GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the most common variant for the childhood/adul...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Ther Nucleic Acids
Egile Nagusiak: van der Wal, Erik, Bergsma, Atze J., van Gestel, Tom J.M., in ‘t Groen, Stijn L.M., Zaehres, Holm, Araúzo-Bravo, Marcos J., Schöler, Hans R., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Gene & Cell Therapy 2017
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5415960/
https://ncbi.nlm.nih.gov/pubmed/28624186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.omtn.2017.03.002
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak