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- W4385583717 abstract "Neuronal migration and axon growth and guidance require precise control of microtubule dynamics and microtubule-based cargo transport. TUBB3 encodes the neuronal-specific β-tubulin isotype III, TUBB3, a component of neuronal microtubules expressed throughout the life of central and peripheral neurons. Human pathogenic TUBB3 missense variants result in altered TUBB3 function and cause errors either in the growth and guidance of cranial and, to a lesser extent, central axons, or in cortical neuronal migration and organization, and rarely in both. Moreover, human pathogenic missense variants in KIF21A , which encodes an anterograde kinesin motor protein that interacts directly with microtubules, alter KIF21A function and cause errors in cranial axon growth and guidance that can phenocopy TUBB3 variants. Here, we review reported TUBB3 and KIF21A variants, resulting phenotypes, and corresponding functional studies of both wildtype and mutant proteins. We summarize the evidence that, in vitro and in mouse models, loss-of-function and missense variants can alter microtubule dynamics and microtubule-kinesin interactions. Lastly, we highlight additional studies that might contribute to our understanding of the relationship between specific tubulin isotypes and specific kinesin motor proteins in health and disease." @default.
- W4385583717 created "2023-08-05" @default.
- W4385583717 creator A5016799288 @default.
- W4385583717 creator A5061112728 @default.
- W4385583717 creator A5067720089 @default.
- W4385583717 date "2023-08-04" @default.
- W4385583717 modified "2023-10-14" @default.
- W4385583717 title "TUBB3 and KIF21A in neurodevelopment and disease" @default.
- W4385583717 cites W114996625 @default.
- W4385583717 cites W1490514065 @default.
- W4385583717 cites W1491447665 @default.
- W4385583717 cites W1652667259 @default.
- W4385583717 cites W1763750158 @default.
- W4385583717 cites W1823205343 @default.
- W4385583717 cites W1965404941 @default.
- W4385583717 cites W1974403366 @default.
- W4385583717 cites W197651634 @default.
- W4385583717 cites W1977095698 @default.
- W4385583717 cites W1977488564 @default.
- W4385583717 cites W1985501881 @default.
- W4385583717 cites W1987543302 @default.
- W4385583717 cites W1988719871 @default.
- W4385583717 cites W1991582836 @default.
- W4385583717 cites W2002396242 @default.
- W4385583717 cites W2004092382 @default.
- W4385583717 cites W2005611263 @default.
- W4385583717 cites W2006751067 @default.
- W4385583717 cites W2008426619 @default.
- W4385583717 cites W2010025820 @default.
- W4385583717 cites W2017503582 @default.
- W4385583717 cites W2026127748 @default.
- W4385583717 cites W2030398030 @default.
- W4385583717 cites W2032733101 @default.
- W4385583717 cites W2037091801 @default.
- W4385583717 cites W2039134883 @default.
- W4385583717 cites W2039919932 @default.
- W4385583717 cites W2040611815 @default.
- W4385583717 cites W2049225918 @default.
- W4385583717 cites W2050285145 @default.
- W4385583717 cites W2052309340 @default.
- W4385583717 cites W2054275187 @default.
- W4385583717 cites W2056808317 @default.
- W4385583717 cites W2058997498 @default.
- W4385583717 cites W2060504185 @default.
- W4385583717 cites W2062169143 @default.
- W4385583717 cites W2062599935 @default.
- W4385583717 cites W2063176323 @default.
- W4385583717 cites W2065581872 @default.
- W4385583717 cites W2071421557 @default.
- W4385583717 cites W2076204705 @default.
- W4385583717 cites W2076557218 @default.
- W4385583717 cites W2080878273 @default.
- W4385583717 cites W2084158780 @default.
- W4385583717 cites W2084523020 @default.
- W4385583717 cites W2088162801 @default.
- W4385583717 cites W2092806152 @default.
- W4385583717 cites W2093025108 @default.
- W4385583717 cites W2097650695 @default.
- W4385583717 cites W2105727230 @default.
- W4385583717 cites W2111147277 @default.
- W4385583717 cites W2111312207 @default.
- W4385583717 cites W2112008831 @default.
- W4385583717 cites W2112672557 @default.
- W4385583717 cites W2114413673 @default.
- W4385583717 cites W2116387519 @default.
- W4385583717 cites W2119007700 @default.
- W4385583717 cites W2119594782 @default.
- W4385583717 cites W2119795117 @default.
- W4385583717 cites W2119893163 @default.
- W4385583717 cites W2121302141 @default.
- W4385583717 cites W2123211763 @default.
- W4385583717 cites W2125249490 @default.
- W4385583717 cites W2132691381 @default.
- W4385583717 cites W2137818336 @default.
- W4385583717 cites W2138717221 @default.
- W4385583717 cites W2139330091 @default.
- W4385583717 cites W2142530973 @default.
- W4385583717 cites W2144120354 @default.
- W4385583717 cites W2149087699 @default.
- W4385583717 cites W2153492153 @default.
- W4385583717 cites W2154599827 @default.
- W4385583717 cites W2157046916 @default.
- W4385583717 cites W2157319245 @default.
- W4385583717 cites W2159128394 @default.
- W4385583717 cites W2159765618 @default.
- W4385583717 cites W2163302580 @default.
- W4385583717 cites W2163802608 @default.
- W4385583717 cites W2167271220 @default.
- W4385583717 cites W2168926071 @default.
- W4385583717 cites W2169324306 @default.
- W4385583717 cites W2169668454 @default.
- W4385583717 cites W2171905664 @default.
- W4385583717 cites W2172731699 @default.
- W4385583717 cites W2195509724 @default.
- W4385583717 cites W2210809736 @default.
- W4385583717 cites W2229484315 @default.
- W4385583717 cites W2260866709 @default.
- W4385583717 cites W2338404646 @default.
- W4385583717 cites W2338484605 @default.
- W4385583717 cites W2344733175 @default.