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Volumn 12, Issue 3, 2011, Pages 223-232

A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy

Author keywords

Animal model; Disease gene; Linkage analysis; Mitofusin 2; Neuroaxonal dystrophy

Indexed keywords

GLUTAMIC ACID; GUANOSINE TRIPHOSPHATASE; MESSENGER RNA; MITOFUSIN 2;

EID: 80052747407     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0285-6     Document Type: Article
Times cited : (24)

References (56)
  • 3
    • 0018629882 scopus 로고
    • Infantile neuroaxonal dystrophy
    • J Aicardi P Castelein 1979 Infantile neuroaxonal dystrophy Brain 102 727 748 509195 10.1093/brain/102.4.727 1:STN:280:DyaL3c%2Fms1ChsQ%3D%3D (Pubitemid 10205610)
    • (1979) Brain , vol.102 , Issue.4 , pp. 727-748
    • Aicardi, J.1    Castelein, P.2
  • 5
    • 58149229973 scopus 로고    scopus 로고
    • 2
    • 18799783 10.1212/01.wnl.0000327094.67726.28 1:CAS:528: DC%2BD1cXht1Kgt7%2FP
    • 2 Neurology 71 1402 1409 18799783 10.1212/01.wnl.0000327094.67726.28 1:CAS:528:DC%2BD1cXht1Kgt7%2FP
    • (2008) Neurology , vol.71 , pp. 1402-1409
    • Gregory, A.1    Westaway, S.K.2    Holm, I.E.3
  • 6
    • 62149099955 scopus 로고    scopus 로고
    • Clinical and genetic delineation of neurodegeneration with brain iron accumulation
    • 18981035 10.1136/jmg.2008.061929 1:CAS:528:DC%2BD1MXktVygsbo%3D
    • A Gregory BJ Polster SJ Hayflick 2009 Clinical and genetic delineation of neurodegeneration with brain iron accumulation J Med Genet 46 73 80 18981035 10.1136/jmg.2008.061929 1:CAS:528:DC%2BD1MXktVygsbo%3D
    • (2009) J Med Genet , vol.46 , pp. 73-80
    • Gregory, A.1    Polster, B.J.2    Hayflick, S.J.3
  • 7
    • 0021250287 scopus 로고
    • Axonal dystrophy in a case of connatal thalamic and brain stem degeneration
    • FGI Jennekens PG Barth P Fleury H Veldman JF Keuning J Westdorp 1984 Axonal dystrophy in a case of connatal thalamic and brain stem degeneration Acta Neuropathol 64 68 71 6089496 10.1007/BF00695608 1:STN:280:DyaL2czgtlWhtw%3D%3D (Pubitemid 14095891)
    • (1984) Acta Neuropathologica , vol.64 , Issue.1 , pp. 68-71
    • Jennekens, F.G.I.1    Barth, P.G.2    Fleury, P.3
  • 8
    • 41549127577 scopus 로고    scopus 로고
    • A case of infantile neuroaxonal dystrophy-connatal Seitelberger disease
    • DOI 10.1177/0883073807308710
    • G Chow CJH Padfield 2008 A case of infantile neuroaxonal dystrophy-connatal Seitelberger disease J Child Neurol 23 418 420 18287574 10.1177/0883073807308710 (Pubitemid 351460705)
    • (2008) Journal of Child Neurology , vol.23 , Issue.4 , pp. 418-420
    • Chow, G.1    Padfield, C.J.H.2
  • 9
    • 79952322582 scopus 로고    scopus 로고
    • Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation
    • 20235854 10.2350/10-01-0782-CR.1
    • D Rakheja N Uddin M Mitui S Cope-Yokoyama RN Hogan DK Burns 2010 Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation Pediatr Dev Pathol 13 492 496 20235854 10.2350/10-01-0782-CR.1
    • (2010) Pediatr Dev Pathol , vol.13 , pp. 492-496
    • Rakheja, D.1    Uddin, N.2    Mitui, M.3    Cope-Yokoyama, S.4    Hogan, R.N.5    Burns, D.K.6
  • 10
    • 84920506317 scopus 로고    scopus 로고
    • Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia
    • 20653033 10.1002/cne.22423
    • JC Fyfe RA Al-Tamimi RJ Castellani D Rosenstein D Goldowitz PS Henthorn 2010 Inherited neuroaxonal dystrophy in dogs causing lethal, fetal-onset motor system dysfunction and cerebellar hypoplasia J Comp Neurol 518 3771 3784 20653033 10.1002/cne.22423
    • (2010) J Comp Neurol , vol.518 , pp. 3771-3784
    • Fyfe, J.C.1    Al-Tamimi, R.A.2    Castellani, R.J.3    Rosenstein, D.4    Goldowitz, D.5    Henthorn, P.S.6
  • 11
    • 0242297798 scopus 로고    scopus 로고
    • Canine Imerslund-Grasbeck syndrome maps to a region orthologous to HSA14q
    • DOI 10.1007/s00335-003-2280-1
    • Q He JC Fyfe AA Schäffer A Kilkenney P Werner EF Kirkness PS Henthorn 2003 Canine Imerslund-Gräsbeck syndrome maps to a region orthologous to HSA14q Mamm Genome 14 758 764 14722725 10.1007/s00335-003-2280-1 1:CAS:528:DC%2BD3sXpvVGltb8%3D (Pubitemid 37363688)
    • (2003) Mammalian Genome , vol.14 , Issue.11 , pp. 758-764
    • He, Q.1    Fyfe, J.C.2    Schaffer, A.A.3    Kilkenney, A.4    Werner, P.5    Kirkness, E.F.6    Henthorn, P.S.7
  • 12
    • 0038558013 scopus 로고    scopus 로고
    • Exact genetic linkage computations for general pedigrees
    • 12169547 10.1093/bioinformatics/18.suppl-1.S189
    • M Fishelson D Geiger 2002 Exact genetic linkage computations for general pedigrees Bioinformatics 18 Suppl 1 S189 S198 12169547 10.1093/bioinformatics/ 18.suppl-1.S189
    • (2002) Bioinformatics , vol.18 , Issue.SUPPL. 1
    • Fishelson, M.1    Geiger, D.2
  • 13
    • 0030920610 scopus 로고    scopus 로고
    • Sequence mapping by electronic PCR
    • GD Schuler 1997 Sequence mapping by electronic PCR Genome Res 7 541 550 9149949 1:CAS:528:DyaK2sXjtFWqs7k%3D (Pubitemid 27232016)
    • (1997) Genome Research , vol.7 , Issue.5 , pp. 541-550
    • Schuler, G.D.1
  • 14
    • 0030801002 scopus 로고    scopus 로고
    • Gapped BLAST and PSI-BLAST: A new generation of protein database search programs
    • DOI 10.1093/nar/25.17.3389
    • SF Altschul TL Madden AA Schäffer J Zhang Z Zhang W Miller DJ Lipman 1997 Gapped BLAST and PSI-BLAST-a new generation of protein database search programs Nucleic Acids Res 25 3389 3402 9254694 10.1093/nar/25.17.3389 1:CAS:528:DyaK2sXlvFyhu7w%3D (Pubitemid 27359211)
    • (1997) Nucleic Acids Research , vol.25 , Issue.17 , pp. 3389-3402
    • Altschul, S.F.1    Madden, T.L.2    Schaffer, A.A.3    Zhang, J.4    Zhang, Z.5    Miller, W.6    Lipman, D.J.7
  • 15
    • 33846659488 scopus 로고    scopus 로고
    • Composition-based statistics and translated nucleotide searches: Improving the TBLASTN module of BLAST
    • DOI 10.1186/1741-7007-4-41
    • EM Gertz Y-K Yu R Agarwala AA Schäffer SF Altschul 2006 Composition-based statistics and translated nucleotide searches: improving the TBLASTN module of BLAST BMC Biol 4 41 17156431 10.1186/1741-7007-4-41 (Pubitemid 46195777)
    • (2006) BMC Biology , vol.4 , pp. 41
    • Gerts, E.M.1    Yu, Y.-K.2    Agarwala, R.3    Schaffer, A.A.4    Altschul, S.F.5
  • 16
    • 0034053725 scopus 로고    scopus 로고
    • A greedy algorithm for aligning DNA sequences
    • DOI 10.1089/10665270050081478
    • Z Zhang S Schwartz L Wagner W Miller 2000 A greedy algorithm for aligning DNA sequences J Comput Biol 7 203 214 10890397 10.1089/10665270050081478 1:CAS:528:DC%2BD3cXktl2qsrY%3D (Pubitemid 30412170)
    • (2000) Journal of Computational Biology , vol.7 , Issue.1-2 , pp. 203-214
    • Zhang, Z.1    Schwartz, S.2    Wagner, L.3    Miller, W.4
  • 19
    • 33847050256 scopus 로고    scopus 로고
    • Glycogen storage disease type IIIa in curly-coated retrievers
    • 17338148 10.1111/j.1939-1676.2007.tb02926.x
    • BL Gregory GD Shelton DS Bali Y-T Chen JC Fyfe 2007 Glycogen storage disease type IIIa in curly-coated retrievers J Vet Intern Med 21 40 46 17338148 10.1111/j.1939-1676.2007.tb02926.x
    • (2007) J Vet Intern Med , vol.21 , pp. 40-46
    • Gregory, B.L.1    Shelton, G.D.2    Bali, D.S.3    Chen, Y.-T.4    Fyfe, J.C.5
  • 20
    • 62649175282 scopus 로고    scopus 로고
    • Metabolism of neuroactive steroids in day old chick brain
    • 19200338 10.1111/j.1471-4159.2009.05965.x 1:CAS:528:DC%2BD1MXksVKgtbc%3D
    • E Sujkovic R Mileusnic JP Fry 2009 Metabolism of neuroactive steroids in day old chick brain J Neurochem 109 348 359 19200338 10.1111/j.1471-4159.2009. 05965.x 1:CAS:528:DC%2BD1MXksVKgtbc%3D
    • (2009) J Neurochem , vol.109 , pp. 348-359
    • Sujkovic, E.1    Mileusnic, R.2    Fry, J.P.3
  • 21
    • 0017184389 scopus 로고
    • A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
    • 942051 10.1016/0003-2697(76)90527-3 1:CAS:528:DyaE28XksVehtrY%3D
    • MM Bradford 1976 A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding Anal Biochem 72 248 254 942051 10.1016/0003-2697(76)90527-3 1:CAS:528: DyaE28XksVehtrY%3D
    • (1976) Anal Biochem , vol.72 , pp. 248-254
    • Bradford, M.M.1
  • 22
    • 0033714853 scopus 로고    scopus 로고
    • Cubilin expression and posttranslational modification in the canine gastrointestinal tract
    • 11005762 1:CAS:528:DC%2BD3cXnsFOru7c%3D
    • D Xu JC Fyfe 2000 Cubilin expression and posttranslational modification in the canine gastrointestinal tract Am J Physiol Gastrointest Liver Physiol 279 G748 G756 11005762 1:CAS:528:DC%2BD3cXnsFOru7c%3D
    • (2000) Am J Physiol Gastrointest Liver Physiol , vol.279
    • Xu, D.1    Fyfe, J.C.2
  • 23
    • 18544381909 scopus 로고    scopus 로고
    • A high-resolution recombination map of the human genome
    • 12053178 1:CAS:528:DC%2BD38XkvVGmtLc%3D
    • A Kong DF Gudbjartsson J Sainz, et al. 2002 A high-resolution recombination map of the human genome Nat Genet 31 241 247 12053178 1:CAS:528:DC%2BD38XkvVGmtLc%3D
    • (2002) Nat Genet , vol.31 , pp. 241-247
    • Kong, A.1    Gudbjartsson, D.F.2    Sainz, J.3
  • 24
    • 0036226603 scopus 로고    scopus 로고
    • BLAT-the BLAST-like alignment tool
    • 11932250 1:CAS:528:DC%2BD38XivVemtLw%3D
    • WJ Kent 2002 BLAT-the BLAST-like alignment tool Genome Res 12 656 664 11932250 1:CAS:528:DC%2BD38XivVemtLw%3D
    • (2002) Genome Res , vol.12 , pp. 656-664
    • Kent, W.J.1
  • 25
    • 0025762012 scopus 로고
    • Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
    • 2016084 10.1007/BF00194629 1:CAS:528:DyaK38XjvFWltQ%3D%3D
    • M Krawczak DN Cooper 1991 Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment Hum Genet 86 425 441 2016084 10.1007/BF00194629 1:CAS:528:DyaK38XjvFWltQ%3D%3D
    • (1991) Hum Genet , vol.86 , pp. 425-441
    • Krawczak, M.1    Cooper, D.N.2
  • 26
    • 24344505990 scopus 로고    scopus 로고
    • Microdeletions and microinsertions causing human genetic disease: Common mechanisms of mutagenesis and the role of local DNA sequence complexity
    • DOI 10.1002/humu.20212
    • EV Ball PD Stenson SS Abeysinghe M Krawczak DN Cooper NA Chuzhanova 2005 Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity Hum Mutat 26 205 213 16086312 10.1002/humu.20212 1:CAS:528:DC%2BD2MXhtFSktrbL (Pubitemid 41254376)
    • (2005) Human Mutation , vol.26 , Issue.3 , pp. 205-213
    • Ball, E.V.1    Stenson, P.D.2    Abeysinghe, S.S.3    Krawczak, M.4    Cooper, D.N.5    Chuzhanova, N.A.6
  • 27
    • 23844545553 scopus 로고    scopus 로고
    • Mutational analysis of action of mitochondrial fusion factor mitofusin-2
    • DOI 10.1242/jcs.02449
    • S Honda T Aihara M Hontani K Okubo S Hirose 2005 Mutational analysis of action of mitochondrial fusion factor mitofusin-2 J Cell Sci 118 3153 3161 15985463 10.1242/jcs.02449 1:CAS:528:DC%2BD2MXosVemur0%3D (Pubitemid 41149918)
    • (2005) Journal of Cell Science , vol.118 , Issue.14 , pp. 3153-3161
    • Honda, S.1    Aihara, T.2    Hontani, M.3    Okubo, K.4    Hirose, S.5
  • 29
    • 0018648630 scopus 로고
    • The central nervous system in canine giant axonal neuropathy
    • IR Griffiths ID Duncan 1979 The central nervous system in canine giant axon neuropathy Acta Neuropathol 46 169 172 223361 10.1007/BF00690839 1:STN:280:DyaE1M3ivVWgtA%3D%3D (Pubitemid 9256900)
    • (1979) Acta Neuropathologica , vol.46 , Issue.3 , pp. 169-172
    • Griffiths, I.R.1    Duncan, I.D.2
  • 30
    • 0027586162 scopus 로고
    • Neuroaxonal dystrophy in a Jack Russell terrier pup resembling human infantile neuroaxonal dystrophy
    • 8467699 1:STN:280:DyaK3s3itlCkug%3D%3D
    • BJ Sacre JF Cummings A de Lahunta 1993 Neuroaxonal dystrophy in a Jack Russell terrier pup resembling human infantile neuroaxonal dystrophy Cornell Vet 83 133 142 8467699 1:STN:280:DyaK3s3itlCkug%3D%3D
    • (1993) Cornell Vet , vol.83 , pp. 133-142
    • Sacre, B.J.1    Cummings, J.F.2    De Lahunta, A.3
  • 31
    • 34249313644 scopus 로고    scopus 로고
    • Neuroaxonal dystrophy in dogs: Case report in 2 litters of Papillon puppies
    • DOI 10.1892/0891-6640(2007)21[531:NDIDCR]2.0.CO;2
    • JV Diaz C Duque R Geisel 2007 Neuroaxonal dystrophy in dogs: case report in 2 litters of papillon puppies J Vet Intern Med 21 531 534 17552463 10.1111/j.1939-1676.2007.tb03002.x (Pubitemid 46814205)
    • (2007) Journal of Veterinary Internal Medicine , vol.21 , Issue.3 , pp. 531-534
    • Diaz, J.V.1    Duque, C.2    Geisel, R.3
  • 33
    • 36248996532 scopus 로고    scopus 로고
    • Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in papillon and papillon-related dogs
    • DOI 10.1292/jvms.69.1047
    • K Nibe C Kita M Morozumi Y Awamura S Tamura S Okuno T Kobayashi K Uchida 2007 Clinicopathological feature of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in papillon and papillon-related dogs J Vet Med Sci 69 1047 1052 17984592 10.1292/jvms.69.1047 (Pubitemid 350126350)
    • (2007) Journal of Veterinary Medical Science , vol.69 , Issue.10 , pp. 1047-1052
    • Nibe, K.1    Kita, C.2    Morozumi, M.3    Awamura, Y.4    Tamura, S.5    Okuno, S.6    Kobayashi, T.7    Uchida, K.8
  • 34
    • 67649933447 scopus 로고    scopus 로고
    • Immunohistochemical features of dystrophic axons in papillon dogs with neuroaxonal dystrophy
    • 19176506 10.1354/vp.08-VP-0156-U-FL 1:CAS:528:DC%2BD1MXlvFOns74%3D
    • K Nibe UK NakayamaH 2009 Immunohistochemical features of dystrophic axons in papillon dogs with neuroaxonal dystrophy Vet Pathol 46 474 483 19176506 10.1354/vp.08-VP-0156-U-FL 1:CAS:528:DC%2BD1MXlvFOns74%3D
    • (2009) Vet Pathol , vol.46 , pp. 474-483
    • Nibe, K.1    Nakayamah, U.K.2
  • 36
    • 39549085125 scopus 로고    scopus 로고
    • Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations
    • DOI 10.2353/ajpath.2008.070823
    • I Malik J Turk DJ Mancuso L Montier M Wohltmann DF Wozniak RE Schmidt RW Gross PT Kotzbauer 2008 Disrupted membrane homeostatis and accumulation of ubiquinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations Am J Pathol 172 406 416 18202189 10.2353/ajpath.2008.070823 1:CAS:528:DC%2BD1cXis1aisr4%3D (Pubitemid 351282028)
    • (2008) American Journal of Pathology , vol.172 , Issue.2 , pp. 406-416
    • Malik, I.1    Turk, J.2    Mancuso, D.J.3    Montier, L.4    Wohltmann, M.5    Wozniak, D.F.6    Schmidt, R.E.7    Gross, R.W.8    Kotzbauer, P.T.9
  • 37
    • 73549116096 scopus 로고    scopus 로고
    • Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6
    • 19893029 10.2353/ajpath.2009.090343 1:CAS:528:DC%2BC3cXkt12htg%3D%3D
    • H Wada T Yasuda I Miura K Watabe C Sawa H Kamijuku S Kojo M Taniguchi I Nishino S Wakana H Yoshida K Seino 2009 Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6 Am J Pathol 175 2257 2263 19893029 10.2353/ajpath.2009. 090343 1:CAS:528:DC%2BC3cXkt12htg%3D%3D
    • (2009) Am J Pathol , vol.175 , pp. 2257-2263
    • Wada, H.1    Yasuda, T.2    Miura, I.3    Watabe, K.4    Sawa, C.5    Kamijuku, H.6    Kojo, S.7    Taniguchi, M.8    Nishino, I.9    Wakana, S.10    Yoshida, H.11    Seino, K.12
  • 38
    • 12344334370 scopus 로고    scopus 로고
    • Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
    • DOI 10.1093/hmg/ddi005
    • Y-M Kuo JL Duncan SK Westaway H Yang G Nune EY Xu SJ Hayflick J Gitschier 2005 Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia Hum Mol Genet 14 49 57 15525657 10.1093/hmg/ddi005 1:CAS:528:DC%2BD2MXitFGmtg%3D%3D (Pubitemid 40123462)
    • (2005) Human Molecular Genetics , vol.14 , Issue.1 , pp. 49-57
    • Kuo, Y.-M.1    Duncan, J.L.2    Westaway, S.K.3    Yang, H.4    Nune, G.5    Xu, E.Y.6    Hayflick, S.J.7    Gitschier, J.8
  • 39
    • 34249999964 scopus 로고    scopus 로고
    • Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration
    • DOI 10.1007/s10545-007-0560-8
    • YM Kuo SJ Hayflick J Gitschier 2007 Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration J Inherit Metab Dis 30 310 317 17429753 10.1007/s10545-007-0560-8 1:CAS:528:DC%2BD2sXmtVGisbg%3D (Pubitemid 46881677)
    • (2007) Journal of Inherited Metabolic Disease , vol.30 , Issue.3 , pp. 310-317
    • Kuo, Y.M.1    Hayflick, S.J.2    Gitschier, J.3
  • 40
    • 34548665512 scopus 로고    scopus 로고
    • Localization and regulation of mouse pantothenate kinase 2
    • DOI 10.1016/j.febslet.2007.08.056, PII S0014579307009325
    • R Leonardi Y-M Zhang A Lykidis CO Rock S Jackowski 2007 Localization and regulation of mouse pantothenate kinase 2 FEBS Lett 581 4639 4644 17825826 10.1016/j.febslet.2007.08.056 1:CAS:528:DC%2BD2sXhtVOltr7F (Pubitemid 47418790)
    • (2007) FEBS Letters , vol.581 , Issue.24 , pp. 4639-4644
    • Leonardi, R.1    Zhang, Y.-M.2    Lykidis, A.3    Rock, C.O.4    Jackowski, S.5
  • 41
    • 79954531250 scopus 로고    scopus 로고
    • An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean grey cattle
    • 21526202 10.1371/journal.pone.0018931
    • C Drögemüller U Reichart T Seuberlich, et al. 2011 An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean grey cattle PLoS ONE 6 e18931 21526202 10.1371/journal.pone.0018931
    • (2011) PLoS ONE , vol.6 , pp. 18931
    • Drögemüller, C.1    Reichart, U.2    Seuberlich, T.3
  • 42
    • 22044437261 scopus 로고    scopus 로고
    • How mitochondria fuse
    • DOI 10.1016/j.ceb.2005.06.014, PII S0955067405000906, Membranes and Organelles
    • SL Meeusen J Nunnari 2005 How mitochondria fuse Curr Opin Cell Biol 17 389 394 15975776 10.1016/j.ceb.2005.06.014 1:CAS:528:DC%2BD2MXmt1Sruro%3D (Pubitemid 40968069)
    • (2005) Current Opinion in Cell Biology , vol.17 , Issue.4 , pp. 389-394
    • Meeusen, S.L.1    Nunnari, J.2
  • 44
    • 0038783254 scopus 로고    scopus 로고
    • Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells
    • DOI 10.1242/jcs.00479
    • A Santel S Frank B Gaume M Herrier RJ Youle MT Fuller 2003 Mitofusin-1 protein is a generally expressed mediator of mitochondrial fusion in mammalian cells J Cell Sci 116 2763 2774 12759376 10.1242/jcs.00479 1:CAS:528: DC%2BD3sXlsFamtbg%3D (Pubitemid 36857227)
    • (2003) Journal of Cell Science , vol.116 , Issue.13 , pp. 2763-2774
    • Santetl, A.1    Frank, S.2    Gaume, B.3    Herrler, M.4    Youle, R.J.5    Fuller, M.T.6
  • 45
    • 13444287961 scopus 로고    scopus 로고
    • Mitofusin 1 and 2 play distinct roles in mitochondrial fusion reactions via GTPase activity
    • DOI 10.1242/jcs.01565
    • N Ishihara Y Eura K Mihara 2004 Mitofusin 1 and 2 play distinct roles in mitochondrial fusion reactions via GTPase activity J Cell Sci 117 6535 6546 15572413 10.1242/jcs.01565 1:CAS:528:DC%2BD2MXhtFertLg%3D (Pubitemid 40214575)
    • (2004) Journal of Cell Science , vol.117 , Issue.26 , pp. 6535-6546
    • Ishihara, N.1    Eura, Y.2    Mihara, K.3
  • 46
    • 33749253910 scopus 로고    scopus 로고
    • MARCH-V is a novel mitofusin 2- and Drp1-binding protein able to change mitochondrial morphology
    • DOI 10.1038/sj.embor.7400790, PII 7400790
    • N Nakamura Y Kimura M Tokuda S Honda S Hirose 2006 MARCH-V is a novel mitofusin 2- and Drp1-binding protein able to change mitochondrial morphology EMBO Rep 7 1019 1022 16936636 10.1038/sj.embor.7400790 1:CAS:528: DC%2BD28XhtVajtr7I (Pubitemid 44480517)
    • (2006) EMBO Reports , vol.7 , Issue.10 , pp. 1019-1022
    • Nakamura, N.1    Kimura, Y.2    Tokuda, M.3    Honda, S.4    Hirose, S.5
  • 47
    • 34247150723 scopus 로고    scopus 로고
    • Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein
    • DOI 10.1074/jbc.M608168200
    • P Hájek A Chomyn G Attardi 2007 Identification of a novel mitochondrial complex containing mitofusin 2 and stomatin-like protein 2 J Biol Chem 282 5670 5681 17121834 10.1074/jbc.M608168200 (Pubitemid 47093790)
    • (2007) Journal of Biological Chemistry , vol.282 , Issue.8 , pp. 5670-5681
    • Hajek, P.1    Chomyn, A.2    Attardi, G.3
  • 48
    • 0037455575 scopus 로고    scopus 로고
    • Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
    • DOI 10.1083/jcb.200211046
    • H Chen SA Detmer AJ Ewald EE Griffin SE Fraser DC Chan 2003 Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development J Cell Biol 160 189 200 12527753 10.1083/jcb.200211046 1:CAS:528:DC%2BD3sXntVamtQ%3D%3D (Pubitemid 36254953)
    • (2003) Journal of Cell Biology , vol.160 , Issue.2 , pp. 189-200
    • Chen, H.1    Detmer, S.A.2    Ewald, A.J.3    Griffin, E.E.4    Fraser, S.E.5    Chan, D.C.6
  • 49
    • 34547601410 scopus 로고    scopus 로고
    • Mitochondrial Fusion Protects against Neurodegeneration in the Cerebellum
    • DOI 10.1016/j.cell.2007.06.026, PII S0092867407007933
    • H Chen JM McCaffery DC Chan 2007 Mitochondrial fusion protects against neurodegeneration in the cerebellum Cell 130 548 562 17693261 10.1016/j.cell.2007.06.026 1:CAS:528:DC%2BD2sXptlynurY%3D (Pubitemid 47198302)
    • (2007) Cell , vol.130 , Issue.3 , pp. 548-562
    • Chen, H.1    McCaffery, J.M.2    Chan, D.C.3
  • 50
    • 67650868959 scopus 로고    scopus 로고
    • Mitochondrial dynamics in mammalian health and disease
    • 19584314 10.1152/physrev.00030.2008 1:CAS:528:DC%2BD1MXpslyjsLo%3D
    • M Liesa M Palacín A Zorzano 2009 Mitochondrial dynamics in mammalian health and disease Physiol Rev 89 799 845 19584314 10.1152/physrev.00030.2008 1:CAS:528:DC%2BD1MXpslyjsLo%3D
    • (2009) Physiol Rev , vol.89 , pp. 799-845
    • Liesa, M.1    Palacín, M.2    Zorzano, A.3
  • 51
    • 33846952150 scopus 로고    scopus 로고
    • Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations
    • 17296794 10.1083/jcb.200611080 1:CAS:528:DC%2BD2sXhvFCqsbs%3D
    • SA Detmer DC Chan 2007 Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations J Cell Biol 176 405 414 17296794 10.1083/jcb.200611080 1:CAS:528:DC%2BD2sXhvFCqsbs%3D
    • (2007) J Cell Biol , vol.176 , pp. 405-414
    • Detmer, S.A.1    Chan, D.C.2
  • 52
    • 57349100367 scopus 로고    scopus 로고
    • Mitofusin-2 tethers endoplasmic reticulum to mitochondria
    • 19052620 10.1038/nature07534
    • OM de Brito L Scorrano 2008 Mitofusin-2 tethers endoplasmic reticulum to mitochondria Nature 456 605 610 19052620 10.1038/nature07534
    • (2008) Nature , vol.456 , pp. 605-610
    • De Brito, O.M.1    Scorrano, L.2
  • 54
    • 77949801029 scopus 로고    scopus 로고
    • Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex
    • 20335458 10.1523/JNEUROSCI.6248-09.2010 1:CAS:528:DC%2BC3cXlvVagur4%3D
    • A Misko S Jiang I Wegorzeska J Milbrandt RH Baloh 2010 Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex J Neurosci 30 4232 4240 20335458 10.1523/JNEUROSCI.6248-09. 2010 1:CAS:528:DC%2BC3cXlvVagur4%3D
    • (2010) J Neurosci , vol.30 , pp. 4232-4240
    • Misko, A.1    Jiang, S.2    Wegorzeska, I.3    Milbrandt, J.4    Baloh, R.H.5
  • 55
    • 67849111881 scopus 로고    scopus 로고
    • DOGSET: Pre-designed primer sets for fine-scale mapping and DNA sequence interrogation in the dog
    • 19392818 10.1111/j.1365-2052.2009.01875.x 1:CAS:528:DC%2BD1MXhtVaiu7%2FO
    • AK Wong MW Neff 2009 DOGSET: pre-designed primer sets for fine-scale mapping and DNA sequence interrogation in the dog Anim Genet 40 569 571 19392818 10.1111/j.1365-2052.2009.01875.x 1:CAS:528:DC%2BD1MXhtVaiu7%2FO
    • (2009) Anim Genet , vol.40 , pp. 569-571
    • Wong, A.K.1    Neff, M.W.2
  • 56
    • 0037089084 scopus 로고    scopus 로고
    • Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo
    • M Rojo F Legros D Chateau A Lombès 2002 Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo J Cell Sci 115 1663 1674 11950885 1:CAS:528: DC%2BD38XjslWiu70%3D (Pubitemid 34520596)
    • (2002) Journal of Cell Science , vol.115 , Issue.8 , pp. 1663-1674
    • Rojo, M.1    Legros, F.2    Chateau, D.3    Lombes, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.