{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:30:38Z","timestamp":1791351038264,"version":"4.3.1"},"reference-count":27,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2002,11,1]],"date-time":"2002-11-01T00:00:00Z","timestamp":1036108800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3913,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2002,11]]},"DOI":"10.1086\/344210","type":"journal-article","created":{"date-parts":[[2002,11,4]],"date-time":"2002-11-04T18:39:54Z","timestamp":1036435194000},"page":"1189-1194","source":"Crossref","is-referenced-by-count":476,"title":["A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)"],"prefix":"10.1016","volume":"71","author":[{"given":"Evan","family":"Reid","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Kloos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Ashley-Koch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lori","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Bevan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid K.","family":"Svenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felicia Lennon","family":"Graham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry C.","family":"Gaskell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Dearlove","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret A.","family":"Pericak-Vance","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David C.","family":"Rubinsztein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas A.","family":"Marchuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/344210_bib4","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s100480000098","article-title":"Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia","volume":"3","author":"Ashley-Koch","year":"2001","journal-title":"Neurogenetics"},{"key":"10.1086\/344210_bib5","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1093\/hmg\/11.2.153","article-title":"Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics","volume":"11","author":"Errico","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1086\/344210_bib6","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/ana.10258","article-title":"Hereditary spastic paraplegia: the pace quickens","volume":"51","author":"Fink","year":"2002","journal-title":"Annals of Neurology"},{"key":"10.1086\/344210_bib7","doi-asserted-by":"crossref","first-page":"6999","DOI":"10.1073\/pnas.111145298","article-title":"Kinesin molecular motors: transport pathways, receptors, and human disease","volume":"98","author":"Goldstein","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/344210_bib8","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1146\/annurev.neuro.23.1.39","article-title":"Microtubule-based transport systems in neurons: the roles of kinesins and dynamins","volume":"23","author":"Goldstein","year":"2000","journal-title":"Annu Rev Neurosci"},{"key":"10.1086\/344210_bib9","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/0092-8674(91)90391-B","article-title":"Kinesin-related gene unc-104 is required for axonal transport of synaptic vesicles in C. elegans","volume":"65","author":"Hall","year":"1991","journal-title":"Cell"},{"key":"10.1086\/344210_bib10","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/15472","article-title":"Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia","volume":"23","author":"Hazan","year":"1999","journal-title":"Nat Genet"},{"key":"10.1086\/344210_bib11","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1126\/science.279.5350.519","article-title":"Kinesin and dynein superfamily proteins and the mechanism of organelle transport","volume":"279","author":"Hirokawa","year":"1998","journal-title":"Science"},{"key":"10.1086\/344210_bib12","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1093\/genetics\/135.1.35","article-title":"Loss of function of Saccharomyces cerevisiae kinesin-related CIN8 and KIP1 is suppressed by KAR3 motor domain mutations","volume":"135","author":"Hoyt","year":"1993","journal-title":"Genetics"},{"key":"10.1086\/344210_bib13","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1093\/genetics\/144.3.1075","article-title":"Kinesin mutations cause motor neuron disease phenotypes by disrupting fast axonal transport in Drosophila","volume":"144","author":"Hurd","year":"1996","journal-title":"Genetics"},{"key":"10.1086\/344210_bib14","doi-asserted-by":"crossref","first-page":"6374","DOI":"10.1523\/JNEUROSCI.20-17-06374.2000","article-title":"KIF5C, a novel neuronal kinesin enriched in motor neurons","volume":"20","author":"Kanai","year":"2000","journal-title":"J Neurosci"},{"key":"10.1086\/344210_bib15","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1136\/jnnp.69.2.150","article-title":"Hereditary spastic paraparesis: a review of new developments","volume":"69","author":"McDermott","year":"2000","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/344210_bib16","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/ng937","article-title":"SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia","volume":"31","author":"Patel","year":"2002","journal-title":"Nat Genet"},{"key":"10.1086\/344210_bib17","doi-asserted-by":"crossref","first-page":"9181","DOI":"10.1073\/pnas.90.19.9181","article-title":"Cloning by insertional mutagenesis of a cDNA encoding Caenorhabditis elegans kinesin heavy chain","volume":"90","author":"Patel","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/344210_bib18","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1007\/s004150050503","article-title":"The hereditary spastic paraplegias","volume":"246","author":"Reid","year":"1999","journal-title":"J Neurol"},{"key":"10.1086\/344210_bib19","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1086\/302555","article-title":"A new locus for autosomal dominant \u201cpure\u201d hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity","volume":"65","author":"Reid","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/344210_bib20","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1136\/jmg.38.1.65","article-title":"The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate","volume":"38","author":"Reid","year":"2001","journal-title":"J Med Genet"},{"key":"10.1086\/344210_bib21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1046\/j.1432-1327.1999.00341.x","article-title":"Motor proteins of the kinesin family: structures, variations, and nucleotide binding sites","volume":"262","author":"Sack","year":"1999","journal-title":"Eur J Biochem"},{"key":"10.1086\/344210_bib22","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1016\/0092-8674(91)90264-Y","article-title":"Kinesin heavy chain is essential for viability and neuromuscular functions in Drosophila, but mutants show no defects in mitosis","volume":"64","author":"Saxton","year":"1991","journal-title":"Cell"},{"key":"10.1086\/344210_bib23","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1038\/25153","article-title":"Decoupling of nucleotide- and microtubule-binding sites in a kinesin mutant","volume":"396","author":"Song","year":"1998","journal-title":"Nature"},{"key":"10.1086\/344210_bib24","doi-asserted-by":"crossref","first-page":"6213","DOI":"10.1093\/emboj\/20.22.6213","article-title":"Structure of a fast kinesin: implications for ATPase mechanism and interactions with microtubules","volume":"20","author":"Song","year":"2001","journal-title":"EMBO J"},{"key":"10.1086\/344210_bib25","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1016\/S0092-8674(00)81459-2","article-title":"Targeted disruption of mouse conventional kinesin heavy chain, kif5B, results in abnormal perinuclear clustering of mitochondria","volume":"93","author":"Tanaka","year":"1998","journal-title":"Cell"},{"key":"10.1086\/344210_bib26","doi-asserted-by":"crossref","first-page":"4673","DOI":"10.1093\/nar\/22.22.4673","article-title":"CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice","volume":"22","author":"Thompson","year":"1994","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/344210_bib27","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmg.31.2.89","article-title":"The molecular basis of genetic dominance","volume":"31","author":"Wilkie","year":"1994","journal-title":"J Med Genet"},{"key":"10.1086\/344210_bib28","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1006\/geno.1998.5427","article-title":"Chromosomal localization reveals three kinesin heavy chain genes in the mouse","volume":"52","author":"Xia","year":"1998","journal-title":"Genomics"},{"key":"10.1086\/344210_bib29","doi-asserted-by":"crossref","first-page":"2611","DOI":"10.1093\/emboj\/20.11.2611","article-title":"A structural pathway for activation of the kinesin motor ATPase","volume":"20","author":"Yun","year":"2001","journal-title":"EMBO J"},{"key":"10.1086\/344210_bib30","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/S0092-8674(01)00363-4","article-title":"Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B\u03b2","volume":"105","author":"Zhao","year":"2001","journal-title":"Cell"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707604121?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707604121?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,30]],"date-time":"2021-05-30T01:03:54Z","timestamp":1622336634000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707604121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,11]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,11]]}},"alternative-id":["S0002929707604121"],"URL":"https:\/\/doi.org\/10.1086\/344210","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,11]]}}}