Title | Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. |
Publication Type | Journal Article |
Year of Publication | 2011 |
Authors | Tischfield MA, Cederquist GY, Gupta ML, Engle EC |
Journal | Curr Opin Genet Dev |
Volume | 21 |
Issue | 3 |
Pagination | 286-94 |
Date Published | 2011 Jun |
ISSN | 1879-0380 |
Keywords | Humans, Microtubules, Mutation, Missense, Nervous System Diseases, Neurons, Phenotype, RNA Splice Sites, Tubulin |
Abstract | A spectrum of neurological disorders characterized by abnormal neuronal migration, differentiation, and axon guidance and maintenance have recently been attributed to missense and splice-site mutations in the genes that encode α-tubulin and β-tubulin isotypes TUBA1A, TUBA8, TUBB2B, and TUBB3, all of which putatively coassemble into neuronal microtubules. The resulting nervous system malformations can include different types of cortical malformations, defects in commissural fiber tracts, and degeneration of motor and sensory axons. Many clinical phenotypes and brain malformations are shared among the various mutations regardless of structural location and/or isotype, while others segregate with distinct amino acids or functional domains within tubulin. Collectively, these disorders provide novel paradigms for understanding the biological functions of microtubules and their core components in normal health and disease. |
DOI | 10.1016/j.gde.2011.01.003 |
Alternate Journal | Curr. Opin. Genet. Dev. |
PubMed ID | 21292473 |
PubMed Central ID | PMC3100401 |
Grant List | R01 EY012498 / EY / NEI NIH HHS / United States R01 EY012498-10 / EY / NEI NIH HHS / United States / / Howard Hughes Medical Institute / United States T32 EY007143 / EY / NEI NIH HHS / United States R01EY12498 / EY / NEI NIH HHS / United States |
Submitted by api_import on December 20, 2019 - 1:38pm