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Volumn 25, Issue 10, 2016, Pages 1900-1911

Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

CARDIOTOXIN; ANO5 PROTEIN, HUMAN; CHLORIDE CHANNEL;

EID: 84992170348     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw063     Document Type: Article
Times cited : (87)

References (60)
  • 2
    • 84892172072 scopus 로고    scopus 로고
    • Dystrophin complex functions as a scaffold for signaling proteins
    • Constantin, B. (2014) Dystrophin complex functions as a scaffold for signaling proteins. Biochim. Biophys. Acta, 1838, 635-642.
    • (2014) Biochim. Biophys. Acta , vol.1838 , pp. 635-642
    • Constantin, B.1
  • 3
    • 2342621479 scopus 로고    scopus 로고
    • The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma
    • Lapidos, K.A., Kakkar, R. and McNally, E.M. (2004) The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ. Res., 94, 1023-1031.
    • (2004) Circ. Res , vol.94 , pp. 1023-1031
    • Lapidos, K.A.1    Kakkar, R.2    McNally, E.M.3
  • 4
    • 84946134064 scopus 로고    scopus 로고
    • Membrane injury and repair in the muscular dystrophies
    • Cooper, S.T. and Head, S.I. (2015) Membrane injury and repair in the muscular dystrophies. Neuroscientist, 21, 653-668.
    • (2015) Neuroscientist , vol.21 , pp. 653-668
    • Cooper, S.T.1    Head, S.I.2
  • 5
    • 0035037906 scopus 로고    scopus 로고
    • Cell surface events during resealing visualized by scanning-electron microscopy
    • McNeil, P.L. and Baker, M.M. (2001) Cell surface events during resealing visualized by scanning-electron microscopy. Cell Tissue Res., 304, 141-146.
    • (2001) Cell Tissue Res , vol.304 , pp. 141-146
    • McNeil, P.L.1    Baker, M.M.2
  • 6
    • 20344402550 scopus 로고    scopus 로고
    • An emergency response team for membrane repair
    • McNeil, P.L. and Kirchhausen, T. (2005) An emergency response team for membrane repair. Nat. Rev. Mol. Cell Biol., 6, 499-505.
    • (2005) Nat. Rev. Mol. Cell Biol , vol.6 , pp. 499-505
    • McNeil, P.L.1    Kirchhausen, T.2
  • 7
    • 0347379869 scopus 로고    scopus 로고
    • Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing
    • Lennon, N.J., Kho, A., Bacskai, B.J., Perlmutter, S.L., Hyman, B. T. and Brown, R.H. Jr (2003) Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J. Biol. Chem., 278, 50466-50473.
    • (2003) J. Biol. Chem , vol.278 , pp. 50466-50473
    • Lennon, N.J.1    Kho, A.2    Bacskai, B.J.3    Perlmutter, S.L.4    Hyman, B.T.5    Brown, R.H.6
  • 8
    • 34250838745 scopus 로고    scopus 로고
    • Dysferlin in membrane trafficking and patch repair
    • Glover, L. and Brown, R.H. Jr (2007) Dysferlin in membrane trafficking and patch repair. Traffic, 8, 785-794.
    • (2007) Traffic , vol.8 , pp. 785-794
    • Glover, L.1    Brown, R.H.2
  • 9
    • 34548009359 scopus 로고    scopus 로고
    • Dysferlin and muscle membrane repair
    • Han, R. and Campbell, K.P. (2007) Dysferlin and muscle membrane repair. Curr. Opin. Cell Biol., 19, 409-416.
    • (2007) Curr. Opin. Cell Biol , vol.19 , pp. 409-416
    • Han, R.1    Campbell, K.P.2
  • 10
    • 76249096210 scopus 로고    scopus 로고
    • Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies
    • Bolduc, V., Marlow, G., Boycott, K.M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Robitaille, Y., Parent, L., Baas, F. et al. (2010) Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am. J. Hum. Genet., 86, 213-221.
    • (2010) Am. J. Hum. Genet , vol.86 , pp. 213-221
    • Bolduc, V.1    Marlow, G.2    Boycott, K.M.3    Saleki, K.4    Inoue, H.5    Kroon, J.6    Itakura, M.7    Robitaille, Y.8    Parent, L.9    Baas, F.10
  • 14
    • 65749107370 scopus 로고    scopus 로고
    • Anoctamin/TMEM16 family members are Ca2+-activated Clchannels
    • Hartzell, H.C., Yu, K., Xiao, Q., Chien, L.T. and Qu, Z. (2009) Anoctamin/TMEM16 family members are Ca2+-activated Clchannels. J. Physiol., 587, 2127-2139.
    • (2009) J. Physiol , vol.587 , pp. 2127-2139
    • Hartzell, H.C.1    Yu, K.2    Xiao, Q.3    Chien, L.T.4    Qu, Z.5
  • 15
    • 84900406113 scopus 로고    scopus 로고
    • Structure and function of TMEM16 proteins (anoctamins)
    • Pedemonte, N. and Galietta, L.J. (2014) Structure and function of TMEM16 proteins (anoctamins). Physiol. Rev., 94, 419-459.
    • (2014) Physiol. Rev , vol.94 , pp. 419-459
    • Pedemonte, N.1    Galietta, L.J.2
  • 16
    • 84919684864 scopus 로고    scopus 로고
    • TMEM16 proteins: unknown structure and confusing functions
    • Picollo, A., Malvezzi, M. and Accardi, A. (2015) TMEM16 proteins: unknown structure and confusing functions. J. Mol. Biol., 427, 94-105.
    • (2015) J. Mol. Biol , vol.427 , pp. 94-105
    • Picollo, A.1    Malvezzi, M.2    Accardi, A.3
  • 17
    • 78650172970 scopus 로고    scopus 로고
    • Calciumdependent phospholipid scrambling by TMEM16F
    • Suzuki, J., Umeda, M., Sims, P.J. and Nagata, S. (2010) Calciumdependent phospholipid scrambling by TMEM16F. Nature, 468, 834-838.
    • (2010) Nature , vol.468 , pp. 834-838
    • Suzuki, J.1    Umeda, M.2    Sims, P.J.3    Nagata, S.4
  • 19
    • 84918807150 scopus 로고    scopus 로고
    • X-ray structure of a calcium-activated TMEM16 lipid scramblase
    • Brunner, J.D., Lim, N.K., Schenck, S., Duerst, A. and Dutzler, R. (2014) X-ray structure of a calcium-activated TMEM16 lipid scramblase. Nature, 516, 207-212.
    • (2014) Nature , vol.516 , pp. 207-212
    • Brunner, J.D.1    Lim, N.K.2    Schenck, S.3    Duerst, A.4    Dutzler, R.5
  • 22
    • 84877709762 scopus 로고    scopus 로고
    • Calcium-dependent phospholipid scramblase activity of TMEM16 protein family members
    • Suzuki, J., Fujii, T., Imao, T., Ishihara, K., Kuba, H. and Nagata, S. (2013) Calcium-dependent phospholipid scramblase activity of TMEM16 protein family members. J. Biol. Chem., 288, 13305-13316.
    • (2013) J. Biol. Chem , vol.288 , pp. 13305-13316
    • Suzuki, J.1    Fujii, T.2    Imao, T.3    Ishihara, K.4    Kuba, H.5    Nagata, S.6
  • 29
    • 84855985620 scopus 로고    scopus 로고
    • Amyloidosis and exercise intolerance in ANO5 muscular dystrophy
    • Milone, M., Liewluck, T., Winder, T.L. and Pianosi, P.T. (2012) Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul. Disord., 22, 13-15.
    • (2012) Neuromuscul. Disord , vol.22 , pp. 13-15
    • Milone, M.1    Liewluck, T.2    Winder, T.L.3    Pianosi, P.T.4
  • 30
    • 1542346413 scopus 로고    scopus 로고
    • Structure and composition of tubular aggregates of skeletal muscle fibres
    • Pavlovicova, M., Novotova, M. and Zahradnik, I. (2003) Structure and composition of tubular aggregates of skeletal muscle fibres. Gen. Physiol. Biophys., 22, 425-440.
    • (2003) Gen. Physiol. Biophys , vol.22 , pp. 425-440
    • Pavlovicova, M.1    Novotova, M.2    Zahradnik, I.3
  • 31
    • 0034526787 scopus 로고    scopus 로고
    • Age-related appearance of tubular aggregates in the skeletal muscle of almost all male inbred mice
    • Agbulut, O., Destombes, J., Thiesson, D. and Butler-Browne, G. (2000) Age-related appearance of tubular aggregates in the skeletal muscle of almost all male inbred mice. Histochem. Cell Biol., 114, 477-481.
    • (2000) Histochem. Cell Biol , vol.114 , pp. 477-481
    • Agbulut, O.1    Destombes, J.2    Thiesson, D.3    Butler-Browne, G.4
  • 32
    • 84856141914 scopus 로고    scopus 로고
    • Myoblast fusion: lessons from flies and mice
    • Abmayr, S.M. and Pavlath, G.K. (2012) Myoblast fusion: lessons from flies and mice. Development, 139, 641-656.
    • (2012) Development , vol.139 , pp. 641-656
    • Abmayr, S.M.1    Pavlath, G.K.2
  • 33
    • 84905270107 scopus 로고    scopus 로고
    • Rapid actin-cytoskeleton-dependent recruitment of plasma membrane-derived dysferlin at wounds is critical for muscle membrane repair
    • McDade, J.R., Archambeau, A. and Michele, D.E. (2014) Rapid actin-cytoskeleton-dependent recruitment of plasma membrane-derived dysferlin at wounds is critical for muscle membrane repair. FASEB J., 28, 3660-3670.
    • (2014) FASEB J , vol.28 , pp. 3660-3670
    • McDade, J.R.1    Archambeau, A.2    Michele, D.E.3
  • 35
    • 1042264058 scopus 로고    scopus 로고
    • Myotoxic phospholipases A2 and the regeneration of skeletal muscles
    • Harris, J.B. (2003) Myotoxic phospholipases A2 and the regeneration of skeletal muscles. Toxicon, 42, 933-945.
    • (2003) Toxicon , vol.42 , pp. 933-945
    • Harris, J.B.1
  • 37
    • 84922469338 scopus 로고    scopus 로고
    • Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca(2)(+) channels
    • Endo, Y., Noguchi, S., Hara, Y., Hayashi, Y.K., Motomura, K., Miyatake, S., Murakami, N., Tanaka, S., Yamashita, S., Kizu, R. et al. (2015) Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca(2)(+) channels. Hum. Mol. Genet., 24, 637-648.
    • (2015) Hum. Mol. Genet , vol.24 , pp. 637-648
    • Endo, Y.1    Noguchi, S.2    Hara, Y.3    Hayashi, Y.K.4    Motomura, K.5    Miyatake, S.6    Murakami, N.7    Tanaka, S.8    Yamashita, S.9    Kizu, R.10
  • 42
    • 80054082012 scopus 로고    scopus 로고
    • Phosphatidylserine directly and positively regulates fusion of myoblasts into myotubes
    • Jeong, J. and Conboy, I.M. (2011) Phosphatidylserine directly and positively regulates fusion of myoblasts into myotubes. Biochem. Biophys. Res. Commun., 414, 9-13.
    • (2011) Biochem. Biophys. Res. Commun , vol.414 , pp. 9-13
    • Jeong, J.1    Conboy, I.M.2
  • 43
    • 84896265825 scopus 로고    scopus 로고
    • G-protein coupled receptor BAI3 promotes myoblast fusion in vertebrates
    • Hamoud, N., Tran, V., Croteau, L.P., Kania, A. and Cote, J.F. (2014) G-protein coupled receptor BAI3 promotes myoblast fusion in vertebrates. Proc. Natl Acad. Sci. USA, 111, 3745-3750.
    • (2014) Proc. Natl Acad. Sci. USA , vol.111 , pp. 3745-3750
    • Hamoud, N.1    Tran, V.2    Croteau, L.P.3    Kania, A.4    Cote, J.F.5
  • 45
  • 46
    • 0036140216 scopus 로고    scopus 로고
    • Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity
    • Rabinowitz, J.E., Rolling, F., Li, C., Conrath, H., Xiao, W., Xiao, X. and Samulski, R.J. (2002) Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity. J. Virol., 76, 791-801.
    • (2002) J. Virol , vol.76 , pp. 791-801
    • Rabinowitz, J.E.1    Rolling, F.2    Li, C.3    Conrath, H.4    Xiao, W.5    Xiao, X.6    Samulski, R.J.7
  • 47
    • 0033541640 scopus 로고    scopus 로고
    • Highly purified recombinant adeno-associated virus vectors are biologically active and free of detectable helper and wildtype viruses
    • Clark, K.R., Liu, X., McGrath, J.P. and Johnson, P.R. (1999) Highly purified recombinant adeno-associated virus vectors are biologically active and free of detectable helper and wildtype viruses. Hum. Gene Ther., 10, 1031-1039.
    • (1999) Hum. Gene Ther , vol.10 , pp. 1031-1039
    • Clark, K.R.1    Liu, X.2    McGrath, J.P.3    Johnson, P.R.4
  • 48
    • 36448994441 scopus 로고    scopus 로고
    • A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy
    • Rodino-Klapac, L.R., Janssen, P.M., Montgomery, C.L., Coley, B.D., Chicoine, L.G., Clark, K.R. andMendell, J.R. (2007) A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy. J. Transl. Med., 5, 45.
    • (2007) J. Transl. Med , vol.5 , pp. 45
    • Rodino-Klapac, L.R.1    Janssen, P.M.2    Montgomery, C.L.3    Coley, B.D.4    Chicoine, L.G.5    Clark K.R.andMendell, J.R.6
  • 49
    • 12744269885 scopus 로고    scopus 로고
    • Adeno-associated virus-mediated microdystrophin expression protects young mdx muscle from contraction-induced injury
    • Liu, M., Yue, Y., Harper, S.Q., Grange, R.W., Chamberlain, J.S. and Duan, D. (2005) Adeno-associated virus-mediated microdystrophin expression protects young mdx muscle from contraction-induced injury. Mol. Ther., 11, 245-256.
    • (2005) Mol. Ther , vol.11 , pp. 245-256
    • Liu, M.1    Yue, Y.2    Harper, S.Q.3    Grange, R.W.4    Chamberlain, J.S.5    Duan, D.6
  • 50
    • 79959358058 scopus 로고    scopus 로고
    • The passive mechanical properties of the extensor digitorum longus muscle are compromised in 2-to 20-mo-old mdx mice
    • Hakim, C.H., Grange, R.W. and Duan, D. (2011) The passive mechanical properties of the extensor digitorum longus muscle are compromised in 2-to 20-mo-old mdx mice. J. Appl. Physiol. (1985), 110, 1656-1663.
    • (2011) J. Appl. Physiol. (1985) , vol.110 , pp. 1656-1663
    • Hakim, C.H.1    Grange, R.W.2    Duan, D.3
  • 56
    • 84878807818 scopus 로고    scopus 로고
    • Electrophysiologic biomarkers for assessing disease progression and the effect of riluzole in SOD1 G93A ALS mice
    • Li, J., Sung, M. and Rutkove, S.B. (2013) Electrophysiologic biomarkers for assessing disease progression and the effect of riluzole in SOD1 G93A ALS mice. PLoS One, 8, e65976.
    • (2013) PLoS One , vol.8
    • Li, J.1    Sung, M.2    Rutkove, S.B.3
  • 57
    • 84900518295 scopus 로고    scopus 로고
    • Electrical impedance myography for the in vivo and ex vivo assessment of muscular dystrophy (mdx) mouse muscle
    • Li, J., Geisbush, T.R., Rosen, G.D., Lachey, J., Mulivor, A. and Rutkove, S.B. (2014) Electrical impedance myography for the in vivo and ex vivo assessment of muscular dystrophy (mdx) mouse muscle. Muscle Nerve, 49, 829-835.
    • (2014) Muscle Nerve , vol.49 , pp. 829-835
    • Li, J.1    Geisbush, T.R.2    Rosen, G.D.3    Lachey, J.4    Mulivor, A.5    Rutkove, S.B.6
  • 58
    • 3242679772 scopus 로고    scopus 로고
    • The COX-2 pathway is essential during early stages of skeletal muscle regeneration
    • Bondesen, B.A., Mills, S.T., Kegley, K.M. and Pavlath, G.K. (2004) The COX-2 pathway is essential during early stages of skeletal muscle regeneration. Am. J. Physiol. Cell Physiol., 287, C475-C483.
    • (2004) Am. J. Physiol. Cell Physiol , vol.287 , pp. C475-C483
    • Bondesen, B.A.1    Mills, S.T.2    Kegley, K.M.3    Pavlath, G.K.4
  • 59
    • 0035203708 scopus 로고    scopus 로고
    • A muscle precursor celldependent pathway contributes to muscle growth after atrophy
    • Mitchell, P.O. and Pavlath, G.K. (2001) A muscle precursor celldependent pathway contributes to muscle growth after atrophy. Am. J. Physiol. Cell. Physiol., 281, C1706-C1715.
    • (2001) Am. J. Physiol. Cell. Physiol , vol.281 , pp. C1706-C1715
    • Mitchell, P.O.1    Pavlath, G.K.2
  • 60
    • 0028264320 scopus 로고
    • Primary mouse myoblast purification, characterization, and transplantation for cellmediated gene therapy
    • Rando, T.A. and Blau, H.M. (1994) Primary mouse myoblast purification, characterization, and transplantation for cellmediated gene therapy. J. Cell Biol., 125, 1275-1287.
    • (1994) J. Cell Biol , vol.125 , pp. 1275-1287
    • Rando, T.A.1    Blau, H.M.2


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