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KIF2A deficiency causes early-onset neurodegeneration

KIF2A is an atypical kinesin that has the capacity to depolymerize microtubules. Patients carrying mutations in KIF2A suffer from progressive microcephaly and mental disabilities. While the role of this protein is well documented in neuronal migration, the relationship between its dysfunction and th...

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Detalles Bibliográficos
Autores principales: Ruiz-Reig, Nuria, Chehade, Georges, Hakanen, Janne, Aittaleb, Mohamed, Wierda, Keimpe, De Wit, Joris, Nguyen, Laurent, Gailly, Philippe, Tissir, Fadel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674219/
https://www.ncbi.nlm.nih.gov/pubmed/36343267
http://dx.doi.org/10.1073/pnas.2209714119