The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
Open accessAbstract
The formation of the mammalian cortex requires the generation, migration, and differentiation of neurons. The vital role that the microtubule cytoskeleton plays in these cellular processes is reflected by the discovery that mutations in various tubulin isotypes cause different neurodevelopmental diseases, including lissencephaly (TUBA1A), polymicrogyria (TUBA1A, TUBB2B, TUBB3), and an ocular motility disorder (TUBB3). Here, we show that Tubb5 is expressed in neurogenic progenitors in the mouse and that its depletion in vivo perturbs the cell cycle of progenitors and alters the position of migrating neurons. We report the occurrence of three microcephalic patients with structural brain abnormalities harboring de novo mutations in TUBB5 (M299V, V353I, and E401K). These mutant proteins, which affect the chaperone-dependent assembly of tubulin heterodimers in different ways, disrupt neurogenic division and/or migration in vivo. Our results provide insight into the functional repertoire of the tubulin gene family, specifically implicating TUBB5 in embryonic neurogenesis and microcephaly.
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Citations
Cites
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013 · cited 1×
“Most recently, the tubulin genes TUBA1A and TUBB2B have also been implicated in autism spectrum disorders (Neale et al., 2012; Pinto et al., 2010).”
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734
Trekking across the Brain: The Journey of Neuronal Migration
Ayala, R., Shu, T., & Tsai, L.-H. (2007) · Cell · doi:10.1016/j.cell.2006.12.021 · Cited by 620
Cited by
Lord, J., McMullan, D. J., Eberhardt, R. Y., Rinck, G., Hamilton, S. J., Quinlan-Jones, E., Prigmore, E., Keelagher, R., Best, S. K., Carey, G. K., et al. (2019) · The Lancet · doi:10.1016/s0140-6736(18)31940-8 · Cited by 711
Regulation of microtubule motors by tubulin isotypes and post-translational modifications
Sirajuddin, M., Rice, L. M., & Vale, R. D. (2014) · Nature Cell Biology · doi:10.1038/ncb2920 · Cited by 600
Malformations of cortical development: clinical features and genetic causes
Guerrini, R., & Dobyns, W. B. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70040-7 · Cited by 513
Poirier, K., Lebrun, N., Broix, L., Tian, G., Saillour, Y., Boscheron, C., Parrini, E., Valence, S., Pierre, B. S., Oger, M., et al. (2013) · Nature Genetics · doi:10.1038/ng.2613 · Cited by 494
Self-citationTUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology
Stoupa, A., Adam, F., Kariyawasam, D., Strassel, C., Gawade, S., Szinnai, G., Kauskot, A., Lasne, D., Janke, C., Natarajan, K., et al. (2018) · EMBO Molecular Medicine · doi:10.15252/emmm.201809569 · Cited by 71
Metadata
- Authors
- Breuss, M., Heng, J. I.-T., Poirier, K., Tian, G., Jaglin, X. H., Qu, Z., Braun, A., Gstrein, T., Ngo, L., Haas, M., Bahi-Buisson, N., Moutard, M.-L., Passemard, S., Verloes, A., Gressens, P., Xie, Y., Robson, K. J. H., Rani, D. S., Thangaraj, K., Clausen, T., Chelly, J., Cowan, N. J., & Keays, D. A.
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2012-12
- Volume
- 2
- Issue
- 6
- Pages
- 1554-1562
- ISSN
- 2211-1247 (ISSN-L)
- OpenAlex
- W2154934792
- Cited by
- 195
- References
- 3
- FWCI
- 4.84
- Type
- journal article
- Language
- en
- Open access
- gold
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
