Nuclear distribution protein nudE homolog 1 is a protein that in humans is encoded by the NDE1 gene.567
Clinical significance
Mutations in NDE1 can cause severe and often fatal defects in fetal brain development.89
References
References
- ENSG00000275911 GRCh38: Ensembl release 89: ENSG00000072864, ENSG00000275911 – Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000022678 – Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Kitagawa M, Umezu M, Aoki J, Koizumi H, Arai H, Inoue K (Sep 2000). "Direct association of LIS1, the lissencephaly gene product, with a mammalian homologue of a fungal nuclear distribution protein, rNUDE". FEBS Lett. 479 (1–2): 57–62. doi:10.1016/S0014-5793(00)01856-1. PMID 10940388.
- Meyer G, Perez-Garcia CG, Gleeson JG (Nov 2002). "Selective expression of doublecortin and LIS1 in developing human cortex suggests unique modes of neuronal movement". Cereb Cortex. 12 (12): 1225–36. doi:10.1093/cercor/12.12.1225. PMID 12427674.
- "Entrez Gene: NDE1 nudE nuclear distribution gene E homolog 1 (A. nidulans)".
- "OMIM Entry - # 614019 - LISSENCEPHALY 4; LIS4". omim.org. Retrieved 2019-12-10.
- "OMIM Entry - # 605013 - MICROHYDRANENCEPHALY; MHAC". omim.org. Retrieved 2015-09-26.
Further reading
Further reading
- Feng Y, Olson EC, Stukenberg PT, et al. (2001). "LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome". Neuron. 28 (3): 665–79. doi:10.1016/S0896-6273(00)00145-8. PMID 11163258.
- Türeci O, Sahin U, Koslowski M, et al. (2002). "A novel tumour associated leucine zipper protein targeting to sites of gene transcription and splicing". Oncogene. 21 (24): 3879–88. doi:10.1038/sj.onc.1205481. PMID 12032826. S2CID 21794594.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Yan X, Li F, Liang Y, et al. (2003). "Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle". Mol. Cell. Biol. 23 (4): 1239–50. doi:10.1128/MCB.23.4.1239-1250.2003. PMC 141156. PMID 12556484.
- Millar JK, Christie S, Porteous DJ (2004). "Yeast two-hybrid screens implicate DISC1 in brain development and function". Biochem. Biophys. Res. Commun. 311 (4): 1019–25. doi:10.1016/j.bbrc.2003.10.101. PMID 14623284.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–50. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101. doi:10.1038/nbt1046. PMID 15592455. S2CID 7200157.
- Martin J, Han C, Gordon LA, et al. (2005). "The sequence and analysis of duplication-rich human chromosome 16" (PDF). Nature. 432 (7020): 988–94. Bibcode:2004Natur.432..988M. doi:10.1038/nature03187. PMID 15616553. S2CID 4362044.
- Brandon NJ, Schurov I, Camargo LM, et al. (2005). "Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site". Mol. Cell. Neurosci. 28 (4): 613–24. doi:10.1016/j.mcn.2004.11.003. PMID 15797709. S2CID 28369678.
- Guo J, Yang Z, Song W, et al. (2006). "Nudel contributes to microtubule anchoring at the mother centriole and is involved in both dynein-dependent and -independent centrosomal protein assembly". Mol. Biol. Cell. 17 (2): 680–9. doi:10.1091/mbc.E05-04-0360. PMC 1356579. PMID 16291865.
- Hirohashi Y, Wang Q, Liu Q, et al. (2006). "Centrosomal proteins Nde1 and Su48 form a complex regulated by phosphorylation". Oncogene. 25 (45): 6048–55. doi:10.1038/sj.onc.1209637. PMID 16682949. S2CID 25669587.
- Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
- Hennah W, Tomppo L, Hiekkalinna T, et al. (2007). "Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1". Hum. Mol. Genet. 16 (5): 453–62. doi:10.1093/hmg/ddl462. PMID 17185386.