Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients

Mucopolysaccharidosis type II is a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS) and characterized by the accumulation of the primary storage substrate, glycosaminoglycans (GAGs). Understanding central nervous system (CNS) pathophysiology in neuronopathic MPS II (n...

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Detalles Bibliográficos
Autores principales: Bhalla, Akhil, Ravi, Ritesh, Fang, Meng, Arguello, Annie, Davis, Sonnet S., Chiu, Chi-Lu, Blumenfeld, Jessica R., Nguyen, Hoang N., Earr, Timothy K., Wang, Junhua, Astarita, Giuseppe, Zhu, Yuda, Fiore, Damian, Scearce-Levie, Kimberly, Diaz, Dolores, Cahan, Heather, Troyer, Matthew D., Harris, Jeffrey M., Escolar, Maria L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432645/
https://www.ncbi.nlm.nih.gov/pubmed/32707880
http://dx.doi.org/10.3390/ijms21155188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7432645/
https://www.ncbi.nlm.nih.gov/pubmed/32707880
http://dx.doi.org/10.3390/ijms21155188

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