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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: pellissier jf. 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: pellissier jf. Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12. Acta Neuropathol. 2013. PMID: 23315026
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.
Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontes M. Villard L, et al. Among authors: pellissier jf. Eur J Hum Genet. 2000 Feb;8(2):125-9. doi: 10.1038/sj.ejhg.5200432. Eur J Hum Genet. 2000. PMID: 10757644
Further heterogeneity in myopathy with tubular aggregates?
De Paula AM, Bartoli M, Courrier S, Pouget J, Levy N, Pellissier JF, Figarella-Branger D, Krahn M, Attarian S. De Paula AM, et al. Among authors: pellissier jf. Muscle Nerve. 2012 Dec;46(6):984-5. doi: 10.1002/mus.23509. Muscle Nerve. 2012. PMID: 23225398 No abstract available.
[Restrictive cardiomyopathy due to myofibrillar myopathy].
Ligi I, Fraisse A, Chabrol B, Paut O, Bourlon F, Métras D, Bonnet JL, Pellissier JF. Ligi I, et al. Among authors: pellissier jf. Arch Pediatr. 2003 May;10(5):432-5. doi: 10.1016/s0929-693x(03)00036-8. Arch Pediatr. 2003. PMID: 12878336 French.
Adult onset reducing body myopathy.
Figarella-Branger D, Putzu GA, Bouvier-Labit C, Pouget J, Chateau D, Fardeau M, Pellissier JF. Figarella-Branger D, et al. Among authors: pellissier jf. Neuromuscul Disord. 1999 Dec;9(8):580-6. doi: 10.1016/s0960-8966(99)00058-9. Neuromuscul Disord. 1999. PMID: 10619716
369 results