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Several recent studies describe disruptive mutations in the minus-end-directed microtubule motor cytoplasmic dynein that are directly linked to human motor neuropathies, such as SMA (spinal muscular atrophy) and axonal CMT (Charcot\u2013Marie\u2013Tooth) disease or malformations of cortical development, including lissencephaly, pachygyria and polymicrogyria. In addition, genetic defects associated with these and other neurological disorders have been found in multifunctional adaptors that regulate dynein function, including the dynactin subunit p150Glued, BICD2 (Bicaudal D2), Lis-1 (lissencephaly 1) and NDE1 (nuclear distribution protein E). In the present paper we provide an overview of the disease-causing mutations in dynein motors and regulatory proteins that lead to a broad phenotypic spectrum extending from peripheral neuropathies to cerebral malformations.<\/jats:p>","DOI":"10.1042\/bst20130188","type":"journal-article","created":{"date-parts":[[2015,8,11]],"date-time":"2015-08-11T12:49:03Z","timestamp":1439297343000},"page":"1605-1612","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":105,"title":["Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases"],"prefix":"10.1042","volume":"41","author":[{"given":"Joanna","family":"Lipka","sequence":"first","affiliation":[{"name":"Division of Cell Biology, Department of Biology, Faculty of Science, Utrecht University, 3584 CH Utrecht, The Netherlands"},{"name":"International Institute of Molecular and Cell Biology, 02-109 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijn","family":"Kuijpers","sequence":"additional","affiliation":[{"name":"Division of Cell Biology, Department of Biology, Faculty of Science, Utrecht University, 3584 CH Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Jaworski","sequence":"additional","affiliation":[{"name":"International Institute of Molecular and Cell Biology, 02-109 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casper\u00a0C.","family":"Hoogenraad","sequence":"additional","affiliation":[{"name":"Division of Cell Biology, Department of Biology, Faculty of Science, Utrecht University, 3584 CH Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2013,11,20]]},"reference":[{"key":"2021111818183018600_B1","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/S0092-8674(03)00111-9","article-title":"The molecular motor toolbox for intracellular transport","volume":"112","author":"Vale","year":"2003","journal-title":"Cell"},{"key":"2021111818183018600_B2","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1016\/j.neuron.2010.09.039","article-title":"Molecular motors in neurons: transport mechanisms and roles in brain function, development, and disease","volume":"68","author":"Hirokawa","year":"2010","journal-title":"Neuron"},{"key":"2021111818183018600_B3","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1146\/annurev.neuro.31.061307.090711","article-title":"Role of axonal transport in neurodegenerative diseases","volume":"31","author":"De Vos","year":"2008","journal-title":"Annu. 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