{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T01:29:23Z","timestamp":1792632563806,"version":"4.5.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2001,1,1]],"date-time":"2001-01-01T00:00:00Z","timestamp":978307200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2001,1]]},"DOI":"10.1038\/83679","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T04:47:57Z","timestamp":1027658877000},"page":"117-120","source":"Crossref","is-referenced-by-count":574,"title":["Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease"],"prefix":"10.1038","volume":"27","author":[{"given":"Michael","family":"Brenner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne B.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Boespflug-Tanguy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Goldman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albee","family":"Messing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0101_117_CR1","first-page":"620","volume-title":"Pediatric Neuropathology","author":"S Duckett","year":"1995","unstructured":"Duckett, S. & Goldman, J.E. in Pediatric Neuropathology (ed. Duckett, S.) 620\u2013624 (Williams & Wilkins, Baltimore, 1995)."},{"key":"BFng0101_117_CR2","first-page":"701","volume-title":"Handbook of Clinical Neurology: Neurodystrophies and Neurolipidoses","author":"AB Johnson","year":"1996","unstructured":"Johnson, A.B. in Handbook of Clinical Neurology: Neurodystrophies and Neurolipidoses (ed. Moser, H.G.) 701\u2013710 (Elsevier, Amsterdam, 1996)."},{"key":"BFng0101_117_CR3","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1002\/aja.1001850228","volume":"185","author":"AB Johnson","year":"1989","unstructured":"Johnson, A.B. & Bettica, A. On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue. Am. J. Anat. 185, 335\u2013341 (1989).","journal-title":"Am. J. Anat."},{"key":"BFng0101_117_CR4","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/0092-8674(89)90173-6","volume":"57","author":"T Iwaki","year":"1989","unstructured":"Iwaki, T., Kume-Iwaki, A., Liem, R.K.H. & Goldman, J.E. \u03b1B-Crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain. Cell 57, 71 \u201378 (1989).","journal-title":"Cell"},{"key":"BFng0101_117_CR5","first-page":"391","volume":"152","author":"A Messing","year":"1998","unstructured":"Messing, A. et al. Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. Am. J. Pathol. 152, 391\u2013 398 (1998).","journal-title":"Am. J. Pathol."},{"key":"BFng0101_117_CR6","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1086\/302548","volume":"65","author":"PA Leegwater","year":"1999","unstructured":"Leegwater, P.A. et al. The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27. Am. J. Hum. Genet. 65 , 728\u2013734 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng0101_117_CR7","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1093\/hmg\/9.5.787","volume":"9","author":"CM Coffeen","year":"2000","unstructured":"Coffeen, C.M. et al. Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum. Mol. Genet. 9, 787\u2013793 (2000).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0101_117_CR8","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1016\/0169-328X(90)90078-R","volume":"7","author":"M Brenner","year":"1990","unstructured":"Brenner, M. et al. Characterization of human cDNA and genomic clones for glial fibrillary acidic protein. Mol. Brain Res. 7, 277\u2013286 (1990).","journal-title":"Mol. Brain Res."},{"key":"BFng0101_117_CR9","doi-asserted-by":"crossref","first-page":"18877","DOI":"10.1016\/S0021-9258(18)55145-0","volume":"266","author":"F Besnard","year":"1991","unstructured":"Besnard, F. et al. Multiple interacting sites regulate astrocyte-specific transcription of the human gene for glial fibrillary acidic protein. J. Biol. Chem. 266, 18877\u201318883 ( 1991).","journal-title":"J. Biol. Chem."},{"key":"BFng0101_117_CR10","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/BF00278187","volume":"78","author":"DN Cooper","year":"1988","unstructured":"Cooper, D.N. & Youssoufian, H. The CpG dinucleotide and human genetic disease. Hum. Genet. 78, 151\u2013 155 (1988).","journal-title":"Hum. Genet."},{"key":"BFng0101_117_CR11","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1146\/annurev.genet.30.1.197","volume":"30","author":"E Fuchs","year":"1996","unstructured":"Fuchs, E. The cytoskeleton and disease: genetic disorders of intermediate filaments . Annu. Rev. Genet. 30, 197\u2013 231 (1996).","journal-title":"Annu. Rev. Genet."},{"key":"BFng0101_117_CR12","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1038\/1300","volume":"19","author":"LG Goldfarb","year":"1998","unstructured":"Goldfarb, L.G. et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nature Genet. 19, 402\u2013403 (1998).","journal-title":"Nature Genet."},{"key":"BFng0101_117_CR13","doi-asserted-by":"publisher","first-page":"2191","DOI":"10.1093\/hmg\/8.12.2191","volume":"8","author":"G Sj\u00f4berg","year":"1999","unstructured":"Sj\u00f4berg, G. et al. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum. Mol. Genet. 8, 2191\u20132198 (1999).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0101_117_CR14","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/6799","volume":"21","author":"G Bonne","year":"1999","unstructured":"Bonne, G. et al. Mutations in the gene encoding lamin A\/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nature Genet. 21 , 285\u2013288 (1999).","journal-title":"Nature Genet."},{"key":"BFng0101_117_CR15","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.1016\/0092-8674(91)90051-Y","volume":"66","author":"PA Coulombe","year":"1991","unstructured":"Coulombe, P.A. et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66, 1301\u20131311 ( 1991).","journal-title":"Cell"},{"key":"BFng0101_117_CR16","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1046\/j.1365-2133.1999.02810.x","volume":"140","author":"AD Irvine","year":"1999","unstructured":"Irvine, A.D. & McLean, W.H.I. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br. J. Dermatol. 140, 815\u2013828 (1999).","journal-title":"Br. J. Dermatol."},{"key":"BFng0101_117_CR17","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/0896-6273(95)90238-4","volume":"14","author":"H Gomi","year":"1995","unstructured":"Gomi, H. et al. Mice devoid of the glial fibrillary acidic protein develop normally and are susceptible to scrapie prions. Neuron 14, 29\u201341 (1995).","journal-title":"Neuron"},{"key":"BFng0101_117_CR18","doi-asserted-by":"publisher","first-page":"1590","DOI":"10.1002\/j.1460-2075.1995.tb07147.x","volume":"14","author":"M Pekny","year":"1995","unstructured":"Pekny, M. et al. Mice lacking glial fibrillary acidic protein display astrocytes devoid of intermediate filaments but develop and reproduce normally. EMBO J. 14, 1590\u20131598 ( 1995).","journal-title":"EMBO J."},{"key":"BFng0101_117_CR19","doi-asserted-by":"publisher","first-page":"6361","DOI":"10.1073\/pnas.93.13.6361","volume":"93","author":"MA McCall","year":"1996","unstructured":"McCall, M.A. et al. Targeted deletion in astrocyte intermediate filament ( Gfap ) alters neuronal physiology. Proc. Natl. Acad. Sci. USA 93, 6361\u20136366 ( 1996).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng0101_117_CR20","first-page":"251","volume":"152","author":"W Liedtke","year":"1998","unstructured":"Liedtke, W., Edelmann, W., Chiu, F.-C., Kucherlapati, R. & Raine, C.S. Experimental autoimmune encephalomyelitis in mice lacking glial fibrillary acidic protein is characterized by a more severe clinical course and an infiltrative central nervous system lesion. Am. J. Pathol. 152, 251\u2013259 (1998).","journal-title":"Am. J. Pathol."},{"key":"BFng0101_117_CR21","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1136\/jnnp.56.9.977","volume":"56","author":"RS Howard","year":"1993","unstructured":"Howard, R.S. et al. A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation. J. Neurol. Neurosurg. Psychiatry 56, 977\u2013 981 (1993).","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"BFng0101_117_CR22","doi-asserted-by":"publisher","first-page":"2266","DOI":"10.1212\/WNL.45.12.2266","volume":"45","author":"JD Schwankhaus","year":"1995","unstructured":"Schwankhaus, J.D., Parisi, J.E., Gulledge, W.R., Chin, L. & Currier, R.D. Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia . Neurology 45, 2266\u20132271 (1995).","journal-title":"Neurology"},{"key":"BFng0101_117_CR23","first-page":"111","volume":"23","author":"W Rosenthal","year":"1898","unstructured":"Rosenthal, W. \u00dcber eine eigenth\u00fcmliche, mit syringomyelie complicirte geschwulst des r\u00fcckenmarks. Bietr. Pathol. Anat. 23, 111\u2013143 (1898).","journal-title":"Bietr. Pathol. Anat."},{"key":"BFng0101_117_CR24","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1097\/00005072-197010000-00002","volume":"29","author":"RM Herndon","year":"1970","unstructured":"Herndon, R.M., Rubinstein, L.J., Freeman, J.M. & Mathieson, G. Light and electron microscopic observations on Rosenthal fibers in Alexander's disease and in multiple sclerosis. J. Neuropathol. Exp. Neurol. 29, 524\u2013551 ( 1970).","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"BFng0101_117_CR25","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1038\/6772","volume":"21","author":"M Schuelke","year":"1999","unstructured":"Schuelke, M. et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nature Genet. 21, 260\u2013261 (1999).","journal-title":"Nature Genet."},{"key":"BFng0101_117_CR26","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/0304-3940(92)90689-5","volume":"140","author":"A Iwaki","year":"1992","unstructured":"Iwaki, A. et al. Accumulation of \u03b1 B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5\u2032-flanking and coding sequence of the genomic DNA. Neurosci. Lett. 140, 89\u201392 (1992).","journal-title":"Neurosci. Lett."},{"key":"BFng0101_117_CR27","first-page":"31","volume":"13","author":"EA Klein","year":"1994","unstructured":"Klein, E.A. & Anzil, A.P. Prominent white matter cavitation in an infant with Alexander's disease. Clin. Neuropathol. 13, 31\u201338 (1994).","journal-title":"Clin. Neuropathol."},{"key":"BFng0101_117_CR28","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1080\/15513819609169294","volume":"16","author":"EAP Reichard","year":"1996","unstructured":"Reichard, E.A.P., Ball, W.S. & Bove, K.E. Alexander disease\u2014a case report and review of the literature. Pediatr. Pathol. Lab. Med. 16, 327\u2013343 (1996).","journal-title":"Pediatr. Pathol. Lab. Med."},{"key":"BFng0101_117_CR29","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1523\/JNEUROSCI.14-03-01030.1994","volume":"14","author":"M Brenner","year":"1994","unstructured":"Brenner, M., Kisseberth, W.C., Su, Y., Besnard, F. & Messing, A. GFAP promoter directs astrocyte-specific expression in transgenic mice. J. Neurosci. 14, 1030 \u20131037 (1994).","journal-title":"J. Neurosci."},{"key":"BFng0101_117_CR30","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1006\/geno.1998.5360","volume":"51","author":"A Isaacs","year":"1998","unstructured":"Isaacs, A., Baker, M. & Hutton, M. Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with Parkinsonism linked to chromosome 17. Genomics 51, 152\u2013154 (1998).","journal-title":"Genomics"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0101_117.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0101_117","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0101_117.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:15:35Z","timestamp":1684426535000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0101_117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,1]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2001,1]]}},"alternative-id":["BFng0101_117"],"URL":"https:\/\/doi.org\/10.1038\/83679","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,1]]}}}