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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: ren zp. Cell. 2009 Apr 17;137(2):235-46. doi: 10.1016/j.cell.2009.01.054. Cell. 2009. PMID: 19379691 Free article. Retracted.
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: ren zp. Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12. Acta Neuropathol. 2013. PMID: 23315026
[Expert consensus on the treatment of oral and maxillofacial space infections].
Li YP, Shi B, Zhang JR, Liu YP, Shen GF, Guo CB, Yang C, Li ZB, Zhang ZG, Wang HM, Lu L, Hu KJ, Ji P, Xu B, Zhang W, Liu JM, Gong ZC, Ren ZP, Tian L, Yuan H, Zhang H, Ma J, Kong L. Li YP, et al. Among authors: ren zp. Zhonghua Kou Qiang Yi Xue Za Zhi. 2021 Feb 9;56(2):136-144. doi: 10.3760/cma.j.cn112144-20200323-00169. Zhonghua Kou Qiang Yi Xue Za Zhi. 2021. PMID: 33557496 Chinese.
62 results