A Hypomorphic Dars1(D367Y) Model Recapitulates Key Aspects of the Leukodystrophy HBSL

Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) is a leukodystrophy caused by missense mutations of the aspartyl-tRNA synthetase-encoding gene DARS1. The clinical picture includes the regression of acquired motor milestones, spasticity, ataxia, seizures, nystagm...

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Detalles Bibliográficos
Autores principales: Fröhlich, Dominik, Mendes, Marisa I., Kueh, Andrew J., Bongers, Andre, Herold, Marco J., Salomons, Gajja S., Housley, Gary D., Klugmann, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cellular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7855723/
https://www.ncbi.nlm.nih.gov/pubmed/33551752
http://dx.doi.org/10.3389/fncel.2020.625879

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7855723/
https://www.ncbi.nlm.nih.gov/pubmed/33551752
http://dx.doi.org/10.3389/fncel.2020.625879

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