Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle (original) (raw)
References
Benders AAGM, Groenen PJTA, Oerlemens FTJJ, Veerkamp JH, Wieringa B (1997) Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. J Clin Invest 100:1440–1447 ArticlePubMedCAS Google Scholar
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799–808 ArticlePubMedCAS Google Scholar
Calfon M, Zeng H, Urano F, Till JH, Hubbard SR, Harding HP, Clark SG, Ron D (2002) IRE1 couples endoplasmic reticulum load to secretory capacity by precessing the XBP-1 mRNA. Nature 415:92–96 ArticlePubMedCAS Google Scholar
Carpenter S, Karpati G (2001) Pathology of skeletal muscle, 2nd edn. Oxford University Press, New York Google Scholar
Charlet-B N, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA (2002) Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10:45–53 ArticlePubMedCAS Google Scholar
Cros D, Harnden P, Pouget J, Pellissier JF, Gastaut JL, Serratrice G (1988) Peripheral neuropathy in myotonic dystrophy: a nerve biopsy study. Ann Neurol 23:470–476 ArticlePubMedCAS Google Scholar
Dubowitz V (1985) Muscle biopsy. A practical approach, 2nd edn. Bailliere Tindall, London Google Scholar
Ellgaard L, Helenius A (2003) Quality control in the endoplasmic reticulum. Nat Rev Mol Cell Biol 4:181–191 ArticlePubMedCAS Google Scholar
Furling D, Marette A, Puymirat J (1999) Insulin-like growth factor I circumvents defective insulin action in human myotonic dystrophy skeletal muscle cells. Endocrinology 140:4244–4250 ArticlePubMedCAS Google Scholar
Furuno K, Goodman MN, Goldberg AL (1990) Role of different proteolytic systems in the degradation of muscle proteins during denervation atrophy. J Biol Chem 265:8550–8557 PubMedCAS Google Scholar
Harding HP, Zhang Y, Ron D (1999) Protein translation and folding are coupled by an endoplasmic reticulum-resisdent kinase. Nature 397:271–274 ArticlePubMedCAS Google Scholar
Haze K, Yoshida H, Yanagi H, Yura T, Mori K (1999) Mammalian transcription factor ATF6 is synthesized as a transmembrane protein and activated by proteolysis in response to endoplasmic reticulum stress. Mol Biol Cell:3787–3799 Google Scholar
Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, Cooper TA (2004) Muscleblind proteins regulate alternative splicing. EMBO J 23:3103–3112 ArticlePubMedCAS Google Scholar
Hoffman EP, Lehmann-Horn F, Rüdel R (1995) Overexcited or inactive: ion channels in muscle disease. Cell 80:681–686 ArticlePubMedCAS Google Scholar
Hoozemans JJM, Veerhuis R, Van Haastert ES, Rozemuller JM, Baas F, Eikelenboom P, Scheper W (2005) The unfolded protein response is activated in Alzheimer’s disease. Acta Neuropathol (Berl) 110:165–172 ArticleCAS Google Scholar
Ikezoe K, Furuya H, Ohyagi Y, Osoegawa M, Nishino I, Nonaka I, Kira J (2003) Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress. Acta Neuropathol (Berl) 105:603–609 CAS Google Scholar
Kaufman RJ (1999) Stress signaling from the lumen of the endoplasmic reticulum: coordination of gene transcriptional and translational controls. Genes Dev 13:1211–1233 PubMedCAS Google Scholar
Kaufman RJ (2002) Orchestrating the unfolded protein response in health and disease. J Clin Invest 110:1389–1398 ArticlePubMedCAS Google Scholar
Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S (2005) Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet 14:2189–2200 ArticlePubMedCAS Google Scholar
Lindholm D, Wootz H, Korhonen L (2006) ER stress and neurodegenerative diseases. Cell Death Differ 13:385–392 ArticlePubMedCAS Google Scholar
Lyfenko AD, Goonasekera SA, Dirksen RT (2004) Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease. Biochem Biophys Res Commun 322:1256–1266 ArticlePubMedCAS Google Scholar
Maeda M, Taft CS, Bush EW, Holder E, Bailey WM, Neville H, Perryman MB, Bies RD (1995) Identification, tissue-specific expression, and subcellular localization of the 80 and 71 kD forms of myotonic dystrophy kinase protein. J Biol Chem 270:20246–20249 ArticlePubMedCAS Google Scholar
Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA (2002) Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10:35–44 ArticlePubMedCAS Google Scholar
Mori K (2000) Tripartite management of unfolded proteins in the endoplasmic reticulum. Cell 101:451–454 ArticlePubMedCAS Google Scholar
Nakanishi K, Sudo T, Marishima N (2005) Endoplasmic reticulum stress signaling transmitted by ATF6 mediates apoptosis during muscle development. J Cell Biol 169:555–560 ArticlePubMedCAS Google Scholar
Pall GS, Johnson KJ, Smith GL (2003) Abnormal contractile activity and calcium cycling in cardiac myocytes isolated from dmpk knockout mice. Physiol Genomics 13:139–146 PubMedCAS Google Scholar
Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280:737–741 ArticlePubMedCAS Google Scholar
Rao RV, Hermel E, Castro-Obregon S, del Rio G, Ellerby LM, Ellerby HM, Bredesen DE (2001) Coupling endoplasmic reticulum stress to the cell death program. Mechanism of caspase activation. J Biol Chem 276:33869–33874 ArticlePubMedCAS Google Scholar
Ron D (2002) Translational control in the endoplasmic reticulum stress response. J Clin Invest 110:1383–1388 ArticlePubMedCAS Google Scholar
Salviati G, Pierobon-Bormioli S, Betto R, Damiani E, Angelini C, Ringel SP, Salvatori S, Margreth A (1985) Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability, and functional implications. Muscle Nerve 8:299–306 ArticlePubMedCAS Google Scholar
Sato N, Imaizumi K, Manabe T, Taniguchi M, Hitomi J, Katayama T, Yoneda T, Morihara T, Yasuda Y, Takagi T, Kudo T, Tsuda T, Itoyama Y, Makifuchi T, Fraser PE, George-Hyslop PS, Tohyama M (2001) Increased production of beta-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2. J Biol Chem 276:2108–2114 ArticlePubMedCAS Google Scholar
Savkur RS, Philips AV, Cooper TA (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 29:40–47 ArticlePubMedCAS Google Scholar
Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 128:995–1002 ArticlePubMedCAS Google Scholar
Tews DS, Behrhof W, Schindler S (2005) Expression patterns of initiator and effector caspases in denervated human skeletal muscle. Muscle Nerve 31:175–181 ArticlePubMedCAS Google Scholar
Ueda H, Shimokawa M, Yamamoto M, Kameda N, Mizusawa H, Baba T, Terada N, Fujii Y, Ohno S, Ishiura S, Kobayashi T (1999) Decreased expression of myotonic dystrophy protein kinase and disorganization of sarcoplasmic reticulum in skeletal muscle of myotonic dystrophy. J Neurol Sci 162:38–50 ArticlePubMedCAS Google Scholar
Vattemi G, Engel WK, McFerrin J, Askanas V (2004) Endoplasmic reticulum stress and unfolded protein response in inclusion body myositis muscle. Am J Pathol 164:1–7 PubMedCAS Google Scholar
Vattemi G, Tomelleri G, Filosto M, Savio C, Rizzuto N, Tonin P (2005) Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy. Neuropathol Appl Neurobiol 31:45–52 ArticlePubMedCAS Google Scholar
Wang JF, Schröder JM (2000) Comparative morphometric evaluation of peripheral nerves and muscle fibers in myotonic dystrophy. Acta Neuropathol (Berl) 99:39–47 ArticleCAS Google Scholar
Wate R, Ito H, Zhang JH, Ohnishi S, Nakano S, Kusaka H (2005) Expression of an endoplasmic reticulum-resident chaperone, glucose-regulated stress protein 78, in the spinal cord of a mouse model of amyotrophic lateral sclerosis. Acta Neuropathol (Berl) 110:557–562 ArticleCAS Google Scholar
Wing SS, Haas AL, Goldberg AL (1995) Increase in ubiquitin-protein conjugates concomitant with the increase in proteolysis in rat skeletal muscle during starvation and atrophy denervation. Biochem J 307:639–645 PubMedCAS Google Scholar
Wu S, Ibarra M CA, Malicdan MCV, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I (2006) Central core disease is due to RYR1 mutation in more than 90% of patients. Brain 129:1470–1480 ArticlePubMed Google Scholar
Ye J, Rawson RB, Komuro R, Chen X, Dave UP, Prywes R, Brown MS, Goldstein JL (2000) ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. Mol Cell 6:1355–1364 ArticlePubMedCAS Google Scholar
Yoshida H, Matsui T, Yamamoto A, Okada T, Mori K (2001) XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor. Cell 107:881–891 ArticlePubMedCAS Google Scholar