GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

OBJECTIVE: Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched glycogen aggregates called polyglucosan bodies...

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Detalles Bibliográficos
Autores principales: Chown, Erin E., Wang, Peixiang, Zhao, Xiaochu, Crowder, Justin J., Strober, Jordan W., Sullivan, Mitchell A., Xue, Yunlin, Bennett, Cody S., Perri, Ami M., Evers, Bret M., Roach, Peter J., Depaoli‐Roach, Anna A., Akman, H. Orhan, Pederson, Bartholomew A., Minassian, Berge A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664254/
https://www.ncbi.nlm.nih.gov/pubmed/33034425
http://dx.doi.org/10.1002/acn3.51211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664254/
https://www.ncbi.nlm.nih.gov/pubmed/33034425
http://dx.doi.org/10.1002/acn3.51211

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