The Notch Pathway in Muscle Disease

The Notch signaling pathway in skeletal muscle health and disease

Duncan DR, Peter Kang, Rabbat JC, Briggs CE, Lidov HG, Darras BT, Kunkel LM. A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology. 2006 Jul 11;67(1):167-9. doi: 10.1212/01.wnl.0000223600.78363.dd. PMID: 16832103.

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy

Saha M, Rizzo SA, Ramanathan M, Hightower RM, Santostefano KE, Terada N, Finkel RS, Berg JS, Chahin N, Pacak CA, Wagner RE, Alexander MS, Draper I, Peter Kang. Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy. Hum Mol Genet. 2019 Jul 15;28(14):2365-2377. doi: 10.1093/hmg/ddz064. PMID: 31267131; PMCID: PMC6606856.

The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila

Draper I, Saha M, Stonebreaker H, Salomon RN, Matin B, Peter Kang. The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila. FEBS Lett. 2019 Apr;593(7):680-696. doi: 10.1002/1873-3468.13348. Epub 2019 Mar 12. PMID: 30802937; PMCID: PMC6504253.

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions

Saha M, Mitsuhashi S, Jones MD, Manko K, Reddy HM, Christine Bruels, Cho KA, Pacak CA, Draper I, Peter Kang. Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions. Hum Mol Genet. 2017 Aug 1;26(15):2984-3000. doi: 10.1093/hmg/ddx189. PMID: 28498977; PMCID: PMC6075367.

Silencing of drpr leads to muscle and brain degeneration in adult Drosophila

Draper I, Mahoney LJ, Mitsuhashi S, Pacak CA, Salomon RN, Peter Kang. Silencing of drpr leads to muscle and brain degeneration in adult Drosophila. Am J Pathol. 2014 Oct;184(10):2653-61. doi: 10.1016/j.ajpath.2014.06.018. Epub 2014 Aug 8. PMID: 25111228; PMCID: PMC4188861.

Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy

Mitsuhashi S, Mitsuhashi H, Alexander MS, Sugimoto H, Peter Kang. Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. FEBS Lett. 2013 Sep 17;587(18):2952-7. doi: 10.1016/j.febslet.2013.08.002. Epub 2013 Aug 15. PMID: 23954233; PMCID: PMC3791867.