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Volumn 5, Issue JANUARY2016, 2016, Pages

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

(22)  Kim, Myungjin a   Sandford, Erin b   Gatica, Damian a   Qiu, Yu c   Liu, Xu a   Zheng, Yumei c   Schulman, Brenda A c   Xu, Jishu d   Semple, Ian a   Ro, Seung Hyun a   Kim, Boyoung a   Mavioglu, R Nehir e   Tolun, Aslihan e   Jipa, Andras f,g   Takats, Szabolcs g   Karpati, Manuela g   Li, Jun Z d   Yapici, Zuhal h   Juhasz, Gabor f,g   Lee, Jun Hee a   more..


Author keywords

[No Author keywords available]

Indexed keywords

AUTOPHAGY PROTEIN 12; AUTOPHAGY PROTEIN 16L1; AUTOPHAGY PROTEIN 5; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG; ATG12 PROTEIN, HUMAN; ATG5 PROTEIN, HUMAN; AUTOPHAGY RELATED PROTEIN 12; AUTOPHAGY RELATED PROTEIN 5;

EID: 84961279200     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.12245.001     Document Type: Article
Times cited : (163)

References (59)
  • 3
    • 33745410216 scopus 로고    scopus 로고
    • Site-specific transformation of drosophila via C31 integrase-mediated cassette exchange
    • Bateman JR. 2006. Site-specific transformation of drosophila via C31 integrase-mediated cassette exchange. Genetics 173:769-777. doi: 10.1534/genetics.106.056945
    • (2006) Genetics , vol.173 , pp. 769-777
    • Bateman, J.R.1
  • 5
    • 84925937041 scopus 로고    scopus 로고
    • Homozygous splice mutation in CWF19L1 in a turkish family with recessive ataxia syndrome
    • Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M. 2014. Homozygous splice mutation in CWF19L1 in a turkish family with recessive ataxia syndrome. Neurology 83:2175-2182. doi: 10.1212/WNL.0000000000001053
    • (2014) Neurology , vol.83 , pp. 2175-2182
    • Burns, R.1    Majczenko, K.2    Xu, J.3    Peng, W.4    Yapici, Z.5    Dowling, J.J.6    Li, J.Z.7    Burmeister, M.8
  • 6
    • 84938980730 scopus 로고    scopus 로고
    • Autophagic activity in neuronal cell death
    • Button RW, Luo S, Rubinsztein DC. 2015. Autophagic activity in neuronal cell death. Neuroscience Bulletin 31:382-394. doi: 10.1007/s12264-015-1528-y
    • (2015) Neuroscience Bulletin , vol.31 , pp. 382-394
    • Button, R.W.1    Luo, S.2    Rubinsztein, D.C.3
  • 7
    • 50249154070 scopus 로고    scopus 로고
    • In vivo reconstitution of autophagy in Saccharomyces cerevisiae
    • Cao Y, Cheong H, Song H, Klionsky DJ. 2008. In vivo reconstitution of autophagy in Saccharomyces cerevisiae. The Journal of Cell Biology 182:703-713. doi: 10.1083/jcb.200801035
    • (2008) The Journal of Cell Biology , vol.182 , pp. 703-713
    • Cao, Y.1    Cheong, H.2    Song, H.3    Klionsky, D.J.4
  • 11
    • 84891741302 scopus 로고    scopus 로고
    • Chaperone-mediated autophagy: Roles in disease and aging
    • Cuervo AM, Wong E. 2014. Chaperone-mediated autophagy: roles in disease and aging. Cell Research 24:92-104. doi: 10.1038/cr.2013.153
    • (2014) Cell Research , vol.24 , pp. 92-104
    • Cuervo, A.M.1    Wong, E.2
  • 12
    • 79961151306 scopus 로고    scopus 로고
    • Other autosomal recessive and childhood ataxias
    • De Michele G, Filla A. 2012. Other autosomal recessive and childhood ataxias. Handbook of Clinical Neurology 103:343-357. doi: 10.1016/B978-0-444-51892-7.00021-8
    • (2012) Handbook of Clinical Neurology , vol.103 , pp. 343-357
    • De Michele, G.1    Filla, A.2
  • 13
    • 0013681578 scopus 로고
    • Establishment of lymphoblastoid cell lines
    • Doyle A. 1990. Establishment of lymphoblastoid cell lines. Methods in Molecular Biology 5:43-48. doi: 10.1385/0-89603-150-0:43
    • (1990) Methods in Molecular Biology , vol.5 , pp. 43-48
    • Doyle, A.1
  • 15
    • 84954233543 scopus 로고    scopus 로고
    • Exome Aggregation Consortium (ExAC). 2015. ExAC Browser (Beta). http://exac.broadinstitute.org/.
    • (2015) Exac Browser (Beta)
  • 18
    • 43949143804 scopus 로고    scopus 로고
    • The Atg16L complex specifies the site of LC3 lipidation for membrane biogenesis in autophagy
    • Fujita N, Itoh T, Omori H, Fukuda M, Noda T, Yoshimori T. 2008. The Atg16L complex specifies the site of LC3 lipidation for membrane biogenesis in autophagy. Molecular Biology of the Cell 19:2092-2100. doi: 10.1091/mbc.E07-12-1257
    • (2008) Molecular Biology of the Cell , vol.19 , pp. 2092-2100
    • Fujita, N.1    Itoh, T.2    Omori, H.3    Fukuda, M.4    Noda, T.5    Yoshimori, T.6
  • 20
    • 0034098774 scopus 로고    scopus 로고
    • Allegro, a new computer program for multipoint linkage analysis
    • Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. 2000. Allegro, a new computer program for multipoint linkage analysis. Nature Genetics 25:12-13. doi: 10.1038/75514
    • (2000) Nature Genetics , vol.25 , pp. 12-13
    • Gudbjartsson, D.F.1    Jonasson, K.2    Frigge, M.L.3    Kong, A.4
  • 21
    • 0037088811 scopus 로고    scopus 로고
    • A second set of loxP marker cassettes for cre-mediated multiple gene knockouts in budding yeast
    • Gueldener U, Heinisch J, Koehler GJ, Voss D, Hegemann JH. 2002. A second set of loxP marker cassettes for cre-mediated multiple gene knockouts in budding yeast. Nucleic Acids Research 30:23e-23. doi: 10.1093/nar/30.6.e23
    • (2002) Nucleic Acids Research , vol.30
    • Gueldener, U.1    Heinisch, J.2    Koehler, G.J.3    Voss, D.4    Hegemann, J.H.5
  • 25
    • 0011444544 scopus 로고    scopus 로고
    • Polyethyleneimine-mediated transfection of cultured postmitotic neurons from rat sympathetic ganglia and adult human retina
    • Horbinski C, Stachowiak MK, Higgins D, Finnegan SG. 2001. Polyethyleneimine-mediated transfection of cultured postmitotic neurons from rat sympathetic ganglia and adult human retina. BMC Neuroscience 2:2. doi: 10.1186/1471-2202-2-2
    • (2001) BMC Neuroscience , vol.2 , pp. 2
    • Horbinski, C.1    Stachowiak, M.K.2    Higgins, D.3    Finnegan, S.G.4
  • 26
    • 84883874201 scopus 로고    scopus 로고
    • Hereditary ataxias: Overview
    • Jayadev S, Bird TD. 2013. Hereditary ataxias: overview. Genetics in Medicine 15:673-683. doi: 10.1038/gim.2013.28
    • (2013) Genetics in Medicine , vol.15 , pp. 673-683
    • Jayadev, S.1    Bird, T.D.2
  • 27
    • 36849021043 scopus 로고    scopus 로고
    • Atg7-dependent autophagy promotes neuronal health, stress tolerance, and longevity but is dispensable for metamorphosis in drosophila
    • Juhasz G, Erdi B, Sass M, Neufeld TP. 2007. Atg7-dependent autophagy promotes neuronal health, stress tolerance, and longevity but is dispensable for metamorphosis in drosophila. Genes & Development 21:3061-3066. doi: 10.1101/gad.1600707
    • (2007) Genes & Development , vol.21 , pp. 3061-3066
    • Juhasz, G.1    Erdi, B.2    Sass, M.3    Neufeld, T.P.4
  • 28
    • 84982227938 scopus 로고    scopus 로고
    • Identification of an AMPK phosphorylation site in drosophila TSC2 (Gigas) that regulate cell growth
    • Kim M, Lee J. 2015. Identification of an AMPK phosphorylation site in drosophila TSC2 (gigas) that regulate cell growth. International Journal of Molecular Sciences 16:7015-7026. doi: 10.3390/ijms16047015
    • (2015) International Journal of Molecular Sciences , vol.16 , pp. 7015-7026
    • Kim, M.1    Lee, J.2
  • 29
    • 84923329832 scopus 로고    scopus 로고
    • Insights into autophagosome maturation revealed by the structures of ATG5 with its interacting partners
    • Kim JH, Hong SB, Lee JK, Han S, Roh K-H, Lee K-E, Kim YK, Choi E-J, Song HK. 2015a. Insights into autophagosome maturation revealed by the structures of ATG5 with its interacting partners. Autophagy 11:75-87. doi: 10.4161/15548627.2014.984276
    • (2015) Autophagy , vol.11 , pp. 75-87
    • Kim, J.H.1    Hong, S.B.2    Lee, J.K.3    Han, S.4    Roh, K.-H.5    Lee, K.-E.6    Kim, Y.K.7    Choi, E.-J.8    Song, H.K.9
  • 30
    • 84943757294 scopus 로고    scopus 로고
    • Drosophila Gyf/GRB10 interacting GYF protein is an autophagy regulator that controls neuron and muscle homeostasis
    • Kim M, Semple I, Kim B, Kiers A, Nam S, Park H-W, Park H, Ro S-H, Kim J-S, Juhasz G, Lee JH. 2015b. Drosophila Gyf/GRB10 interacting GYF protein is an autophagy regulator that controls neuron and muscle homeostasis. Autophagy 11:1358-1372. doi: 10.1080/15548627.2015.1063766
    • (2015) Autophagy , vol.11 , pp. 1358-1372
    • Kim, M.1    Semple, I.2    Kim, B.3    Kiers, A.4    Nam, S.5    Park, H.-W.6    Park, H.7    Ro, S.-H.8    Kim, J.-S.9    Juhasz, G.10    Lee, J.H.11
  • 32
    • 84884925278 scopus 로고    scopus 로고
    • Highly improved gene targeting by germline-specific Cas9 expression in drosophila
    • Kondo S, Ueda R. 2013. Highly improved gene targeting by germline-specific Cas9 expression in drosophila. Genetics 195:715-721. doi: 10.1534/genetics.113.156737
    • (2013) Genetics , vol.195 , pp. 715-721
    • Kondo, S.1    Ueda, R.2
  • 35
    • 1842583789 scopus 로고    scopus 로고
    • Development by self-digestion
    • Levine B, Klionsky DJ. 2004. Development by self-digestion. Developmental Cell 6:463-177. doi: 10.1016/S1534-5807(04)00099-1
    • (2004) Developmental Cell , vol.6 , pp. 463
    • Levine, B.1    Klionsky, D.J.2
  • 36
    • 58949085244 scopus 로고    scopus 로고
    • An efficient one-step site-directed deletion, insertion, single and multiple-site plasmid mutagenesis protocol
    • Liu H, Naismith JH. 2008. An efficient one-step site-directed deletion, insertion, single and multiple-site plasmid mutagenesis protocol. BMC Biotechnology 8:91. doi: 10.1186/1472-6750-8-91
    • (2008) BMC Biotechnology , vol.8 , pp. 91
    • Liu, H.1    Naismith, J.H.2
  • 39
    • 74249103961 scopus 로고    scopus 로고
    • Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3
    • Menzies FM, Huebener J, Renna M, Bonin M, Riess O, Rubinsztein DC. 2010. Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain 133:93-104. doi: 10.1093/brain/awp292
    • (2010) Brain , vol.133 , pp. 93-104
    • Menzies, F.M.1    Huebener, J.2    Renna, M.3    Bonin, M.4    Riess, O.5    Rubinsztein, D.C.6
  • 41
    • 0032545292 scopus 로고    scopus 로고
    • A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy
    • Mizushima N, Sugita H, Yoshimori T, Ohsumi Y. 1998. A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy. Journal ofBiological Chemistry 273:33889-33892. doi: 10.1074/jbc.273.51.33889
    • (1998) Journal Ofbiological Chemistry , vol.273 , pp. 33889-33892
    • Mizushima, N.1    Sugita, H.2    Yoshimori, T.3    Ohsumi, Y.4
  • 42
    • 84857121123 scopus 로고    scopus 로고
    • NHLBI Go Exome Sequencing Project, Seattle, WA
    • NHLBI Go Exome Sequencing Project. 2015. Exome Variant Server. Seattle, WA.
    • (2015) Exome Variant Server
  • 44
    • 35848944122 scopus 로고    scopus 로고
    • Aberrant membranes and double-membrane structures accumulate in the axons of Atg5 -null purkinje cells before neuronal death
    • Nishiyama J, Miura E, Mizushima N, Watanabe M, Yuzaki M. 2007. Aberrant membranes and double-membrane structures accumulate in the axons of Atg5 -null purkinje cells before neuronal death. Autophagy 3:591-596. doi: 10.4161/auto.4964
    • (2007) Autophagy , vol.3 , pp. 591-596
    • Nishiyama, J.1    Miura, E.2    Mizushima, N.3    Watanabe, M.4    Yuzaki, M.5
  • 45
    • 61949405483 scopus 로고    scopus 로고
    • The quantitative Pho8Delta60 assay of nonspecific autophagy
    • Noda T, Klionsky DJ. 2008. The quantitative Pho8Delta60 assay of nonspecific autophagy. Methods in Enzymology 451:33-42. doi: 10.1016/S0076-6879(08)03203-5
    • (2008) Methods in Enzymology , vol.451 , pp. 33-42
    • Noda, T.1    Klionsky, D.J.2
  • 46
    • 84873405258 scopus 로고    scopus 로고
    • Structure of the Atg12-Atg5 conjugate reveals a platform for stimulating Atg8-PE conjugation
    • Noda NN, Fujioka Y, Hanada T, Ohsumi Y, Inagaki F. 2013. Structure of the Atg12-Atg5 conjugate reveals a platform for stimulating Atg8-PE conjugation. EMBO Reports 14:206-211. doi: 10.1038/embor.2012.208
    • (2013) EMBO Reports , vol.14 , pp. 206-211
    • Noda, N.N.1    Fujioka, Y.2    Hanada, T.3    Ohsumi, Y.4    Inagaki, F.5
  • 47
    • 84872036691 scopus 로고    scopus 로고
    • Structure of the human ATG12~ATG5 conjugate required for LC3 lipidation in autophagy
    • Otomo C, Metlagel Z, Takaesu G, Otomo T. 2013. Structure of the human ATG12~ATG5 conjugate required for LC3 lipidation in autophagy. Nature Structural & Molecular Biology 20:59-66. doi: 10.1038/nsmb.2431
    • (2013) Nature Structural & Molecular Biology , vol.20 , pp. 59-66
    • Otomo, C.1    Metlagel, Z.2    Takaesu, G.3    Otomo, T.4
  • 48
    • 84865623676 scopus 로고    scopus 로고
    • Advantages and limitations of different p62-based assays for estimating autophagic activity in drosophila
    • Pircs K, Nagy P, Varga A, Venkei Z, Erdi B, Hegedus K, Juhasz G, Feany MB. 2012. Advantages and limitations of different p62-based assays for estimating autophagic activity in drosophila. PLoS ONE 7:e44214. doi: 10.1371/journal.pone.0044214
    • (2012) Plos ONE , vol.7
    • Pircs, K.1    Nagy, P.2    Varga, A.3    Venkei, Z.4    Erdi, B.5    Hegedus, K.6    Juhasz, G.7    Feany, M.B.8
  • 49
    • 84892915003 scopus 로고    scopus 로고
    • Binding to E1 and E3 is mutually exclusive for the human autophagy E2 Atg3
    • Qiu Y, Hofmann K, Coats JE, Schulman BA, Kaiser SE. 2013. Binding to E1 and E3 is mutually exclusive for the human autophagy E2 Atg3. Protein Science 22:1691-1697. doi: 10.1002/pro.2381
    • (2013) Protein Science , vol.22 , pp. 1691-1697
    • Qiu, Y.1    Hofmann, K.2    Coats, J.E.3    Schulman, B.A.4    Kaiser, S.E.5
  • 52
    • 84905571259 scopus 로고    scopus 로고
    • Genes and genetic testing in hereditary ataxias
    • Sandford E, Burmeister M. 2014. Genes and genetic testing in hereditary ataxias. Genes 5:586-603. doi: 10.3390/genes5030586
    • (2014) Genes , vol.5 , pp. 586-603
    • Sandford, E.1    Burmeister, M.2
  • 53
    • 34247161367 scopus 로고    scopus 로고
    • Trehalose, a Novel mTOR-independent Autophagy Enhancer, Accelerates the Clearance of Mutant Huntingtin and a-Synuclein
    • Sarkar S, Davies JE, Huang Z, Tunnacliffe A, Rubinsztein DC. 2007. Trehalose, a Novel mTOR-independent Autophagy Enhancer, Accelerates the Clearance of Mutant Huntingtin and a-Synuclein. Journal of Biological Chemistry 282:5641-5652. doi: 10.1074/jbc.M609532200
    • (2007) Journal of Biological Chemistry , vol.282 , pp. 5641-5652
    • Sarkar, S.1    Davies, J.E.2    Huang, Z.3    Tunnacliffe, A.4    Rubinsztein, D.C.5
  • 54
    • 57649227693 scopus 로고    scopus 로고
    • Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies
    • Sarkar S, Ravikumar B, Floto RA, Rubinsztein DC. 2009. Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies. Cell Death and Differentiation 16:46-56. doi: 10.1038/cdd.2008.110
    • (2009) Cell Death and Differentiation , vol.16 , pp. 46-56
    • Sarkar, S.1    Ravikumar, B.2    Floto, R.A.3    Rubinsztein, D.C.4
  • 55
    • 3142677196 scopus 로고    scopus 로고
    • Cargo proteins facilitate the formation of transport vesicles in the cytoplasm to vacuole targeting pathway
    • Shintani T, Klionsky DJ. 2004. Cargo proteins facilitate the formation of transport vesicles in the cytoplasm to vacuole targeting pathway. Journal of Biological Chemistry 279:29889-29894. doi: 10.1074/jbc.M404399200
    • (2004) Journal of Biological Chemistry , vol.279 , pp. 29889-29894
    • Shintani, T.1    Klionsky, D.J.2
  • 57
    • 33845698104 scopus 로고    scopus 로고
    • P[acman]: A BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster
    • Venken KJT, He Y, Hoskins RA, Bellen HJ. 2006. P[acman]: a BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster. Science 314:1747-1751. doi: 10.1126/science.1134426
    • (2006) Science , vol.314 , pp. 1747-1751
    • Venken, K.1    He, Y.2    Hoskins, R.A.3    Bellen, H.J.4
  • 59
    • 14844293217 scopus 로고    scopus 로고
    • Non-progressive congenital ataxia with cerebellar hypoplasia in three families
    • Yapici Z, Eraksoy M. 2005. Non-progressive congenital ataxia with cerebellar hypoplasia in three families. Acta Paediatrica 94:248-253. doi: 10.1080/08035250410022413
    • (2005) Acta Paediatrica , vol.94 , pp. 248-253
    • Yapici, Z.1    Eraksoy, M.2


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