2,786
Views
30
CrossRef citations to date
0
Altmetric
Research Paper - Basic Science

Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo

, , , , , , , , , , , & show all
Pages 1911-1927 | Received 07 Mar 2017, Accepted 14 Jun 2018, Published online: 16 Aug 2018

References

  • Wang X, Robbins J. Proteasomal and lysosomal protein degradation and heart disease. J Mol Cell Cardiol. 2014 Jun;71:16–24. PubMed PMID: 24239609; PubMed Central PMCID: PMC4011941.
  • Jung T, Catalgol B, Grune T. The proteasomal system. Mol Aspects Med. 2009 Aug;30(4):191–296. . PubMed PMID: 19371762.
  • Sorokin AV, Kim ER, Ovchinnikov LP. Proteasome system of protein degradation and processing. Biochem Biokhimiia. 2009 Dec;74(13):1411–1442. PubMed PMID: 20210701.
  • Bohnert KR, McMillan JD, Kumar A. Emerging Roles of ER Stress and Unfolded Protein Response Pathways in Skeletal Muscle Health and Disease. J Cell Physiol. 2017 Feb 08. PubMed PMID: 28177127. DOI:10.1002/jcp.25852
  • Labbadia J, Morimoto RI. The biology of proteostasis in aging and disease. Annu Rev Biochem. 2015;84:435–464. PubMed PMID: 25784053; PubMed Central PMCID: PMC4539002.
  • Rinaldi C, Mager I, Wood MJ. Proteostasis and Diseases of the Motor Unit. Front Mol Neurosci. 2016;9:164. PubMed PMID: 28082869; PubMed Central PMCID: PMC5187379.
  • Meyer H, Weihl CC. The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis. J Cell Sci. 2014 Sep 15;127(Pt 18):3877–3883. . PubMed PMID: 25146396; PubMed Central PMCID: PMC4163641.
  • Tang WK, Xia D. Mutations in the Human AAA+ Chaperone p97 and Related Diseases. Front mol biosci. 2016;3:79. PubMed PMID: 27990419; PubMed Central PMCID: PMC5131264.
  • Abramzon Y, Johnson JO, Scholz SW, et al. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2012 Sep;33(9):2231 e1–2231 e6. PubMed PMID: 22572540; PubMed Central PMCID: PMC3391327.
  • de Bot ST, Schelhaas HJ, Kamsteeg EJ, et al. Hereditary spastic paraplegia caused by a mutation in the VCP gene. Brain: J neurology. 2012 Dec;135(Pt 12):e223; author reply e224. PubMed PMID: 22991237.
  • Watts GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004 Apr;36(4):377–381. PubMed PMID: 15034582.
  • Figueroa-Bonaparte S, Hudson J, Barresi R, et al. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):680–681. PubMed PMID: 26105173; PubMed Central PMCID: PMC4893144.
  • Baek GH, Cheng H, Choe V, et al. Cdc48: a swiss army knife of cell biology. J Amino Acids. 2013;2013:183421. PubMed PMID: 24167726; PubMed Central PMCID: PMC3791797.
  • Zhang T, Ye Y. The final moments of misfolded proteins en route to the proteasome. DNA Cell Biol. 2014 Aug;33(8):477–483. . PubMed PMID: 24833120; PubMed Central PMCID: PMC4117260.
  • Nijholt DA, de Graaf TR, van Haastert ES, et al. Endoplasmic reticulum stress activates autophagy but not the proteasome in neuronal cells: implications for Alzheimer’s disease. Cell Death Differ. 2011 Jun;18(6):1071–1081. PubMed PMID: 21252911; PubMed Central PMCID: PMC3131935.
  • Scheper W, Nijholt DA, Hoozemans JJ. The unfolded protein response and proteostasis in Alzheimer disease: preferential activation of autophagy by endoplasmic reticulum stress. Autophagy. 2011 Aug;7(8):910–911. PubMed PMID: 21494086; PubMed Central PMCID: PMC3149694.
  • Weihl CC. Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis. Curr Alzheimer Res. 2011 May;8(3):252–260. PubMed PMID: 21222596; PubMed Central PMCID: PMC3246398.
  • Hubbers CU, Clemen CS, Kesper K, et al. Pathological consequences of VCP mutations on human striated muscle. Brain: J neurology. 2007 Feb;130(Pt 2):381–393. PubMed PMID: 16984901.
  • Clemen CS, Marko M, Strucksberg KH, et al. VCP and PSMF1: antagonistic regulators of proteasome activity. Biochem Biophys Res Commun. 2015 Aug 07;463(4):1210–1217. PubMed PMID: 26086101.
  • Clemen CS, Tangavelou K, Strucksberg KH, et al. Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain: J neurology. 2010 Oct;133(10):2920–2941. PubMed PMID: 20833645.
  • Ropers F, Derivery E, Hu H, et al. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet. 2011 Jul 01;20(13):2585–2590. PubMed PMID: 21498477.
  • Schroder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain pathology. 2009 Jul;19(3):483–492. . PubMed PMID: 19563540.
  • Chou TF, Li K, Frankowski KJ, et al. Structure-activity relationship study reveals ML240 and ML241 as potent and selective inhibitors of p97 ATPase. Chem Med Chem. 2013 Feb;8(2):297–312. PubMed PMID: 23316025; PubMed Central PMCID: PMC3662613.
  • Kotani H, Taimatsu K, Ohga R, et al. Efficient Multiple Genome Modifications Induced by the crRNAs, tracrRNA and Cas9 Protein Complex in Zebrafish. PLoS One. 2015;10(5):e0128319. PubMed PMID: 26010089; PubMed Central PMCID: PMC4444095.
  • Buhrdel JB, Hirth S, Kessler M, et al. In vivo characterization of human myofibrillar myopathy genes in zebrafish. Biochem Biophys Res Commun. 2015 May 29;461(2):217–223. PubMed PMID: 25866181.
  • Bug M, Meyer H. Expanding into new markets–VCP/p97 in endocytosis and autophagy. J Struct Biol. 2012 Aug;179(2):78–82. . PubMed PMID: 22450227.
  • Ju JS, Fuentealba RA, Miller SE, et al. Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease. J Cell Biol. 2009 Dec 14;187(6):875–888. PubMed PMID: 20008565; PubMed Central PMCID: PMC2806317.
  • Buhler A, Kustermann M, Bummer T, et al. Atrogin-1 Deficiency Leads to Myopathy and Heart Failure in Zebrafish. Int J Mol Sci. 2016 Jan 30;17(2). PubMed PMID: 26840306; PubMed Central PMCID: PMC4783921.
  • Badadani M, Nalbandian A, Watts GD, et al. VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One. 2010 Oct 05;5(10). PubMed PMID: 20957154; PubMed Central PMCID: PMC2950155.
  • Nalbandian A, Llewellyn KJ, Kitazawa M, et al. The homozygote VCP(R(1)(5)(5)H/R(1)(5)(5)H) mouse model exhibits accelerated human VCP-associated disease pathology. PLoS One. 2012;7(9):e46308. PubMed PMID: 23029473; PubMed Central PMCID: PMC3460820.
  • Custer SK, Neumann M, Lu H, et al. Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. Hum Mol Genet. 2010 May 01;19(9):1741–1755. PubMed PMID: 20147319.
  • Muller JM, Deinhardt K, Rosewell I, et al. Targeted deletion of p97 (VCP/CDC48) in mouse results in early embryonic lethality. Biochem Biophys Res Commun. 2007 Mar 09;354(2):459–465. PubMed PMID: 17239345.
  • Imamura S, Yabu T, Yamashita M. Protective role of cell division cycle 48 (CDC48) protein against neurodegeneration via ubiquitin-proteasome system dysfunction during zebrafish development. J Biol Chem. 2012 Jun 29;287(27):23047–23056. . PubMed PMID: 22549779; PubMed Central PMCID: PMC3391108.
  • Wojcik C, Yano M, deMartino GN. RNA interference of valosin-containing protein (VCP/p97) reveals multiple cellular roles linked to ubiquitin/proteasome-dependent proteolysis. J Cell Sci. 2004 Jan 15;117(Pt 2):281–292. . PubMed PMID: 14657277.
  • Masiero E, Sandri M. Autophagy inhibition induces atrophy and myopathy in adult skeletal muscles. Autophagy. 2010 Feb;6(2):307–309. PubMed PMID: 20104028.
  • Weihl CC, Pestronk A, Kimonis VE. Valosin-containing protein disease: inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia. Neuromuscular disorders: NMD. 2009 May;19(5):308–315. . PubMed PMID: 19380227; PubMed Central PMCID: PMC2859037.
  • Vardarajan BN, Bruesegem SY, Harbour ME, et al. Identification of Alzheimer disease-associated variants in genes that regulate retromer function. Neurobiol Aging. 2012 Sep;33(9):2231 e15–2231 e30. PubMed PMID: 22673115; PubMed Central PMCID: PMC3391348.
  • Wolf DH, Stolz A. The Cdc48 machine in endoplasmic reticulum associated protein degradation. Biochim Biophys Acta. 2012 Jan;1823(1):117–124. . PubMed PMID: 21945179.
  • Gomes AV. Genetics of proteasome diseases. Scientifica (Cairo). 2013;2013:637629. PubMed PMID: 24490108; PubMed Central PMCID: PMC3892944.
  • Jankowska E, Stoj J, Karpowicz P, et al. The proteasome in health and disease. Curr Pharm Des. 2013;19(6):1010–1028. PubMed PMID: 23016682.
  • Just S, Hirth S, Berger IM, et al. The mediator complex subunit Med10 regulates heart valve formation in zebrafish by controlling Tbx2b-mediated Has2 expression and cardiac jelly formation. Biochem Biophys Res Commun. 2016 Sep 02;477(4):581–588. PubMed PMID: 27343557.
  • Rudeck S, Etard C, Khan MM, et al. A compact unc45b-promoter drives muscle-specific expression in zebrafish and mouse. Genesis. 2016 Aug;54(8):431–438. PubMed PMID: 27295336; PubMed Central PMCID: PMC5113797.
  • Neller J, Dunkler A, Rosler R, et al. A protein complex containing Epo1p anchors the cortical endoplasmic reticulum to the yeast bud tip. J Cell Biol. 2015 Jan 05;208(1):71–87. PubMed PMID: 25547157; PubMed Central PMCID: PMC4284228.
  • Hirth S, Buhler A, Buhrdel JB, et al. Paxillin and Focal Adhesion Kinase (FAK) Regulate Cardiac Contractility in the Zebrafish Heart. PLoS One. 2016;11(3):e0150323. PubMed PMID: 26954676; PubMed Central PMCID: PMC4782988.
  • Sandri M, Sandri C, Gilbert A, et al. Foxo transcription factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy. Cell. 2004 Apr 30;117(3):399–412. PubMed PMID: 15109499; PubMed Central PMCID: PMC3619734.
  • Mammucari C, Milan G, Romanello V, et al. FoxO3 controls autophagy in skeletal muscle in vivo. Cell Metab. 2007 Dec;6(6):458–471. PubMed PMID: 18054315.
  • Just S, Raphel L, Berger IM, et al. Tbx20 Is an Essential Regulator of Embryonic Heart Growth in Zebrafish. PLoS One. 2016;11(12):e0167306. PubMed PMID: 27907103; PubMed Central PMCID: PMC5132222.
  • Kessler M, Berger IM, Just S, et al. Loss of dihydrolipoyl succinyltransferase (DLST) leads to reduced resting heart rate in the zebrafish. Basic Res Cardiol. 2015 Mar;110(2):14. PubMed PMID: 25697682; PubMed Central PMCID: PMC4335124.
  • Meder B, Just S, Vogel B, et al. JunB-CBFbeta signaling is essential to maintain sarcomeric Z-disc structure and when defective leads to heart failure. J Cell Sci. 2010 Aug 01;123(Pt 15):2613–2620. PubMed PMID: 20605922.
  • Dai H, Leeder JS, Cui Y. A modified generalized Fisher method for combining probabilities from dependent tests. Front Genet. 2014;5:32. PubMed PMID: 24600471; PubMed Central PMCID: PMC3929847.