Cargando…
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy
Microtubules are cytoskeletal polymers of ⍺/β-tubulin heterodimers essential for a wide range of cellular processes. Pathogenic variations in microtubule-encoding genes (e.g., TUBB4B, which encodes the β-4B tubulin isotype) are responsible for a wide spectrum of cerebral malformations, collectively...
Autores principales: | McFadden, Jason R., Tolete, Christina Deanne P., Huang, Yan, Macnamara, Ellen, Sept, David, Nesterova, Galina, Gahl, William A., Sackett, Dan L., Malicdan, May Christine V. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10336574/ https://www.ncbi.nlm.nih.gov/pubmed/37448631 http://dx.doi.org/10.1016/j.ymgmr.2023.100990 |
Ejemplares similares
-
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies
por: Schröter, Julian, et al.
Publicado: (2020) -
Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy
por: Hung, Kun-Long, et al.
Publicado: (2022) -
Editorial: Tubulinopathies: fundamental and clinical challenges
por: Sferra, Antonella, et al.
Publicado: (2023) -
Epilepsy in Tubulinopathy: Personal Series and Literature Review
por: Romaniello, Romina, et al.
Publicado: (2019) -
Tubulin Cytoskeleton in Neurodegenerative Diseases–not Only Primary Tubulinopathies
por: Cyske, Zuzanna, et al.
Publicado: (2022)