Synaptic Function and Dysfunction in Lysosomal Storage Diseases

por Rebiai, Rima, Givogri, Maria I., Gowrishankar, Swetha, Cologna, Stephania M., Alford, Simon T., Bongarzone, Ernesto R.
Publicado 2021

Inhibition of the IGF-1–PI3K–Akt–mTORC2 pathway in lipid rafts increases neuronal vulnerability in a genetic lysosomal glycosphingolipidosis

por Sural-Fehr, Tuba, Singh, Harinder, Cantuti-Catelvetri, Ludovico, Zhu, Hongling, Marshall, Michael S., Rebiai, Rima, Jastrzebski, Martin J., Givogri, Maria I., Rasenick, Mark M., Bongarzone, Ernesto R.
Publicado 2019

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

por 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.
Publicado 2022

The Pathogenic Sphingolipid Psychosine is Secreted in Extracellular Vesicles in the Brain of a Mouse Model of Krabbe Disease

por Reiter, Cory R., Rebiai, Rima, Kwak, Angelika, Marshall, Jeff, Wozniak, Dylan, Scesa, Giusepe, Nguyen, Duc, Rue, Emily, Pathmasiri, Chandimal, Pijewski, Robert, van Breemen, Richard, Cologna, Stephanie, Crocker, Stephen J., Givogri, M Irene, Bongarzone, Ernesto R
Publicado 2022