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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Dades bibliogràfiques
Publicat a:Ann Clin Transl Neurol
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7664254/
https://ncbi.nlm.nih.gov/pubmed/33034425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51211
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