References
- Goldfarb LG, Park KY, Cervenáková L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998 Aug;19:402–403.
- Vicart P, Caron A, Guicheney P, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet. 1998 Sep;20:92–95.
- Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr;62:1363–1371.
- Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb;57:269–276.
- Vorgerd M, van der Ven PFM, Bruchertseifer V, et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005 Aug;77:297–304.
- Selcen D, Muntoni F, Burton BK, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol. 2009 Dec;65:83–89.
- Selcen D, Bromberg MB, Chin SS, et al. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Neurology. 2011 Nov;77:1951–1959.
- Pfeffer G, Barresi R, Wilson IJ, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry. 2014;85:331–338.
- Sarparanta J, Jonson PH, Golzio C, et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet. 2012 Apr;44:450–5–S1–2.
- Ghaoui R, Palmio J, Brewer J, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. 2016 Jan;86:391–398. Lippincott Williams & Wilkins.
- Homma S, Iwasaki M, Shelton GD, et al. BAG3 deficiency results in fulminant myopathy and early lethality. Am J Pathol. 2006 Sep;169:761–773.
- Lee JH, Takahashi T, Yasuhara N, et al. Bis, a Bcl-2-binding protein that synergizes with Bcl-2 in preventing cell death. Oncogene. 1999 Nov;18:6183–6190.
- Takayama S, Xie Z, Reed JC. An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators. J Biol Chem. 1999 Jan;274:781–786.
- Fuchs M, Poirier DJ, Seguin SJ, et al. Identification of the key structural motifs involved in HspB8/HspB6-Bag3 interaction. Biochem J. 2010 Jan;425:245–255.
- Lünemann JD, Schmidt J, Schmid D, et al. Beta-amyloid is a substrate of autophagy in sporadic inclusion body myositis. Ann Neurol. 2007 May;61:476–483. Wiley Subscription Services, Inc., A Wiley Company.
- Carra S, Seguin SJ, Lambert H, et al. HspB 8 chaperone activity toward poly(Q)-containing proteins depends on its association with Bag3, a stimulator of macroautophagy. J Biol Chem. 2008 Jan;283:1437–1444.
- Arndt V, Dick N, Tawo R, et al. Chaperone-assisted selective autophagy is essential for muscle maintenance. Curr Biol. 2010 Jan;20:143–148.
- Ulbricht A, Eppler FJ, Tapia VE, et al. Cellular mechanotransduction relies on tension-induced and chaperone-assisted autophagy. Curr Biol. 2013 Feb;23:430–435.
- Gamerdinger M, Kaya AM, Wolfrum U, et al. BAG3 mediates chaperone-based aggresome-targeting and selective autophagy of misfolded proteins. EMBO Rep. 2011 Feb;12:149–156.
- Lee H, Cherk S, Chan S, et al. BAG3-related myofibrillar myopathy in a Chinese family. Clin Genet. 2012 Apr;81:394–398.
- Norton N, Li D, Rieder MJ, et al. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet. 2011 Mar;88:273–282. The American Society of Human Genetics.
- Feldman AM, Begay RL, Knezevic T, et al. Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy. J Cell Physiol. 2014 Nov;229:1697–1702.
- Franaszczyk M, Bilinska ZT, Sobieszcza S-ME-MG, et al. The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation. J Transl Med. 2014 July;12:192.
- Hunt L, Atherton J, McGaughran J. Dilated cardiomyopathy - three brothers and a BAG3 mutation. Heart Lung Circ. 2014;23(Suppl 2):e11.
- Odgerel Z, Sarkozy A, Lee H-S, et al. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord. 2010 July;20:438–442. Elsevier B.V.
- Ruparelia AA, Oorschot V, Vaz R, et al. Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency. Acta Neuropathol. 2014 Oct;128:821–833. Springer Berlin Heidelberg.
- Leber Y, Ruparelia AA, Kirfel G, et al. Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage. Hum Mol Genet. 2016 July;25:2776–2788.
- Meister-Broekema M, Freilich R, Jagadeesan C, et al. Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. Nat Commun. 2018 Dec;9:5342. Nature Publishing Group.
- Fang X, Bogomolovas J, Wu T, et al. Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy. J Clin Invest. 2017 Aug;127:3189–3200.
- Schänzer A, Rupp S, Gräf S, et al. Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3. Mol Genet Metab. 2018 Mar;123:388–399.
- Fornai F, Longone P, Cafaro L, et al. Lithium delays progression of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA. 2008 Feb;105:2052–2057.
- Rose C, Menzies FM, Renna M, et al. Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington’s disease. Hum Mol Genet. 2010 May;19:2144–2153.
- Castillo K, Nassif M, Valenzuela V, et al. Trehalose delays the progression of amyotrophic lateral sclerosis by enhancing autophagy in motoneurons. Autophagy. 2013 Sep;9:1308–1320. Taylor & Francis.
- Rodríguez-Navarro JA, Rodríguez L, Casarejos MJ, et al. Trehalose ameliorates dopaminergic and tau pathology in parkin deleted/tau overexpressing mice through autophagy activation. Neurobiol Dis. 2010 Sep;39:423–438.
- Fernando Roth R, Itabashi H, Louie J, et al. Amiodarone toxicity: myopathy and neuropathy. Am Heart J. 1990 May;119:1223–1225.
- Heger JJ, Prystowsky EN, Jackman WM, et al. Clinical efficacy and electrophysiology during long-term therapy for recurrent ventricular tachycardia or ventricular fibrillation. N Engl J Med. 1981 Sep;305:539–545.
- Foretz M, Guigas B, Bertrand L, et al. Metformin: from mechanisms of action to therapies. Cell Metab. 2014 Dec;20:953–966. Elsevier.
- Wu H, Esteve E, Tremaroli V, et al. Metformin alters the gut microbiome of individuals with treatment-naive type 2 diabetes, contributing to the therapeutic effects of the drug. Nat Med. 2017 May;33:S62.
- Ruparelia AA, Oorschot V, Ramm G, et al. FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency. Hum Mol Genet. 2016 25:2131–2142. Oxford University Press.
- Kwan KM, Fujimoto E, Grabher C, et al. The Tol2kit: a multisite gateway-based construction kit for Tol2 transposon transgenesis constructs. Dev Dyn. 2007 Nov;236:3088–3099.
- Sztal TE, Zhao M, Williams C, et al. Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Acta Neuropathol. 2015 Apr:130:389–406;1–18. Springer Berlin Heidelberg.
- Ablain J, Durand EM, Yang S, et al. A CRISPR/Cas9 vector system for tissue-specific gene disruption in zebrafish. Dev Cell. 2015 Mar;32:756–764.
- Hwang WY, Fu Y, Reyon D, et al. Brief communications. Nat Biotechnol. 2013 Jan;31:227–229. Nature Publishing Group.
- Ruparelia AA, Zhao M, Currie PD, et al. Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. Hum Mol Genet. 2012 July;21:4073–4083.
- Boglev Y, Badrock AP, Trotter AJ, et al. Autophagy induction is a Tor- and Tp53-independent cell survival response in a zebrafish model of disrupted ribosome biogenesis. . PLoS Genetics. 2013 . 9:e1003279.
- Zeng L, Guo J, Xu H-B, et al. Direct Blue 71 staining as a destaining-free alternative loading control method for western blotting. Electrophoresis. 2013 Aug;34:2234–2239. John Wiley & Sons, Ltd.
- Sztal TE, Ruparelia AA, Williams C, et al. Using touch-evoked response and locomotion assays to assess muscle performance and function in zebrafish. J Vis Exp. 2016 Oct:116:e54431.
- Abràmoff MD, Magalhães PJ, Ram SJ. Image processing with ImageJ. Biophotonics Int. 2004 Aug;11:36–42.
- Pietzsch T, Preibisch S, Tomancak P, et al. ImgLib 2–generic image processing in Java. Bioinformatics. 2012 Nov;28:3009–3011. Oxford University Press.
- Otsu N. A threshold selection method from gray-level histograms. 1979 IEEE Transactions on Systems, Man, and Cybernetics, 9:62–66.
- Sasarman F, Karpati G, Shoubridge EA. Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy. Hum Mol Genet. 2002 July;11:1669–1681.
- Lochmuller H, Johns T, Shoubridge EA. Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts. Exp Cell Res. 1999 Apr;248:186–193.
- Fuchs M, Boulanger M-C, Lambert H, et al. Adenofection: a method for studying the role of molecular chaperones in cellular morphodynamics by depletion-rescue experiments. J Vis Exp. 2016 Sep;115:e54557.
- Landry M-C, Champagne C, Boulanger M-C, et al. A functional interplay between the small GTPase Rab11a and mitochondria-shaping proteins regulates mitochondrial positioning and polarization of the actin cytoskeleton downstream of Src family kinases. J Biol Chem. 2014 Jan;289:2230–2249. American Society for Biochemistry and Molecular Biology.
- Champagne C, Landry M-C, Gingras M-C, et al. Activation of adenovirus type 2 early region 4 ORF4 cytoplasmic death function by direct binding to Src kinase domain. J Biol Chem. 2004 June;279:25905–25915. American Society for Biochemistry and Molecular Biology.