{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T01:35:22Z","timestamp":1776476122549,"version":"3.51.2"},"reference-count":27,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2007,7,1]],"date-time":"2007-07-01T00:00:00Z","timestamp":1183248000000},"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":2210,"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":[[2007,7]]},"DOI":"10.1086\/518770","type":"journal-article","created":{"date-parts":[[2007,6,6]],"date-time":"2007-06-06T19:39:28Z","timestamp":1181158768000},"page":"158-164","source":"Crossref","is-referenced-by-count":111,"title":["Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin\/FGD4"],"prefix":"10.1016","volume":"81","author":[{"given":"Claudia","family":"Stendel","sequence":"first","affiliation":[]},{"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[]},{"given":"Tine","family":"Deconinck","sequence":"additional","affiliation":[]},{"given":"Jorge","family":"Pereira","sequence":"additional","affiliation":[]},{"given":"Fran\u00e7ois","family":"Castagner","sequence":"additional","affiliation":[]},{"given":"Axel","family":"Niemann","sequence":"additional","affiliation":[]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[]},{"given":"Rudolf","family":"Korinthenberg","sequence":"additional","affiliation":[]},{"given":"Uwe-Peter","family":"Ketelsen","sequence":"additional","affiliation":[]},{"given":"Esra","family":"Battaloglu","sequence":"additional","affiliation":[]},{"given":"Yesim","family":"Parman","sequence":"additional","affiliation":[]},{"given":"Garth","family":"Nicholson","sequence":"additional","affiliation":[]},{"given":"Robert","family":"Ouvrier","sequence":"additional","affiliation":[]},{"given":"J\u00fcrgen","family":"Seeger","sequence":"additional","affiliation":[]},{"given":"Peter","family":"De Jonghe","sequence":"additional","affiliation":[]},{"given":"Joachim","family":"Weis","sequence":"additional","affiliation":[]},{"given":"Alexander","family":"Kr\u00fcttgen","sequence":"additional","affiliation":[]},{"given":"Sabine","family":"Rudnik-Sch\u00f6neborn","sequence":"additional","affiliation":[]},{"given":"Carsten","family":"Bergmann","sequence":"additional","affiliation":[]},{"given":"Ueli","family":"Suter","sequence":"additional","affiliation":[]},{"given":"Klaus","family":"Zerres","sequence":"additional","affiliation":[]},{"given":"Vincent","family":"Timmerman","sequence":"additional","affiliation":[]},{"given":"Jo\u00e3o B.","family":"Relvas","sequence":"additional","affiliation":[]},{"given":"Jan","family":"Senderek","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1086\/518770_bib12","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and clinical aspects of Charcot-Marie-Tooth disease","volume":"6","author":"Skre","year":"1974","journal-title":"Clin Genet"},{"key":"10.1086\/518770_bib13","series-title":"Peripheral neuropathy","first-page":"1094","article-title":"Hereditary motor and sensory neuropathies","author":"Dyck","year":"1993"},{"key":"10.1086\/518770_bib14","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/glia.20386","article-title":"Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease)","volume":"54","author":"Berger","year":"2006","journal-title":"Glia"},{"key":"10.1086\/518770_bib15","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1385\/NMM:8:1-2:217","article-title":"Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease","volume":"8","author":"Niemann","year":"2006","journal-title":"Neuromolecular Med"},{"key":"10.1086\/518770_bib16","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/nrn1196","article-title":"Disease mechanisms in inherited neuropathies","volume":"4","author":"Suter","year":"2003","journal-title":"Nat Rev Neurosci"},{"key":"10.1086\/518770_bib17","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nrn1746","article-title":"The origin and development of glial cells in peripheral nerves","volume":"6","author":"Jessen","year":"2005","journal-title":"Nat Rev Neurosci"},{"key":"10.1086\/518770_bib18","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1515\/BC.2002.026","article-title":"The early life of a Schwann cell","volume":"383","author":"Lobsiger","year":"2002","journal-title":"Biol Chem"},{"key":"10.1086\/518770_bib19","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1038\/nature01148","article-title":"Rho GTPases in cell biology","volume":"420","author":"Etienne-Manneville","year":"2002","journal-title":"Nature"},{"key":"10.1086\/518770_bib20","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1038\/366643a0","article-title":"Proteins regulating Ras and its relatives","volume":"366","author":"Boguski","year":"1993","journal-title":"Nature"},{"key":"10.1086\/518770_bib21","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1086\/378159","article-title":"Slowed conduction and thin myelination of peripheral nerves associated with mutant Rho guanine-nucleotide exchange factor 10","volume":"73","author":"Verhoeven","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/518770_bib22","doi-asserted-by":"crossref","first-page":"18697","DOI":"10.1074\/jbc.273.30.18697","article-title":"Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinase","volume":"273","author":"Obaishi","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1086\/518770_bib23","doi-asserted-by":"crossref","first-page":"25197","DOI":"10.1074\/jbc.274.36.25197","article-title":"Association of frabin with the actin cytoskeleton is essential for microspike formation through activation of Cdc42 small G protein","volume":"274","author":"Umikawa","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/518770_bib24","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1136\/jmg.2004.024364","article-title":"Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11","volume":"42","author":"De Sandre-Giovannoli","year":"2005","journal-title":"J Med Genet"},{"key":"10.1086\/518770_bib25","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1046\/j.1365-2443.2000.00349.x","article-title":"Importance of spatial activation of Cdc42 and rac small G proteins by frabin for microspike formation in MDCK cells","volume":"5","author":"Yasuda","year":"2000","journal-title":"Genes Cells"},{"key":"10.1086\/518770_bib26","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1046\/j.1365-2443.2002.00524.x","article-title":"Association of frabin with specific actin and membrane structures","volume":"7","author":"Kim","year":"2002","journal-title":"Genes Cells"},{"key":"10.1086\/518770_bib27","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1111\/j.1365-2443.2003.00695.x","article-title":"Involvement of Cdc42 and Rac small G proteins in invadopodia formation of RPMI7951 cells","volume":"8","author":"Nakahara","year":"2003","journal-title":"Genes Cells"},{"key":"10.1086\/518770_bib28","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/0092-8674(94)90552-5","article-title":"Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho\/Rac guanine nucleotide exchange factor","volume":"79","author":"Pasteris","year":"1994","journal-title":"Cell"},{"key":"10.1086\/518770_bib29","doi-asserted-by":"crossref","first-page":"33169","DOI":"10.1074\/jbc.271.52.33169","article-title":"The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor","volume":"271","author":"Zheng","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1086\/518770_bib30","doi-asserted-by":"crossref","first-page":"10110","DOI":"10.1523\/JNEUROSCI.2158-06.2006","article-title":"Cdc42 and Rac1 signaling are both required for and act synergistically in the correct formation of myelin sheaths in the CNS","volume":"26","author":"Thurnherr","year":"2006","journal-title":"J Neurosci"},{"key":"10.1086\/518770_bib31","doi-asserted-by":"crossref","first-page":"12177","DOI":"10.1073\/pnas.2132732100","article-title":"Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module","volume":"100","author":"Berger","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/518770_bib32","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1093\/hmg\/11.13.1569","article-title":"Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1","volume":"11","author":"Berger","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1086\/518770_bib33","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S0014-5793(03)00437-X","article-title":"Phosphoinositide signaling disorders in human diseases","volume":"546","author":"Pendaries","year":"2003","journal-title":"FEBS Lett"},{"key":"10.1086\/518770_bib34","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1093\/hmg\/ddi473","article-title":"Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13\/set-binding factor-2","volume":"15","author":"Berger","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1086\/518770_bib35","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1126\/science.279.5350.558","article-title":"Role of substrates and products of PI 3-kinase in regulating activation of Rac-related guanosine triphosphatases by Vav","volume":"279","author":"Han","year":"1998","journal-title":"Science"},{"key":"10.1086\/518770_bib36","doi-asserted-by":"crossref","first-page":"19524","DOI":"10.1074\/jbc.M009742200","article-title":"Modulation of oncogenic DBL activity by phosphoinositol phosphate binding to pleckstrin homology domain","volume":"276","author":"Russo","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1086\/518770_bib37","doi-asserted-by":"crossref","first-page":"45868","DOI":"10.1074\/jbc.M106731200","article-title":"Quantitative analysis of the effect of phosphoinositide interactions on the function of Dbl family proteins","volume":"276","author":"Snyder","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1086\/518770_bib38","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1385\/NMM:8:1-2:75","article-title":"Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease","volume":"8","author":"Dubourg","year":"2006","journal-title":"Neuromolecular Med"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707628250?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707628250?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,6]],"date-time":"2019-01-06T21:51:31Z","timestamp":1546811491000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707628250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["S0002929707628250"],"URL":"https:\/\/doi.org\/10.1086\/518770","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2007,7]]}}}