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VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. Ramachandran N, et al. Among authors: wang p. Cell. 2009 Apr 17;137(2):235-46. doi: 10.1016/j.cell.2009.01.054. Cell. 2009. Retraction in: Cell. 2010 Sep 17;142(6):984. doi: 10.1016/j.cell.2010.08.034 PMID: 19379691 Free article. Retracted.
Glycogen hyperphosphorylation underlies lafora body formation.
Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov AG, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: wang p, wang tj. Ann Neurol. 2010 Dec;68(6):925-33. doi: 10.1002/ana.22156. Ann Neurol. 2010. PMID: 21077101
Lafora bodies in skeletal muscle are fiber type specific.
Turnbull J, Girard JM, Pencea N, Zhao X, Graham TE, Wang P, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: wang p. Neurology. 2011 May 10;76(19):1674-6. doi: 10.1212/WNL.0b013e318219faf6. Epub 2011 Mar 30. Neurology. 2011. PMID: 21451149 Free PMC article. No abstract available.
PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.
Turnbull J, DePaoli-Roach AA, Zhao X, Cortez MA, Pencea N, Tiberia E, Piliguian M, Roach PJ, Wang P, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: wang p. PLoS Genet. 2011 Apr;7(4):e1002037. doi: 10.1371/journal.pgen.1002037. Epub 2011 Apr 28. PLoS Genet. 2011. PMID: 21552327 Free PMC article.
Phosphorylation prevents polyglucosan transport in Lafora disease.
Girard JM, Stone SS, Lohi H, Blaszykowski C, Teixeira C, Turnbull J, Wang A, Draginov A, Wang P, Zhao XC, Ackerley CA, Frankland PW, Minassian BA. Girard JM, et al. Among authors: wang p, wang a. Neurology. 2012 Jul 3;79(1):100-2. doi: 10.1212/WNL.0b013e31825dcdac. Epub 2012 May 23. Neurology. 2012. PMID: 22622857 Free PMC article. No abstract available.
Early-onset Lafora body disease.
Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: wang p. Brain. 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205. Brain. 2012. PMID: 22961547 Free PMC article.
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. Ramachandran N, et al. Among authors: wang p. Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12. Acta Neuropathol. 2013. PMID: 23315026
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