2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. American Journal Of Human Genetics 2021, 108: 2006-2016. PMID: 34626583, PMCID: PMC8546233, DOI: 10.1016/j.ajhg.2021.08.003.Peer-Reviewed Original ResearchConceptsSensorineural hearing lossCerebral palsyHearing lossBi-allelic variantsInner earRodent inner earDevelopmental delay/intellectual disabilityThin corpus callosumGlial cell nucleiIntellectual disabilityRat hippocampal neuronsWhite matter volumeNeurosensory hair cellsPeriventricular leukomalaciaQuantitative volumetryCerebral volumeCorpus callosumHippocampal neuronsMatter volumeReceptor functionBrain imagingHair cellsProminent expressionNeurodevelopmental phenotypesAffected individualsCD209L/L-SIGN and CD209/DC-SIGN Act as Receptors for SARS-CoV‑2
Amraei R, Yin W, Napoleon M, Suder E, Berrigan J, Zhao Q, Olejnik J, Chandler K, Xia C, Feldman J, Hauser B, Caradonna T, Schmidt A, Gummuluru S, Mühlberger E, Chitalia V, Costello C, Rahimi N. CD209L/L-SIGN and CD209/DC-SIGN Act as Receptors for SARS-CoV‑2. ACS Central Science 2021, 7: 1156-1165. PMID: 34341769, PMCID: PMC8265543, DOI: 10.1021/acscentsci.0c01537.Peer-Reviewed Original ResearchSARS-CoV-2 spike receptor-binding domainSARS-CoV-2SARS-CoV-2 entryL-SIGNSARS-CoV-2 infectionCD209/DC-SIGNSpike receptor-binding domainAntiviral drug developmentReceptor-binding domainCell typesHuman endothelial cellsDC-SIGNAlternative receptorLow expressionEndothelial cellsImmunofluorescence stainingCD209Virus entryACE2Disease-relevant cell typesProminent expressionCD209LKidney epitheliumReceptorsDrug development
2002
Functional characterization and immunolocalization of the transporter encoded by the life-extending gene Indy
Knauf F, Rogina B, Jiang Z, Aronson PS, Helfand SL. Functional characterization and immunolocalization of the transporter encoded by the life-extending gene Indy. Proceedings Of The National Academy Of Sciences Of The United States Of America 2002, 99: 14315-14319. PMID: 12391301, PMCID: PMC137881, DOI: 10.1073/pnas.222531899.Peer-Reviewed Original ResearchConceptsPlasma membraneLife-extending mutationsNew longevity genesIntermediary metabolismAdult fat bodyIndy expressionCitric acid cycleLife-extending effectsMetabolite transportersVariety of speciesLongevity genesFunctional characterizationLife spanMidgut cellsFat bodyAcid cycleFunctional studiesXenopus oocytesTransport functionIndyBasolateral regionSodium-independent mechanismProminent expressionAverage life spanTransporters
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