DOI: 10.1038/ng1270. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency

10.1038/ng1270

Crossref journal-article

Springer Science and Business Media LLC

Nature Genetics (297)

Bibliography

Irwin, W. A., Bergamin, N., Sabatelli, P., Reggiani, C., Megighian, A., Merlini, L., Braghetta, P., Columbaro, M., Volpin, D., Bressan, G. M., Bernardi, P., & Bonaldo, P. (2003). Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nature Genetics, 35(4), 367â371.

Authors 12

William A Irwin (first)
Natascha Bergamin (additional)
Patrizia Sabatelli (additional)
Carlo Reggiani (additional)
Aram Megighian (additional)
Luciano Merlini (additional)
Paola Braghetta (additional)
Marta Columbaro (additional)
Dino Volpin (additional)
Giorgio M Bressan (additional)
Paolo Bernardi (additional)
Paolo Bonaldo (additional)

References 26 Referenced 442

Keene, D.R., Engvall, E. & Glanville, R.W. Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network. J. Cell Biol. 107, 1995–2006 (1988). (10.1083/jcb.107.5.1995) / J. Cell Biol. by DR Keene (1988)
Bonaldo, P., Russo, V., Bucciotti, F., Doliana, R. & Colombatti, A. Structural and functional features of the α3 chain indicate a bridging role for chicken collagen VI in connective tissues. Biochemistry 29, 1245–1254 (1990). (10.1021/bi00457a021) / Biochemistry by P Bonaldo (1990)
Timpl, R. & Chu, M.L. Microfibrillar collagen type VI. in Extracellular Matrix Assembly and Structure (eds. Yurchenco, P.D., Birk, D.E. & Mecham, R.P.) 208–242 (Academic, Orlando, 1994). / Extracellular Matrix Assembly and Structure by R Timpl (1994)
Jöbsis, G.J. et al. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat. Genet. 14, 113–115 (1996). (10.1038/ng0996-113) / Nat. Genet. by GJ Jöbsis (1996)
Camacho Vanegas, O. et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc. Natl. Acad. Sci. USA 98, 7516–7521 (2001). (10.1073/pnas.121027598) / Proc. Natl. Acad. Sci. USA by O Camacho Vanegas (2001)
Bonaldo, P. et al. Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. Hum. Mol. Genet. 7, 2135–2140 (1998). (10.1093/hmg/7.13.2135) / Hum. Mol. Genet. by P Bonaldo (1998)
Plant, D.R. & Lynch, G.S. Excitation-contraction coupling and sarcoplasmic reticulum function in mechanically skinned fibres from fast skeletal muscles of aged mice. J. Physiol. 543, 169–176 (2002). (10.1113/jphysiol.2002.022418) / J. Physiol. by DR Plant (2002)
Irwin, W. et al. Bupivacaine myotoxicity is mediated by mitochondria. J. Biol. Chem. 277, 12221–12227 (2002). (10.1074/jbc.M108938200) / J. Biol. Chem. by W Irwin (2002)
Nicholls, D.G. & Ward, M.W. Mitochondrial membrane potential and neuronal glutamate excitotoxicity: mortality and millivolts. Trends Neurosci. 23, 166–174 (2000). (10.1016/S0166-2236(99)01534-9) / Trends Neurosci. by DG Nicholls (2000)
D'hahan, N. et al. Pharmacological plasticity of cardiac ATP-sensitive potassium channels toward diazoxide revealed by ADP. Proc. Natl. Acad. Sci. USA 96, 12162–12167 (1999). (10.1073/pnas.96.21.12162) / Proc. Natl. Acad. Sci. USA by N D'hahan (1999)
Gugliucci, A. et al. Mitochondria are direct targets of the lipoxygenase inhibitor MK886. A strategy for cell killing by combined treatment with MK886 and cyclooxygenase inhibitors. J. Biol. Chem. 277, 31789–31795 (2002). (10.1074/jbc.M204450200) / J. Biol. Chem. by A Gugliucci (2002)
Bernardi, P., Petronilli, V., Di Lisa, F. & Forte, M. A mitochondrial perspective on cell death. Trends Biochem. Sci. 26, 112–117 (2001). (10.1016/S0968-0004(00)01745-X) / Trends Biochem. Sci. by P Bernardi (2001)
Griffiths, E.J. & Halestrap, A.P. Further evidence that cyclosporin A protects mitochondria from calcium overload by inhibiting a matrix peptidyl-prolyl cis-trans isomerase. Biochem. J. 274, 611–614 (1991). (10.1042/bj2740611) / Biochem. J. by EJ Griffiths (1991)
Bowser, D.N., Minamikawa, T., Nagley, P. & Williams, D.A. Role of mitochondria in calcium regulation of spontaneously contracting cardiac muscle cells. Biophys. J. 75, 2004–2014 (1998). (10.1016/S0006-3495(98)77642-8) / Biophys. J. by DN Bowser (1998)
Bowser, D.N., Petrou, S., Panchal, R.G., Smart, M.L. & Williams, D.A. Release of mitochondrial Ca2+ via the permeability transition activates endoplasmic reticulum Ca2+ uptake. FASEB J. 16, 1105–1107 (2002). (10.1096/fj.01-0828fje) / FASEB J. by DN Bowser (2002)
Grynkiewicz, G., Poenie, M. & Tsien, R.Y. A new generation of Ca2+ indicators with greatly improved fluorescent properties. J. Biol. Chem. 260, 3440–3450 (1985). (10.1016/S0021-9258(19)83641-4) / J. Biol. Chem. by G Grynkiewicz (1985)
Zhao, F., Li, P., Chen, S.R., Louis, C.F. & Fruen, B.R. Dantrolene inhibition of ryanodine receptor Ca2+ release channels. J. Biol. Chem. 276, 13810–13816 (2001). (10.1074/jbc.M006104200) / J. Biol. Chem. by F Zhao (2001)
Robert, V. et al. Alteration in calcium handling at the subcellular level in mdx myotubes. J. Biol. Chem. 276, 4647–4651 (2001). (10.1074/jbc.M006337200) / J. Biol. Chem. by V Robert (2001)
Tews, D.S. Apoptosis and muscle fibre loss in neuromuscular disorders. Neuromuscul. Disord. 12, 613–622 (2002). (10.1016/S0960-8966(02)00030-5) / Neuromuscul. Disord. by DS Tews (2002)
Klöhn, P.C. et al. Early resistance to cell death and to onset of the mitochondrial permeability transition during hepatocarcinogenesis with 2-acetylaminofluorene. Proc. Natl. Acad. Sci. USA 100, 10014–10019 (2003). (10.1073/pnas.1633614100) / Proc. Natl. Acad. Sci. USA by PC Klöhn (2003)
Blake, D.J., Weir, A., Newey, S.E. & Davies, K.E. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol. Rev. 82, 291–329 (2002). (10.1152/physrev.00028.2001) / Physiol. Rev. by DJ Blake (2002)
Howell, S.J. & Doane, K.J. Type VI collagen increases cell survival and prevents anti-β1 integrin-mediated apoptosis. Exp. Cell Res. 241, 230–241 (1998). (10.1006/excr.1998.4051) / Exp. Cell Res. by SJ Howell (1998)
Rühl, M. et al. Soluble collagen VI drives serum-starved fibroblasts through S phase and prevents apoptosis via down-regulation of Bax. J. Biol. Chem. 274, 34361–34368 (1999). (10.1074/jbc.274.48.34361) / J. Biol. Chem. by M Rühl (1999)
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Rossi, R., Bottinelli, R., Sorrentino, V. & Reggiani, C. Response to caffeine and ryanodine receptor isoforms in mouse skeletal muscles. Am. J. Physiol. 281, C595–C602 (2001). (10.1152/ajpcell.2001.281.2.C585) / Am. J. Physiol. by R Rossi (2001)
Germinario, E. el al. Early changes of type 2B fibers after denervation of rat EDL skeletal muscle. J. Appl. Physiol. 92, 2045–2052 (2002). (10.1152/japplphysiol.00673.2001) / J. Appl. Physiol. by E Germinario (2002)

Dates

Type	When
Created	21 years, 9 months ago (Nov. 17, 2003, 9 p.m.)
Deposited	2 years, 3 months ago (May 18, 2023, 6:01 p.m.)
Indexed	5 hours, 29 minutes ago (Sept. 3, 2025, 6:43 a.m.)
Issued	21 years, 9 months ago (Nov. 16, 2003)
Published	21 years, 9 months ago (Nov. 16, 2003)
Published Online	21 years, 9 months ago (Nov. 16, 2003)
Published Print	21 years, 9 months ago (Dec. 1, 2003)

Funders 0

None

BibTeX

@article{Irwin_2003, title={Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency}, volume={35}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng1270}, DOI={10.1038/ng1270}, number={4}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Irwin, William A and Bergamin, Natascha and Sabatelli, Patrizia and Reggiani, Carlo and Megighian, Aram and Merlini, Luciano and Braghetta, Paola and Columbaro, Marta and Volpin, Dino and Bressan, Giorgio M and Bernardi, Paolo and Bonaldo, Paolo}, year={2003}, month=nov, pages={367–371} }

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