Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases

Biochemical Society Transactions

Volumn 41, Issue 6, 2013, Pages 1605-1612

  Lipka, Joanna ^a,b   Kuijpers, Marijn ^a   Jaworski, Jacek ^b   Hoogenraad, Casper C ^a  

^a UTRECHT UNIVERSITY   (Netherlands)

^b INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Poland)

Author keywords

Bicaudal D2 (BICD2); Dynactin; Dynein; Lissencephaly 1 (Lis 1); Neurodegenerative disease; Nuclear distribution protein E (NDE1); Nuclear distribution protein E like (NDEL1)

Indexed keywords

BICAUDAL D2; CYTOPLASMIC DYNEIN; DYNACTIN; DYNACTIN SUBUNIT P150; DYNEIN CYTOPLASMIC HEAVY CHAIN 1; LISSENCEPHALY 1; NUCLEAR DISTRIBUTION PROTEIN E; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

AGYRIA; AUTOSOMAL DOMINANT INHERITANCE; CONFERENCE PAPER; CORTICAL DYSPLASIA; DEGENERATIVE DISEASE; GAIN OF FUNCTION MUTATION; GENE MUTATION; HEAVY CHAIN; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTRACELLULAR TRANSPORT; MACROGYRIA; MICROGYRIA; MICROTUBULE; MISSENSE MUTATION; MOTONEURON; NERVE CELL; NONHUMAN; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; RETROGRADE NERVE FIBER TRANSPORT; SPINAL MUSCULAR ATROPHY;

ANIMALS; CYTOPLASMIC DYNEINS; HUMANS; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; NEURODEGENERATIVE DISEASES;

EID: 84887861973     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST20130188     Document Type: Conference Paper

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