期刊
BIOCHEMICAL SOCIETY TRANSACTIONS
卷 41, 期 -, 页码 1605-1612出版社
PORTLAND PRESS LTD
DOI: 10.1042/BST20130188
关键词
Bicaudal D2 (BICD2); dynactin; dynein; lissencephaly 1 (Lis-1); neurodegenerative disease; nuclear distribution protein E (NDE1); nuclear distribution protein E-like (NDEL1)
资金
- International PhD Projects Programme of the Foundation for Polish Science (studies of nucleic acids and proteins: from basic to applied research)
- European Union Regional Development Fund
- Netherlands Organization for Scientific Research [NWO-ALW-VICI]
- Netherlands Organization for Scientific Research [NWO-CW-ECHO]
- Netherlands Organization for Health Research and Development [ZonMW-VIDI]
- Netherlands Organization for Health Research and Development [ZonMW-TOP]
- European Molecular Biology Organization Young Investigators Program [EMBO-YIP]
- ERA-NET [NEURON/06/2011]
- NCBiR
Neurons are highly specialized for the processing and transmission of electrical signals and use cytoskeleton-based motor proteins to transport different vesicles and cellular materials. Abnormalities in intracellular transport are thought to be a critical factor in the degeneration and death of neurons in both the central and peripheral nervous systems. 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-Marie-Tooth) 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 p150(Glued), 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.
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