{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T16:54:08Z","timestamp":1788368048875,"version":"build-2803163510"},"reference-count":78,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,9,1]],"date-time":"2024-09-01T00:00:00Z","timestamp":1725148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T00:00:00Z","timestamp":1724716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["DC000082"],"award-info":[{"award-number":["DC000082"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["DIR DC000039"],"award-info":[{"award-number":["DIR DC000039"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jbc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Biological Chemistry"],"published-print":{"date-parts":[[2024,9]]},"DOI":"10.1016\/j.jbc.2024.107725","type":"journal-article","created":{"date-parts":[[2024,8,28]],"date-time":"2024-08-28T12:11:18Z","timestamp":1724847078000},"page":"107725","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants"],"prefix":"10.1016","volume":"300","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0878-8587","authenticated-orcid":false,"given":"Risa","family":"Tona","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9064-0762","authenticated-orcid":false,"given":"Sayaka","family":"Inagaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuko","family":"Ishibashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabia","family":"Faridi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rizwan","family":"Yousaf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7527-7520","authenticated-orcid":false,"given":"Isabelle","family":"Roux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0035-5341","authenticated-orcid":false,"given":"Elizabeth","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Fenollar-Ferrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3865-3918","authenticated-orcid":false,"given":"Wade W.","family":"Chien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inna A.","family":"Belyantseva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas B.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jbc.2024.107725_bib1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1042\/BSR20100112","article-title":"TBC proteins: GAPs for mammalian small GTPase Rab?","volume":"31","author":"Fukuda","year":"2011","journal-title":"Biosci. Rep."},{"key":"10.1016\/j.jbc.2024.107725_bib2","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1107\/S2053230X21006853","article-title":"Crystal structure of the TLDc domain of human NCOA7-AS","volume":"77","author":"Arnaud-Arnould","year":"2021","journal-title":"Acta Crystallogr. F Struct. Biol. Commun."},{"key":"10.1016\/j.jbc.2024.107725_bib3","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/s00335-017-9706-7","article-title":"TLDc proteins: new players in the oxidative stress response and neurological disease","volume":"28","author":"Finelli","year":"2017","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.jbc.2024.107725_bib4","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1002\/humu.22557","article-title":"TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss","volume":"35","author":"Azaiez","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jbc.2024.107725_bib5","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.ajhg.2013.12.004","article-title":"Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86","volume":"94","author":"Rehman","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jbc.2024.107725_bib6","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/humu.22558","article-title":"A\u00a0dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment","volume":"35","author":"Zhang","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jbc.2024.107725_bib7","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1212\/WNL.0000000000002807","article-title":"TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features","volume":"87","author":"Balestrini","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.jbc.2024.107725_bib8","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.ajhg.2010.07.020","article-title":"TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy","volume":"87","author":"Falace","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jbc.2024.107725_bib9","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1093\/hmg\/ddy445","article-title":"The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy","volume":"28","author":"Tona","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jbc.2024.107725_bib10","doi-asserted-by":"crossref","first-page":"553","DOI":"10.12688\/f1000research.10588.1","article-title":"Case Report: novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability","volume":"6","author":"Banuelos","year":"2017","journal-title":"F1000Res"},{"key":"10.1016\/j.jbc.2024.107725_bib11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0138072","article-title":"Recessive TBC1D24 mutations are frequent in Moroccan non-syndromic hearing loss pedigrees","volume":"10","author":"Bakhchane","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.jbc.2024.107725_bib12","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/s41436-020-00950-9","article-title":"DOORS syndrome and a recurrent truncating ATP6V1B2 variant","volume":"23","author":"Beauregard-Lacroix","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.jbc.2024.107725_bib13","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.c.31412","article-title":"DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome","volume":"166C","author":"Campeau","year":"2014","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"10.1016\/j.jbc.2024.107725_bib14","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S1474-4422(13)70265-5","article-title":"The genetic basis of DOORS syndrome: an exome-sequencing study","volume":"13","author":"Campeau","year":"2014","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.jbc.2024.107725_bib15","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.3390\/genes11101122","article-title":"Mouse models of human pathogenic variants of TBC1D24 associated with non-syndromic deafness DFNB86 and\u00a0DFNA65 and syndromes involving deafness","volume":"11","author":"Tona","year":"2020","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.jbc.2024.107725_bib16","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1038\/nrd4126","article-title":"New avenues for anti-epileptic drug discovery and development","volume":"12","author":"Loscher","year":"2013","journal-title":"Nat. Rev. Drug Discov."},{"key":"10.1016\/j.jbc.2024.107725_bib17","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/nrm3267","article-title":"Illuminating the functional and structural repertoire of human TBC\/RABGAPs","volume":"13","author":"Frasa","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.jbc.2024.107725_bib18","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/nature04847","article-title":"TBC-domain GAPs for Rab GTPases accelerate GTP hydrolysis by a dual-finger mechanism","volume":"442","author":"Pan","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2024.107725_bib19","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002338","article-title":"Oxr1 is essential for protection against oxidative stress-induced neurodegeneration","volume":"7","author":"Oliver","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.jbc.2024.107725_bib20","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1016\/j.ajhg.2019.11.002","article-title":"Loss of oxidation resistance 1, OXR1, is associated with an autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction","volume":"105","author":"Wang","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jbc.2024.107725_bib21","article-title":"The evolutionary conserved TLDc domain defines a new class of (H(+))V-ATPase interacting proteins","volume":"11","author":"Eaton","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.jbc.2024.107725_bib22","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2021109360","article-title":"Oxidative stress protein Oxr1 promotes V-ATPase holoenzyme disassembly in catalytic activity-independent manner","volume":"41","author":"Khan","year":"2022","journal-title":"EMBO J."},{"key":"10.1016\/j.jbc.2024.107725_bib23","doi-asserted-by":"crossref","first-page":"3272","DOI":"10.1038\/s41467-022-30899-z","article-title":"Molecular basis of mEAK7-mediated human V-ATPase regulation","volume":"13","author":"Wang","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.jbc.2024.107725_bib24","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1093\/hmg\/ddy370","article-title":"The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons","volume":"28","author":"Finelli","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jbc.2024.107725_bib25","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.cell.2011.02.039","article-title":"Loss of skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins","volume":"145","author":"Uytterhoeven","year":"2011","journal-title":"Cell"},{"key":"10.1016\/j.jbc.2024.107725_bib26","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1083\/jcb.201406026","article-title":"Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24\/sky-induced neurodegeneration","volume":"207","author":"Fernandes","year":"2014","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.jbc.2024.107725_bib27","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1038\/nsmb.3297","article-title":"Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function","volume":"23","author":"Fischer","year":"2016","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.jbc.2024.107725_bib28","doi-asserted-by":"crossref","first-page":"3491","DOI":"10.1038\/s41467-018-05924-9","article-title":"TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration","volume":"9","author":"Yoon","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.jbc.2024.107725_bib29","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/s41594-022-00910-8","article-title":"Towards a structurally resolved human protein interaction network","volume":"30","author":"Burke","year":"2023","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.jbc.2024.107725_bib30","first-page":"17","article-title":"Protein-protein interaction networks (PPI) and complex diseases","volume":"7","author":"Safari-Alighiarloo","year":"2014","journal-title":"Gastroenterol. Hepatol. Bed Bench."},{"key":"10.1016\/j.jbc.2024.107725_bib31","doi-asserted-by":"crossref","first-page":"9578","DOI":"10.1073\/pnas.88.21.9578","article-title":"The two-hybrid system: a method to identify and clone genes for proteins that interact with a protein of interest","volume":"88","author":"Chien","year":"1991","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jbc.2024.107725_bib32","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/340245a0","article-title":"A\u00a0novel genetic system to detect protein-protein interactions","volume":"340","author":"Fields","year":"1989","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2024.107725_bib33","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/j.bbrc.2004.03.107","article-title":"KIBRA is a novel substrate for protein kinase Czeta","volume":"317","author":"Buther","year":"2004","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.jbc.2024.107725_bib34","doi-asserted-by":"crossref","first-page":"e272","DOI":"10.1038\/tp.2013.49","article-title":"Common exonic missense variants in the C2 domain of the human KIBRA protein modify lipid binding and cognitive performance","volume":"3","author":"Duning","year":"2013","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.jbc.2024.107725_bib35","doi-asserted-by":"crossref","first-page":"14218","DOI":"10.1523\/JNEUROSCI.3292-11.2011","article-title":"KIBRA polymorphism is related to enhanced memory and elevated hippocampal processing","volume":"31","author":"Kauppi","year":"2011","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.jbc.2024.107725_bib36","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1016\/j.neuron.2011.08.017","article-title":"Regulation of AMPA receptor function by the human memory-associated gene KIBRA","volume":"71","author":"Makuch","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.jbc.2024.107725_bib37","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1126\/science.1129837","article-title":"Common Kibra alleles are associated with human memory performance","volume":"314","author":"Papassotiropoulos","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.jbc.2024.107725_bib38","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2016.03.005","article-title":"Acetylated Tau obstructs KIBRA-mediated signaling in synaptic plasticity and promotes Tauopathy-related memory loss","volume":"90","author":"Tracy","year":"2016","journal-title":"Neuron"},{"key":"10.1016\/j.jbc.2024.107725_bib39","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1111\/jnc.12480","article-title":"KIBRA (KIdney\/BRAin protein) regulates learning and memory and stabilizes Protein kinase Mzeta","volume":"128","author":"Vogt-Eisele","year":"2014","journal-title":"J.\u00a0Neurochem."},{"key":"10.1016\/j.jbc.2024.107725_bib40","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/j.neuron.2017.04.024","article-title":"De novo coding variants are strongly associated with tourette disorder","volume":"94","author":"Willsey","year":"2017","journal-title":"Neuron"},{"key":"10.1016\/j.jbc.2024.107725_bib41","doi-asserted-by":"crossref","first-page":"3191","DOI":"10.1016\/j.celrep.2018.02.095","article-title":"KIBRA (WWC1) is a metastasis suppressor gene affected by chromosome 5q loss in triple-negative breast cancer","volume":"22","author":"Knight","year":"2018","journal-title":"Cell Rep."},{"key":"10.1016\/j.jbc.2024.107725_bib42","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/j.devcel.2017.02.004","article-title":"Kibra and merlin activate the Hippo pathway spatially distinct from and independent of expanded","volume":"40","author":"Su","year":"2017","journal-title":"Dev. Cell"},{"key":"10.1016\/j.jbc.2024.107725_bib43","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1038\/ncb2303","article-title":"The Hippo pathway in organ size control, tissue regeneration and stem cell self-renewal","volume":"13","author":"Zhao","year":"2011","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.jbc.2024.107725_bib44","doi-asserted-by":"crossref","first-page":"1639","DOI":"10.1038\/s41467-019-09720-x","article-title":"KIBRA controls exosome secretion via inhibiting the proteasomal degradation of Rab27a","volume":"10","author":"Song","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.jbc.2024.107725_bib45","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1016\/j.cellsig.2014.02.023","article-title":"KIBRA: in the brain and beyond","volume":"26","author":"Zhang","year":"2014","journal-title":"Cell Signal."},{"key":"10.1016\/j.jbc.2024.107725_bib46","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1681\/ASN.2007080916","article-title":"KIBRA modulates directional migration of podocytes","volume":"19","author":"Duning","year":"2008","journal-title":"J.\u00a0Am. Soc. Nephrol."},{"key":"10.1016\/j.jbc.2024.107725_bib47","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1016\/j.celrep.2019.01.097","article-title":"Kibra modulates learning and memory via binding to dendrin","volume":"26","author":"Ji","year":"2019","journal-title":"Cell Rep."},{"key":"10.1016\/j.jbc.2024.107725_bib48","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1016\/S0006-291X(02)02945-5","article-title":"Characterization of KIBRA, a novel WW domain-containing protein","volume":"300","author":"Kremerskothen","year":"2003","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.jbc.2024.107725_bib49","doi-asserted-by":"crossref","first-page":"19092","DOI":"10.1074\/jbc.M600021200","article-title":"Essential role of KIBRA in co-activator function of dynein light chain 1 in mammalian cells","volume":"281","author":"Rayala","year":"2006","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.jbc.2024.107725_bib50","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1126\/science.abn6919","article-title":"Phylogenomic analyses provide insights into primate evolution","volume":"380","author":"Shao","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.jbc.2024.107725_bib51","doi-asserted-by":"crossref","first-page":"2319","DOI":"10.1093\/brain\/awz175","article-title":"TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model","volume":"142","author":"Luthy","year":"2019","journal-title":"Brain"},{"key":"10.1016\/j.jbc.2024.107725_bib52","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1091\/mbc.e16-08-0583","article-title":"Harnessing molecular motors for nanoscale pulldown in live cells","volume":"28","author":"Bird","year":"2017","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.jbc.2024.107725_bib53","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1016\/j.neuroscience.2008.06.054","article-title":"Temporal-spatial expression and novel biochemical properties of the memory-related protein KIBRA","volume":"155","author":"Johannsen","year":"2008","journal-title":"Neuroscience"},{"key":"10.1016\/j.jbc.2024.107725_bib54","doi-asserted-by":"crossref","first-page":"9335","DOI":"10.1074\/jbc.RA118.002279","article-title":"Distinctive phosphoinositide- and Ca(2+)-binding properties of normal and cognitive performance-linked variant forms of KIBRA C2 domain","volume":"293","author":"Posner","year":"2018","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.jbc.2024.107725_bib55","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0968-0004(03)00057-4","article-title":"Disulfide bonds as switches for protein function","volume":"28","author":"Hogg","year":"2003","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.jbc.2024.107725_bib56","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.tcb.2023.07.009","article-title":"Disulfidptosis: disulfide stress-induced cell death","volume":"34","author":"Liu","year":"2024","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.jbc.2024.107725_bib57","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1101\/gr.108563.110","article-title":"Clcn4-2 genomic structure differs between the X locus in Mus spretus and the autosomal locus in Mus musculus: AT motif enrichment on the X","volume":"21","author":"Nguyen","year":"2011","journal-title":"Genome Res."},{"key":"10.1016\/j.jbc.2024.107725_bib58","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1093\/molbev\/msu115","article-title":"Evolutionary and molecular facts link the WWC protein family to Hippo signaling","volume":"31","author":"Wennmann","year":"2014","journal-title":"Mol. Biol. Evol."},{"key":"10.1016\/j.jbc.2024.107725_bib59","doi-asserted-by":"crossref","first-page":"e63","DOI":"10.1002\/cpns.63","article-title":"Detection and quantification of multiple RNA sequences using emerging ultrasensitive fluorescent in situ hybridization techniques","volume":"87","author":"Erben","year":"2019","journal-title":"Curr. Protoc. Neurosci."},{"key":"10.1016\/j.jbc.2024.107725_bib60","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.jmoldx.2011.08.002","article-title":"RNAscope: a novel in situ RNA analysis platform for formalin-fixed, paraffin-embedded tissues","volume":"14","author":"Wang","year":"2012","journal-title":"J.\u00a0Mol. Diagn."},{"key":"10.1016\/j.jbc.2024.107725_bib61","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/nature05453","article-title":"Genome-wide atlas of gene expression in the adult mouse brain","volume":"445","author":"Lein","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2024.107725_bib62","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/j.cell.2018.06.035","article-title":"A\u00a0suite of transgenic driver and reporter mouse lines with enhanced brain-cell-type targeting and functionality","volume":"174","author":"Daigle","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.jbc.2024.107725_bib63","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/s41586-019-1716-z","article-title":"Hierarchical organization of cortical and thalamic connectivity","volume":"575","author":"Harris","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2024.107725_bib64","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1038\/nature13186","article-title":"A\u00a0mesoscale connectome of the mouse brain","volume":"508","author":"Oh","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2024.107725_bib65","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/jmr.647","article-title":"IMGT standardized criteria for statistical analysis of immunoglobulin V-REGION amino acid properties","volume":"17","author":"Pommie","year":"2004","journal-title":"J.\u00a0Mol. Recognit."},{"key":"10.1016\/j.jbc.2024.107725_bib66","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2024.107725_bib67","doi-asserted-by":"crossref","first-page":"D439","DOI":"10.1093\/nar\/gkab1061","article-title":"AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models","volume":"50","author":"Varadi","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.jbc.2024.107725_bib68","doi-asserted-by":"crossref","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.jbc.2024.107725_bib69","doi-asserted-by":"crossref","first-page":"W314","DOI":"10.1093\/nar\/gku411","article-title":"DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach","volume":"42","author":"Pires","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.jbc.2024.107725_bib70","doi-asserted-by":"crossref","first-page":"1542","DOI":"10.3390\/cells12111542","article-title":"A\u00a0rapid Alkalinization factor-like peptide EaF82 impairs tapetum degeneration during pollen development through induced ATP deficiency","volume":"12","author":"Hung","year":"2023","journal-title":"Cells"},{"key":"10.1016\/j.jbc.2024.107725_bib71","doi-asserted-by":"crossref","DOI":"10.1016\/j.yexcr.2021.112613","article-title":"KIBRA connects Hippo signaling and cancer","volume":"403","author":"Swaroop","year":"2021","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.jbc.2024.107725_bib72","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.1086\/302876","article-title":"Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13","volume":"66","author":"Zara","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jbc.2024.107725_bib73","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1046\/j.1528-1157.2001.26701.x","article-title":"Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance","volume":"42","author":"de Falco","year":"2001","journal-title":"Epilepsia"},{"key":"10.1016\/j.jbc.2024.107725_bib74","first-page":"4","article-title":"KIBRA: a new gateway to learning and memory?","volume":"2","author":"Schneider","year":"2010","journal-title":"Front. Aging Neurosci."},{"key":"10.1016\/j.jbc.2024.107725_bib75","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/s12253-019-00660-x","article-title":"KIBRA team up with partners to promote breast cancer metastasis","volume":"26","author":"Singh","year":"2020","journal-title":"Pathol. Oncol. Res."},{"key":"10.1016\/j.jbc.2024.107725_bib76","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1101\/gr.2659105","article-title":"Protein interaction mapping: a Drosophila case study","volume":"15","author":"Formstecher","year":"2005","journal-title":"Genome Res."},{"key":"10.1016\/j.jbc.2024.107725_bib77","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/35051615","article-title":"The protein-protein interaction map of Helicobacter pylori","volume":"409","author":"Rain","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2024.107725_bib78","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/ng0797-277","article-title":"Toward a functional analysis of the yeast genome through exhaustive two-hybrid screens","volume":"16","author":"Fromont-Racine","year":"1997","journal-title":"Nat. Genet."}],"container-title":["Journal of Biological Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925824022269?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925824022269?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T06:14:18Z","timestamp":1778652858000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021925824022269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":78,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["S0021925824022269"],"URL":"https:\/\/doi.org\/10.1016\/j.jbc.2024.107725","relation":{},"ISSN":["0021-9258"],"issn-type":[{"value":"0021-9258","type":"print"}],"subject":[],"published":{"date-parts":[[2024,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants","name":"articletitle","label":"Article Title"},{"value":"Journal of Biological Chemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jbc.2024.107725","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier Inc on behalf of American Society for Biochemistry and Molecular Biology.","name":"copyright","label":"Copyright"}],"article-number":"107725"}}