CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β–Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease

Krabbe Disease (KD) is a lysosomal storage disorder characterized by the genetic deficiency of the lysosomal enzyme β-galactosyl-ceramidase (GALC). Deficit or a reduction in the activity of the GALC enzyme has been correlated with the progressive accumulation of the sphingolipid metabolite psychosin...

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Detalles Bibliográficos
Autores principales: Rebiai, Rima, Rue, Emily, Zaldua, Steve, Nguyen, Duc, Scesa, Giuseppe, Jastrzebski, Martin, Foster, Robert, Wang, Bin, Jiang, Xuntian, Tai, Leon, Brady, Scott T., van Breemen, Richard, Givogri, Maria I., Sands, Mark S., Bongarzone, Ernesto R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9127972/
https://www.ncbi.nlm.nih.gov/pubmed/35620447
http://dx.doi.org/10.3389/fnmol.2022.896314

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