1A/UNCTrans-GolgiDense-core vesiclesEnd-binding protein 1Microtubule growthEnd-binding protein EB1Calponin homology domainMicrotubule-associated proteinsDCV biogenesisCore vesiclesSorting machineryHomology domainAxonal deliveryProtein EB1DCV cargosEndogenous cargoUnrelated proteinsUnexpected roleFunction experimentsGolgiEarly stepsProtein 1UNCNeuronal functionProtein
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