Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease

References

• Nunnari J, Suomalainen A. Mitochondria: in sickness and in health. Cell 2012; 148:1145-59; PMID:22424226; http://dx.doi.org/10.1016/j.cell.2012.02.035
   PubMed Web of Science ®Google Scholar
• Hoppins S, Nunnari J. Cell biology. mitochondrial dynamics and apoptosis–the ER connection. Science 2012; 337:1052-4; PMID:22936767; http://dx.doi.org/10.1126/science.1224709
   PubMed Web of Science ®Google Scholar
• Youle RJ, van der Bliek AM. Mitochondrial fission, fusion, and stress. Science 2012; 337:1062-5; PMID:22936770; http://dx.doi.org/10.1126/science.1219855
   PubMed Web of Science ®Google Scholar
• Klionsky DJ. The molecular machinery of autophagy: unanswered questions. J Cell Sci 2005; 118:7-18; PMID:15615779
   PubMed Web of Science ®Google Scholar
• Klionsky DJ. Autophagy: from phenomenology to molecular understanding in less than a decade. Nat Rev Mol Cell Biol 2007; 8:931-7; PMID:17712358
   PubMed Web of Science ®Google Scholar
• Lemasters JJ. Selective mitochondrial autophagy, or mitophagy, as a targeted defense against oxidative stress, mitochondrial dysfunction, and aging. Rejuvenation Res 2005; 8:3-5; PMID:15798367
   PubMed Web of Science ®Google Scholar
• Narendra D, Tanaka A, Suen DF, Youle RJ. Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J Cell Biol 2008; 183:795-803; PMID:19029340; http://dx.doi.org/10.1083/jcb.200809125
   PubMed Web of Science ®Google Scholar
• Twig G, Elorza A, Molina AJ, Mohamed H, Wikstrom JD, Walzer G, Stiles L, Haigh SE, Katz S, Las G, et al. Fission and selective fusion govern mitochondrial segregation and elimination by autophagy. Embo J 2008; 27:433-46; PMID:18200046; http://dx.doi.org/10.1038/sj.emboj.7601963
   PubMed Web of Science ®Google Scholar
• Narendra DP, Jin SM, Tanaka A, Suen DF, Gautier CA, Shen J, Cookson MR, Youle RJ. PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol 2010; 8:e1000298; PMID:20126261; http://dx.doi.org/10.1371/journal.pbio.1000298
   PubMed Web of Science ®Google Scholar
• Youle RJ, Narendra DP. Mechanisms of mitophagy. Nat Rev Mol Cell Biol 2011; 12:9-14; PMID:21179058; http://dx.doi.org/10.1038/nrm3028
   PubMed Web of Science ®Google Scholar
• Osellame LD, Duchen MR. Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration. British J Pharmacol 2013; 171:1958-72; PMID:24116849; http://dx.doi.org/10.1111/bph.12453
   PubMedGoogle Scholar
• Terman A, Kurz T, Navratil M, Arriaga EA, Brunk UT. Mitochondrial turnover and aging of long-lived postmitotic cells: the mitochondrial-lysosomal axis theory of aging. Antioxid Redox Signal 2010; 12:503-35; PMID:19650712; http://dx.doi.org/10.1089/ars.2009.2598
   PubMed Web of Science ®Google Scholar
• Settembre C, Fraldi A, Rubinsztein DC, Ballabio A. Lysosomal storage diseases as disorders of autophagy. Autophagy 2008; 4:113-4; PMID:18000397
   PubMed Web of Science ®Google Scholar
• Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A. Autophagy in lysosomal storage disorders. Autophagy 2012; 8:719-30; PMID:22647656; http://dx.doi.org/10.4161/auto.19469
   PubMed Web of Science ®Google Scholar
• Takamura A, Higaki K, Kajimaki K, Otsuka S, Ninomiya H, Matsuda J, Ohno K, Suzuki Y, Nanba E. Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis. Biochem Biophys Res Commun 2008; 367:616-22; PMID:18190792; http://dx.doi.org/10.1016/j.bbrc.2007.12.187
   PubMed Web of Science ®Google Scholar
• Sano R, Annunziata I, Patterson A, Moshiach S, Gomero E, Opferman J, Forte M, d'Azzo A. GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis. Mol Cell 2009; 36:500-11; PMID:19917257; http://dx.doi.org/10.1016/j.molcel.2009.10.021
   PubMed Web of Science ®Google Scholar
• Otomo T, Higaki K, Nanba E, Ozono K, Sakai N. Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts. Mol Genet Metab 2009; 98:393-9; PMID:19656701; http://dx.doi.org/10.1016/j.ymgme.2009.07.002
   PubMed Web of Science ®Google Scholar
• Jennings JJ, Jr., Zhu JH, Rbaibi Y, Luo X, Chu CT, Kiselyov K. Mitochondrial aberrations in mucolipidosis type IV. J Biol Chem 2006; 281:39041-50; PMID:17056595
   Google Scholar
• Cao Y, Espinola JA, Fossale E, Massey AC, Cuervo AM, Macdonald ME, Cotman SL. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem 2006; 281:20483-93; PMID:16714284
   PubMed Web of Science ®Google Scholar
• Osellame LD, Rahim AA, Hargreaves IP, Gegg ME, Richard-Londt A, Brandner S, Waddington SN, Schapira AH, Duchen MR. Mitochondria and quality control defects in a mouse model of gaucher disease–links to parkinson's disease. Cell Metab 2013; 17:941-53; PMID:23707074; http://dx.doi.org/10.1016/j.cmet.2013.04.014
   PubMed Web of Science ®Google Scholar
• de Pablo-Latorre R, Saide A, Polishhuck EV, Nusco E, Fraldi A, Ballabio A. Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases. Hum Mol Genet 2012; 21:1770-81; PMID:22215441; http://dx.doi.org/10.1093/hmg/ddr610
   PubMed Web of Science ®Google Scholar
• Van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet 2008; 372:1342-53; PMID:18929906; http://dx.doi.org/10.1016/S0140-6736(08)61555-X
   PubMed Web of Science ®Google Scholar
• Kishnani PS, Corzo D, Leslie ND, Gruskin D, Van der PA, Clancy JP, Parini R, Morin G, Beck M, Bauer MS, et al. Early treatment with alglucosidase α prolongs long-term survival of infants with Pompe disease. Pediatr Res 2009; 66:329-35; PMID:19542901; http://dx.doi.org/10.1203/PDR.0b013e3181b24e94
   PubMed Web of Science ®Google Scholar
• Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, et al. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med 2012; 14:800-10; PMID:22538254; http://dx.doi.org/10.1038/gim.2012.44
   PubMed Web of Science ®Google Scholar
• Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. JNeurol 2009; 257:91-7; PMID:19649685; http://dx.doi.org/10.1007/s00415-009-5275-3
   PubMedGoogle Scholar
• Raben N, Roberts A, Plotz PH. Role of autophagy in the pathogenesis of Pompe disease. Acta Myol 2007; 26:45-8; PMID:17915569
   PubMedGoogle Scholar
• Spampanato C, Feeney E, Li L, Cardone M, Lim JA, Annunziata F, Zare H, Polishchuk R, Puertollano R, Parenti G, et al. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med 2013; 5:691-706; PMID:23606558; http://dx.doi.org/10.1002/emmm.201202176
   PubMed Web of Science ®Google Scholar
• Prater SN, Patel TT, Buckley AF, Mandel H, Vlodavski E, Banugaria SG, Feeney EJ, Raben N, Kishnani PS. Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy. Orphanet J Rare Diseases 2013; 8:90-101; PMID:23787031; http://dx.doi.org/10.1186/1750-1172-8-90
   PubMedGoogle Scholar
• Feeney EJ, Austin S, Chien YH, Mandel H, Schoser B, Prater S, Hwu WL, Ralston E, Kishnani PS, Raben N. The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients. Acta Neuropathol Commun 2014; 2:2-17; PMID:24383498; http://dx.doi.org/10.1186/2051-5960-2-2
   PubMedGoogle Scholar
• Raben N, Wong A, Ralston E, Myerowitz R. Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten. Am J Med Genet C Semin Med Genet 2012; 160:13-21; PMID:22253254; http://dx.doi.org/10.1002/ajmg.c.31317
   PubMed Web of Science ®Google Scholar
• Schoser BG, Muller-Hocker J, Horvath R, Gempel K, Pongratz D, Lochmuller H, Muller-Felber W. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited. Neuropathol Appl Neurobiol 2007; 33:544-59; PMID:17573812
   PubMed Web of Science ®Google Scholar
• Takikita S, Myerowitz R, Zaal K, Raben N, Plotz PH. Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches. Mol Genet Metab 2009; 96:208-17; PMID:19167256; http://dx.doi.org/10.1016/j.ymgme.2008.12.012
   PubMed Web of Science ®Google Scholar
• Pozzan T, Rizzuto R. High tide of calcium in mitochondria. Nat Cell Biol 2000; 2:E25-7; PMID:10655598
   PubMedGoogle Scholar
• Boitier E, Rea R, Duchen MR. Mitochondria exert a negative feedback on the propagation of intracellular Ca2+ waves in rat cortical astrocytes. J Cell Biol 1999; 145:795-808; PMID:10330407
   PubMedGoogle Scholar
• Kabeya Y, Mizushima N, Ueno T, Yamamoto A, Kirisako T, Noda T, Kominami E, Ohsumi Y, Yoshimori T. LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing. EMBO J 2000; 19:5720-8; PMID:11060023
   PubMed Web of Science ®Google Scholar
• Allen GF, Toth R, James J, Ganley IG. Loss of iron triggers PINK1/Parkin-independent mitophagy. EMBO reports 2013; 14:1127-35; PMID:24176932; http://dx.doi.org/10.1038/embor.2013.168
   PubMed Web of Science ®Google Scholar
• Karunasekara Y, Dulhunty AF, Casarotto MG. The voltage-gated calcium-channel β subunit: more than just an accessory. Europ Biophys J 2009; 39:75-81; PMID:19455319; http://dx.doi.org/10.1007/s00249-009-0467-4
   PubMed Web of Science ®Google Scholar
• Griffin JL. Infantile acid maltase deficiency. I. muscle fiber destruction after lysosomal rupture4. Virchows Arch Cell Pathol Mol Pathol 1984; 45:23-36; PMID:6199885
   PubMedGoogle Scholar
• Thurberg BL, Lynch MC, Vaccaro C, Afonso K, Tsai AC, Bossen E, Kishnani PS, O'Callaghan M. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest 2006; 86:1208-20; PMID:17075580
   PubMed Web of Science ®Google Scholar
• Saftig P, Klumperman J. Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function. Nat Rev Mol Cell Biol 2009; 10:623-35; PMID:19672277; http://dx.doi.org/10.1038/nrm2745
   PubMed Web of Science ®Google Scholar
• Zoncu R, Bar-Peled L, Efeyan A, Wang S, Sancak Y, Sabatini DM. mTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H(+)-ATPase. Science 2011; 334:678-83; PMID:22053050; http://dx.doi.org/10.1126/science.1207056
   PubMed Web of Science ®Google Scholar
• Efeyan A, Zoncu R, Chang S, Gumper I, Snitkin H, Wolfson RL, Kirak O, Sabatini DD, Sabatini DM. Regulation of mTORC1 by the rag GTPases is necessary for neonatal autophagy and survival. Nature 2013; 493:679-83; PMID:23263183; http://dx.doi.org/10.1038/nature11745
   PubMed Web of Science ®Google Scholar
• Bar-Peled L, Sabatini DM. Regulation of mTORC1 by amino acids. Trends Cell Biol 2014; PMID:24698685; http://dx.doi.org/10.1016/j.tcb.2014.03.003
   PubMedGoogle Scholar
• Fukuda T, Ewan L, Bauer M, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 2006; 59:700-8; PMID:16532490
   PubMed Web of Science ®Google Scholar
• Fukuda T, Ahearn M, Roberts A, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther 2006; 14:831-9; PMID:17008131
   PubMed Web of Science ®Google Scholar
• Pascual JM, Roe CR. Systemic metabolic abnormalities in adult-onset acid maltase deficiency: beyond muscle glycogen accumulation. JAMA Neurol 2013; 70:756-63; PMID:23609947; http://dx.doi.org/10.1001/jamaneurol.2013.1507
   PubMedGoogle Scholar
• Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M. Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients. Autophagy 2012; 8:1697-700; PMID:22940840; http://dx.doi.org/10.4161/auto.21691
   PubMed Web of Science ®Google Scholar
• Twig G, Hyde B, Shirihai OS. Mitochondrial fusion, fission and autophagy as a quality control axis: the bioenergetic view. Biochim Biophys Acta 2008; 1777:1092-7; PMID:18519024; http://dx.doi.org/10.1016/j.bbabio.2008.05.001
   PubMed Web of Science ®Google Scholar
• Chen Y, Dorn GW, 2nd. PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria. Science 2013; 340:471-5; PMID:23620051; http://dx.doi.org/10.1126/science.1231031
   PubMed Web of Science ®Google Scholar
• Okatsu K, Iemura S, Koyano F, Go E, Kimura M, Natsume T, Tanaka K, Matsuda N. Mitochondrial hexokinase HKI is a novel substrate of the parkin ubiquitin ligase. Biochem Biophys Res Commun 2012; 428:197-202; PMID:23068103; http://dx.doi.org/10.1016/j.bbrc.2012.10.041
   PubMed Web of Science ®Google Scholar
• Hasson SA, Kane LA, Yamano K, Huang CH, Sliter DA, Buehler E, Wang C, Heman-Ackah SM, Hessa T, Guha R, et al. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. Nature 2013; 504:291-5; PMID:24270810http://dx.doi.org/10.1038/nature12748
   PubMed Web of Science ®Google Scholar
• Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A. A block of autophagy in lysosomal storage disorders. Hum Mol Genet 2008; 17:119-29; PMID:17913701
   PubMed Web of Science ®Google Scholar
• Osellame LD, Duchen MR. Defective quality control mechanisms and accumulation of damaged mitochondria link Gaucher and parkinson diseases. Autophagy 2013; 9:1633-5; PMID:23989665; http://dx.doi.org/10.4161/auto.25878
   PubMed Web of Science ®Google Scholar
• Jennings JJ, Jr., Zhu JH, Rbaibi Y, Luo X, Chu CT, Kiselyov K. Mitochondrial aberrations in mucolipidosis Type IV. J Biol Chem 2006; 281:39041-50; PMID:17056595
   PubMed Web of Science ®Google Scholar
• McLelland GL, Soubannier V, Chen CX, McBride HM, Fon EA. Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality control. Embo J 2014; 33:282-95; PMID:24446486; http://dx.doi.org/10.1002/embj.201385902
   PubMed Web of Science ®Google Scholar
• Katsetos CD, Koutzaki S, Melvin JJ. Mitochondrial dysfunction in neuromuscular disorders. Seminars Pediatr Neurol 2013; 20:202-15; PMID:24331362; http://dx.doi.org/10.1016/j.spen.2013.10.010
   PubMed Web of Science ®Google Scholar
• Bernardi P, Bonaldo P. Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. Cold Spring Harbor perspectives in biology 2013; 5:a011387; PMID:23580791; http://dx.doi.org/10.1101/cshperspect.a011387
   PubMedGoogle Scholar
• Marzetti E, Calvani R, Cesari M, Buford TW, Lorenzi M, Behnke BJ, Leeuwenburgh C. Mitochondrial dysfunction and sarcopenia of aging: from signaling pathways to clinical trials. Int J Biochem Cell Biol 2013; 45:2288-301; PMID:23845738; http://dx.doi.org/10.1016/j.biocel.2013.06.024
   PubMed Web of Science ®Google Scholar
• Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, Blaauw B, Urciuolo A, Tiepolo T, Merlini L, et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med 2010; 16:1313-20; PMID:21037586; http://dx.doi.org/10.1038/nm.2247
   PubMed Web of Science ®Google Scholar
• Percival JM, Siegel MP, Knowels G, Marcinek DJ. Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of duchenne muscular dystrophy are not alleviated by PDE5 inhibition. Hum Mol Genet 2013; 22:153-67; PMID:23049075; http://dx.doi.org/10.1093/hmg/dds415
   PubMedGoogle Scholar
• Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, et al. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A 2009; 106:18763-8; PMID:19846786; http://dx.doi.org/10.1073/pnas.0900705106
   PubMed Web of Science ®Google Scholar
• Rebbeck RT, Karunasekara Y, Board PG, Beard NA, Casarotto MG, Dulhunty AF. Skeletal muscle excitation-contraction coupling: who are the dancing partners? Int J Biochem Cell Biol 2013; 48C:28-38; PMID:24374102; http://dx.doi.org/10.1016/j.biocel.2013.12.001
   PubMedGoogle Scholar
• Hofmann F, Flockerzi V, Kahl S, Wegener JW. L-Type CaV1.2 calcium channels: from in vitro findings to in vivo function. Physiol Rev 2014; 94:303-26; PMID:24382889; http://dx.doi.org/10.1152/physrev.00016.2013
   PubMed Web of Science ®Google Scholar
• Gregg RG, Messing A, Strube C, Beurg M, Moss R, Behan M, Sukhareva M, Haynes S, Powell JA, Coronado R, et al. Absence of the β subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the α 1 subunit and eliminates excitation-contraction coupling. Proc Natl Acad Sci U S A 1996; 93:13961-6; PMID:8943043
   PubMed Web of Science ®Google Scholar
• Pous C, Codogno P. Lysosome positioning coordinates mTORC1 activity and autophagy. Nat Cell Biol 2011; 13:342-4; PMID:21460804; http://dx.doi.org/10.1038/ncb0411-342
   PubMed Web of Science ®Google Scholar
• Korolchuk VI, Saiki S, Lichtenberg M, Siddiqi FH, Roberts EA, Imarisio S, Jahreiss L, Sarkar S, Futter M, Menzies FM, et al. Lysosomal positioning coordinates cellular nutrient responses. Nat Cell Biol 2011; 13:453-60; PMID:21394080; http://dx.doi.org/10.1038/ncb2204
   PubMed Web of Science ®Google Scholar
• Pacini L, Suffredini S, Ponti D, Coppini R, Frati G, Ragona G, Cerbai E, Calogero A. Altered calcium regulation in isolated cardiomyocytes from Egr-1 knock-out mice. Can J Physiol Pharmacol 2013; 91:1135-42; PMID:24289086; http://dx.doi.org/10.1139/cjpp-2012-0419
   PubMedGoogle Scholar
• Hoyer-Hansen M, Bastholm L, Szyniarowski P, Campanella M, Szabadkai G, Farkas T, Bianchi K, Fehrenbacher N, Elling F, Rizzuto R, et al. Control of macroautophagy by calcium, calmodulin-dependent kinase kinase-β, and Bcl-2. Mol Cell 2007; 25:193-205; PMID:17244528
   PubMed Web of Science ®Google Scholar
• Brady NR, Hamacher-Brady A, Yuan H, Gottlieb RA. The autophagic response to nutrient deprivation in the hl-1 cardiac myocyte is modulated by Bcl-2 and sarco/endoplasmic reticulum calcium stores. Febs J 2007; 274:3184-97; PMID:17540004
   PubMed Web of Science ®Google Scholar
• Grotemeier A, Alers S, Pfisterer SG, Paasch F, Daubrawa M, Dieterle A, Viollet B, Wesselborg S, Proikas-Cezanne T, Stork B. AMPK-independent induction of autophagy by cytosolic Ca2+ increase. Cellular Signal 2010; 22:914-25; PMID:20114074; http://dx.doi.org/10.1016/j.cellsig.2010.01.015
   PubMed Web of Science ®Google Scholar
• Ghislat G, Patron M, Rizzuto R, Knecht E. Withdrawal of essential amino acids increases autophagy by a pathway involving Ca2+/calmodulin-dependent kinase kinase-β (CaMKK-β). J Biol Chem 2012; 287:38625-36; PMID:23027865; http://dx.doi.org/10.1074/jbc.M112.365767
   PubMed Web of Science ®Google Scholar
• Ganley IG, Wong PM, Gammoh N, Jiang X. Distinct autophagosomal-lysosomal fusion mechanism revealed by thapsigargin-induced autophagy arrest. Mol Cell 2011; 42:731-43; PMID:21700220; http://dx.doi.org/10.1016/j.molcel.2011.04.024
   PubMed Web of Science ®Google Scholar
• Engedal N, Torgersen ML, Guldvik IJ, Barfeld SJ, Bakula D, Saetre F, Hagen LK, Patterson JB, Proikas-Cezanne T, Seglen PO, et al. Modulation of intracellular calcium homeostasis blocks autophagosome formation. Autophagy 2013; 9:1475-90; PMID:23970164; http://dx.doi.org/10.4161/auto.25900
   PubMed Web of Science ®Google Scholar
• Polster BM, Basanez G, Etxebarria A, Hardwick JM, Nicholls DG. Calpain I induces cleavage and release of apoptosis-inducing factor from isolated mitochondria. J Biol Chem 2005; 280:6447-54; PMID:15590628
   PubMed Web of Science ®Google Scholar
• Susin SA, Lorenzo HK, Zamzami N, Marzo I, Snow BE, Brothers GM, Mangion J, Jacotot E, Costantini P, Loeffler M, et al. Molecular characterization of mitochondrial apoptosis-inducing factor. Nature 1999; 397:441-6; PMID:9989411
   PubMed Web of Science ®Google Scholar
• Dupont-Versteegden EE, Strotman BA, Gurley CM, Gaddy D, Knox M, Fluckey JD, Peterson CA. Nuclear translocation of EndoG at the initiation of disuse muscle atrophy and apoptosis is specific to myonuclei. Am J Physiol Regul Integr Comp Physiol 2006; 291:R1730-40; PMID:16873557
   PubMed Web of Science ®Google Scholar
• Park SY, Kim HY, Lee JH, Yoon KH, Chang MS, Park SK. The age-dependent induction of apoptosis-inducing factor (AIF) in the human semitendinosus skeletal muscle. Cell Mol Biol Lett 2010; 15:1-12; PMID:19685011; http://dx.doi.org/10.2478/s11658-009-0030-4
   PubMedGoogle Scholar
• Marzetti E, Wohlgemuth SE, Lees HA, Chung HY, Giovannini S, Leeuwenburgh C. Age-related activation of mitochondrial caspase-independent apoptotic signaling in rat gastrocnemius muscle. Mech Ageing Dev 2008; 129:542-9; PMID:18579179; http://dx.doi.org/10.1016/j.mad.2008.05.005
   PubMed Web of Science ®Google Scholar
• Peterson CM, Johannsen DL, Ravussin E. Skeletal muscle mitochondria and aging: a review. Journal of aging research 2012; 2012:194821; PMID:22888430; http://dx.doi.org/10.1155/2012/194821
   PubMedGoogle Scholar
• Russell AP, Foletta VC, Snow RJ, Wadley GD. Skeletal muscle mitochondria: a major player in exercise, health and disease. Biochim Biophys Acta 2014; 1840:1276-84; PMID:24291686; http://dx.doi.org/10.1016/j.bbagen.2013.11.016
   PubMed Web of Science ®Google Scholar
• Demontis F, Piccirillo R, Goldberg AL, Perrimon N. Mechanisms of skeletal muscle aging: insights from drosophila and mammalian models. Dis Model Mech 2013; 6:1339-52; PMID:24092876; http://dx.doi.org/10.1242/dmm.012559
   PubMed Web of Science ®Google Scholar
• Mu TW, Fowler DM, Kelly JW. Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. PLoS Biol 2008; 6:e26; PMID:18254660; http://dx.doi.org/10.1371/journal.pbio.0060026
   PubMed Web of Science ®Google Scholar
• Ong DS, Mu TW, Palmer AE, Kelly JW. Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis. Nat Chem Biol 2010; 6:424-32; PMID:20453863; http://dx.doi.org/10.1038/nchembio.368
   PubMedGoogle Scholar
• Naviaux RK, Costanzi E, Haas M, Verma IM. The pCL vector system: rapid production of helper-free, high-titer, recombinant retroviruses. J Virol 1996; 70:5701-5; PMID:8764092
   PubMed Web of Science ®Google Scholar
• Louzao MC, Espina B, Vieytes MR, Vega FV, Rubiolo JA, Baba O, Terashima T, Botana LM. "Fluorescent glycogen" formation with sensibility for in vivo and in vitro detection. Glycoconj J 2008; 25:503-10; PMID:17973187
   PubMedGoogle Scholar
• Raben N, Hill V, Shea L, Takikita S, Baum R, Mizushima N, Ralston E, Plotz P. Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease. Hum Mol Genet 2008; 17:3897-908; PMID:18782848; http://dx.doi.org/10.1093/hmg/ddn292
   PubMed Web of Science ®Google Scholar
• Kirkland RA, Franklin JL. Bax affects production of reactive oxygen by the mitochondria of non-apoptotic neurons. Exp Neurol 2007; 204:458-61; PMID:17097638
   PubMedGoogle Scholar
• Wu JJ, Quijano C, Chen E, Liu H, Cao L, Fergusson MM, Rovira II, Gutkind S, Daniels MP, Komatsu M, et al. Mitochondrial dysfunction and oxidative stress mediate the physiological impairment induced by the disruption of autophagy. Aging (AlbanyNY) 2009; 1:425-37; PMID:20157526
   PubMedGoogle Scholar
• Pan X, Liu J, Nguyen T, Liu C, Sun J, Teng Y, Fergusson MM, Rovira, II, Allen M, Springer DA, et al. The physiological role of mitochondrial calcium revealed by mice lacking the mitochondrial calcium uniporter. Nat Cell Biol 2013; 15:1464-72; PMID:24212091; http://dx.doi.org/10.1038/ncb2868
   PubMed Web of Science ®Google Scholar
• Dimauro I, Pearson T, Caporossi D, Jackson MJ. A simple protocol for the subcellular fractionation of skeletal muscle cells and tissue. BMC Res Notes 2012; 5:513; PMID:22994964; http://dx.doi.org/10.1186/1756-0500-5-513
   PubMedGoogle Scholar
• Gros A, Puig C, Guedan S, Rojas JJ, Alemany R, Cascallo M. Verapamil enhances the antitumoral efficacy of oncolytic adenoviruses. Mol Ther 2010; 18:903-11; PMID:20179683; http://dx.doi.org/10.1038/mt.2010.22
   PubMedGoogle Scholar
• Matsumura CY, Pertille A, Albuquerque TC, Santo Neto H, Marques MJ. Diltiazem and verapamil protect dystrophin-deficient muscle fibers of MDX mice from degeneration: a potential role in calcium buffering and sarcolemmal stability. Muscle Nerve 2009; 39:167-76; PMID:19145649; http://dx.doi.org/10.1002/mus.21188
   PubMedGoogle Scholar
• Nagalakshmi U, Waern K, Snyder M. RNA-Seq: a method for comprehensive transcriptome analysis. Current protocols in molecular biology, edited by Frederick M Ausubel [et al.] 2010; Chapter 4:Unit 44 11 1-3.
   Google Scholar
• Trapnell C, Pachter L, Salzberg SL. TopHat: discovering splice junctions with RNA-Seq. Bioinformatics 2009; 25:1105-11; PMID:19289445; http://dx.doi.org/10.1093/bioinformatics/btp120
   PubMed Web of Science ®Google Scholar
• Sabatelli P, Palma E, Angelin A, Squarzoni S, Urciuolo A, Pellegrini C, Tiepolo T, Bonaldo P, Gualandi F, Merlini L, et al. Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies. J Cell Physiol 2012; 227:2927-35; PMID:21953374; http://dx.doi.org/10.1002/jcp.23039
   PubMedGoogle Scholar
• Pronsato L, La Colla A, Ronda AC, Milanesi L, Boland R, Vasconsuelo A. High passage numbers induce resistance to apoptosis in C2C12 muscle cells. Biocell 2013; 37:1-9; PMID:24396996
   PubMedGoogle Scholar