메뉴 건너뛰기




Volumn 20, Issue 18, 2011, Pages 3642-3652

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; UNCLASSIFIED DRUG; VAMP ASSOCIATED PROTEIN B;

EID: 80052225992     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr284     Document Type: Article
Times cited : (186)

References (55)
  • 1
    • 33745223900 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis (motor neuron disease): proposed mechanisms and pathways to treatment
    • Goodall, E.F. and Morrison, K.E. (2006) Amyotrophic lateral sclerosis (motor neuron disease): proposed mechanisms and pathways to treatment. Expert. Rev. Mol. Med., 8, 1-22.
    • (2006) Expert. Rev. Mol. Med. , vol.8 , pp. 1-22
    • Goodall, E.F.1    Morrison, K.E.2
  • 2
    • 0035978743 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis
    • Rowland, L.P. and Shneider, N.A. (2001) Amyotrophic lateral sclerosis. N. Engl. J. Med., 344, 1688-1700.
    • (2001) N. Engl. J. Med. , vol.344 , pp. 1688-1700
    • Rowland, L.P.1    Shneider, N.A.2
  • 3
    • 61549122708 scopus 로고    scopus 로고
    • Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives
    • Beleza-Meireles, A. and Al-Chalabi, A. (2009) Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives. Amyotroph. Lateral Scler., 10, 1-14.
    • (2009) Amyotroph. Lateral Scler. , vol.10 , pp. 1-14
    • Beleza-Meireles, A.1    Al-Chalabi, A.2
  • 4
    • 33747605320 scopus 로고    scopus 로고
    • Molecular biology of amyotrophic lateral sclerosis: insights from genetics
    • Pasinelli, P. and Brown, R.H. (2006) Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat. Rev. Neuron., 7, 710-723.
    • (2006) Nat. Rev. Neuron. , vol.7 , pp. 710-723
    • Pasinelli, P.1    Brown, R.H.2
  • 12
    • 1942533604 scopus 로고    scopus 로고
    • A novel locus for a late onset amyotrophic lateral sclrerosis/motor neuron disease (ALS/MND) variant at 20q13
    • Nishimura, A.L., Mitne-Neto, M., Silva, H.C.A., Oliveira, J.R.M., Vainzof, M. and Zatz, M. (2004) A novel locus for a late onset amyotrophic lateral sclrerosis/motor neuron disease (ALS/MND) variant at 20q13. J. Med. Genet., 41, 315-320.
    • (2004) J. Med. Genet. , vol.41 , pp. 315-320
    • Nishimura, A.L.1    Mitne-Neto, M.2    Silva, H.C.A.3    Oliveira, J.R.M.4    Vainzof, M.5    Zatz, M.6
  • 13
    • 30744469869 scopus 로고    scopus 로고
    • A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population
    • Nishimura, A.L., Al-Chalabi, A. and Zatz, M. (2007) A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum. Genet., 118, 499-500.
    • (2007) Hum. Genet. , vol.118 , pp. 499-500
    • Nishimura, A.L.1    Al-Chalabi, A.2    Zatz, M.3
  • 17
    • 41649112488 scopus 로고    scopus 로고
    • VAPB: new genetic clues to the pathogenesis of ALS
    • Hirano, M. (2008) VAPB: new genetic clues to the pathogenesis of ALS. Neurology, 70, 1161-1162.
    • (2008) Neurology , vol.70 , pp. 1161-1162
    • Hirano, M.1
  • 19
    • 0032528227 scopus 로고    scopus 로고
    • Identification of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP
    • Weir, M.L., Klip, A. and Trimble, W.S. (1998) Identification of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP. Biochem. J., 333, 247-251.
    • (1998) Biochem. J. , vol.333 , pp. 247-251
    • Weir, M.L.1    Klip, A.2    Trimble, W.S.3
  • 20
    • 0033534788 scopus 로고    scopus 로고
    • Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins
    • Nishimura, Y., Hayashi, M., Inada, H. and Tanaka, T. (1999) Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins. Biochem. Biophys. Res. Commun., 254, 21-26.
    • (1999) Biochem. Biophys. Res. Commun. , vol.254 , pp. 21-26
    • Nishimura, Y.1    Hayashi, M.2    Inada, H.3    Tanaka, T.4
  • 21
    • 48449098142 scopus 로고    scopus 로고
    • A Drosophila model of ALS: human ALS-associated mutation in VAP33A suggests a dominant negative mechanism
    • Ratnaparkhi, A., Lawless, G.M., Schweizer, F.E., Golshani, P. and Jackson, G.R. (2008) A Drosophila model of ALS: human ALS-associated mutation in VAP33A suggests a dominant negative mechanism. PLoS ONE, 3, e2334.
    • (2008) PLoS ONE , vol.3
    • Ratnaparkhi, A.1    Lawless, G.M.2    Schweizer, F.E.3    Golshani, P.4    Jackson, G.R.5
  • 23
    • 0033967492 scopus 로고    scopus 로고
    • Mouse VAP33 is associated with the endoplasmic reticulum and microtubules
    • Skehel, P., Fabian-Fine, R. and Kandel, E. (2000) Mouse VAP33 is associated with the endoplasmic reticulum and microtubules. Proc. Natl Acad. Sci. USA, 97, 1101-1106.
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 1101-1106
    • Skehel, P.1    Fabian-Fine, R.2    Kandel, E.3
  • 24
    • 44649186815 scopus 로고    scopus 로고
    • The VAP protein family: from cellular functions to motor neuron disease
    • Lev, S., Halevy, D.B., Peretti, D. and Dahan, N. (2008) The VAP protein family: from cellular functions to motor neuron disease. Trends Cell Biol., 18, 282-290.
    • (2008) Trends Cell Biol. , vol.18 , pp. 282-290
    • Lev, S.1    Halevy, D.B.2    Peretti, D.3    Dahan, N.4
  • 28
    • 79551584057 scopus 로고    scopus 로고
    • The unfolded protein response in familial amyotrophic lateral sclerosis
    • Wang, L., Popko, B. and Roos, R.P. (2011) The unfolded protein response in familial amyotrophic lateral sclerosis. Hum. Mol. Genet., 20, 1008-1015.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1008-1015
    • Wang, L.1    Popko, B.2    Roos, R.P.3
  • 29
    • 34848904785 scopus 로고    scopus 로고
    • Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates
    • Teuling, E., Ahmed, S., Haasdijk, E., Demmers, J., Steinmetz, M.O., Akhmanova, A., Jaarsma, D. and Hoogenraad, C.C. (2007) Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates. J. Neurosci., 27, 9801-9815.
    • (2007) J. Neurosci. , vol.27 , pp. 9801-9815
    • Teuling, E.1    Ahmed, S.2    Haasdijk, E.3    Demmers, J.4    Steinmetz, M.O.5    Akhmanova, A.6    Jaarsma, D.7    Hoogenraad, C.C.8
  • 31
    • 36248966518 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from adult human fibroblasts by defined factors
    • Takahashi, K., Tanabe, K., Ohnuki, M., Narita, M., Ichisaka, T., Tomoda, K. and Yamanaka, S. (2007) Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell, 13, 861-872.
    • (2007) Cell , vol.13 , pp. 861-872
    • Takahashi, K.1    Tanabe, K.2    Ohnuki, M.3    Narita, M.4    Ichisaka, T.5    Tomoda, K.6    Yamanaka, S.7
  • 32
    • 78149488365 scopus 로고    scopus 로고
    • A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
    • Marchetto, M.C., Carromeu, C., Acab, A., Yu, D., Yeo, G.W., Mu, Y., Chen, G., Gage, F.H. and Muotri, A.R. (2010) A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell, 143, 527-539.
    • (2010) Cell , vol.143 , pp. 527-539
    • Marchetto, M.C.1    Carromeu, C.2    Acab, A.3    Yu, D.4    Yeo, G.W.5    Mu, Y.6    Chen, G.7    Gage, F.H.8    Muotri, A.R.9
  • 33
    • 56549115885 scopus 로고    scopus 로고
    • Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells
    • Marchetto, M.C., Muotri, A.R., Mu, Y., Smith, A.M., Cezar, G.G. and Gage, F.H. (2008) Non-cell-autonomous effect of human SOD1 G37R astrocytes on motor neurons derived from human embryonic stem cells. Cell Stem Cell, 3, 649-657.
    • (2008) Cell Stem Cell , vol.3 , pp. 649-657
    • Marchetto, M.C.1    Muotri, A.R.2    Mu, Y.3    Smith, A.M.4    Cezar, G.G.5    Gage, F.H.6
  • 34
    • 33749554133 scopus 로고    scopus 로고
    • Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8)
    • Kanekura, K., Nishimoto, I., Aiso, S. and Matsuoka, M. (2006) Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). J. Biol. Chem., 28, 30223-30232.
    • (2006) J. Biol. Chem. , vol.28 , pp. 30223-30232
    • Kanekura, K.1    Nishimoto, I.2    Aiso, S.3    Matsuoka, M.4
  • 35
    • 55049136297 scopus 로고    scopus 로고
    • FFAT rescues APA-mediated inhibition of ER-to-Golgi transport and VAPB-mediated ER aggregation
    • Prosser, D.C., Tran, D., Gougeon, P.Y., Verly, C. and Ngsee, J.K. (2008) FFAT rescues APA-mediated inhibition of ER-to-Golgi transport and VAPB-mediated ER aggregation. J. Cell Sci., 12, 3052-3061.
    • (2008) J. Cell Sci. , vol.12 , pp. 3052-3061
    • Prosser, D.C.1    Tran, D.2    Gougeon, P.Y.3    Verly, C.4    Ngsee, J.K.5
  • 36
    • 58549088349 scopus 로고    scopus 로고
    • ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB
    • Suzuki, H., Kanekura, K., Levine, T.P., Kohno, K., Olkkonen, V.M., Aiso, S. and Matsuoka, M. (2009) ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB. J. Neurochem., 108, 973-985.
    • (2009) J. Neurochem. , vol.108 , pp. 973-985
    • Suzuki, H.1    Kanekura, K.2    Levine, T.P.3    Kohno, K.4    Olkkonen, V.M.5    Aiso, S.6    Matsuoka, M.7
  • 37
    • 77952308995 scopus 로고    scopus 로고
    • A VAPB mutant linked to amyotrophic lateral sclerosis generates a novel form of organized smooth endoplasmic reticulum
    • Fasana, E., Fossati, M., Ruggiano, A., Brambillasca, S., Hoogenraad, C.C., Navone, F., Francolini, M. and Borgese, N. (2010) A VAPB mutant linked to amyotrophic lateral sclerosis generates a novel form of organized smooth endoplasmic reticulum. FASEB, 24, 1419-1430.
    • (2010) FASEB , vol.24 , pp. 1419-1430
    • Fasana, E.1    Fossati, M.2    Ruggiano, A.3    Brambillasca, S.4    Hoogenraad, C.C.5    Navone, F.6    Francolini, M.7    Borgese, N.8
  • 38
    • 77951559589 scopus 로고    scopus 로고
    • Structural requirements for VAP-B oligomerization and their implication in amyotrophic lateral sclerosis-associated
    • Kim, S., Leal, S., Halevy, D.B., Gomes, M. and Lev, S. (2010) Structural requirements for VAP-B oligomerization and their implication in amyotrophic lateral sclerosis-associated. J. Biol. Chem., 285, 13839-13849.
    • (2010) J. Biol. Chem. , vol.285 , pp. 13839-13849
    • Kim, S.1    Leal, S.2    Halevy, D.B.3    Gomes, M.4    Lev, S.5
  • 39
    • 37849053294 scopus 로고    scopus 로고
    • hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction
    • Chai, A., Withers, J., Koh, Y.H., Parry, K., Bao, H., Zhang, B., Budnik, V. and Pennetta, G. (2008) hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction. Hum. Mol. Genet., 17, 266-280.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 266-280
    • Chai, A.1    Withers, J.2    Koh, Y.H.3    Parry, K.4    Bao, H.5    Zhang, B.6    Budnik, V.7    Pennetta, G.8
  • 40
    • 77951298381 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein- associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology
    • Tudor, E.L., Galtrey, C.M., Perkinton, M.S., Lau, K.F., De Vos, K.J., Mitchell, J.C., Ackerley, S., Hortobágyi, T., Vámos, E., Leigh, P.N. et al. (2010) Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein- associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology. Neuroscience, 167, 774-785.
    • (2010) Neuroscience , vol.167 , pp. 774-785
    • Tudor, E.L.1    Galtrey, C.M.2    Perkinton, M.S.3    Lau, K.F.4    De Vos, K.J.5    Mitchell, J.C.6    Ackerley, S.7    Hortobágyi, T.8    Vámos, E.9    Leigh, P.N.10
  • 41
    • 33748075461 scopus 로고    scopus 로고
    • Proteasome inhibitor drugs on the rise
    • Joazeiro, C.A.P., Anderson, K.C. and Hunter, T. (2006) Proteasome inhibitor drugs on the rise. Cancer Res., 16, 7840-7842.
    • (2006) Cancer Res. , vol.16 , pp. 7840-7842
    • Joazeiro, C.A.P.1    Anderson, K.C.2    Hunter, T.3
  • 43
    • 68149100027 scopus 로고    scopus 로고
    • Treatment with lithium carbonate does not improve disease progression in two different strains of SOD1 mutant mice
    • Pizzasegola, C., Caron, I., Daleno, C., Ronchi, A., Minoia, C., Carrì, M.T. and Bendotti, C. (2009) Treatment with lithium carbonate does not improve disease progression in two different strains of SOD1 mutant mice. Amyotroph. Lateral Scler., 10, 221-228.
    • (2009) Amyotroph. Lateral Scler. , vol.10 , pp. 221-228
    • Pizzasegola, C.1    Caron, I.2    Daleno, C.3    Ronchi, A.4    Minoia, C.5    Carrì, M.T.6    Bendotti, C.7
  • 46
    • 62149141328 scopus 로고    scopus 로고
    • Rethinking ALS: the FUS about TDP-43
    • Lagier-Tourenne, C. and Cleveland, D.W. (2009) Rethinking ALS: the FUS about TDP-43. Cell, 136, 1001-1004.
    • (2009) Cell , vol.136 , pp. 1001-1004
    • Lagier-Tourenne, C.1    Cleveland, D.W.2
  • 47
    • 73249152831 scopus 로고    scopus 로고
    • TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration
    • Wegorzewska, I., Bell, S., Cairns, N.J., Miller, T.M. and Baloh, R.H. (2009) TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. Proc. Natl Acad. Sci. USA, 106, 18809-18814.
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 18809-18814
    • Wegorzewska, I.1    Bell, S.2    Cairns, N.J.3    Miller, T.M.4    Baloh, R.H.5
  • 50
    • 0037130456 scopus 로고    scopus 로고
    • Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner
    • Pennetta, G., Hiesinger, P.R., Fabian-Fine, R., Meinertzhagen, I.A. and Bellen, H.J. (2002) Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner. Neuron, 35, 291-306.
    • (2002) Neuron , vol.35 , pp. 291-306
    • Pennetta, G.1    Hiesinger, P.R.2    Fabian-Fine, R.3    Meinertzhagen, I.A.4    Bellen, H.J.5
  • 51
    • 77951902249 scopus 로고    scopus 로고
    • Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis
    • Shi, J., Lua, S., Tong, J.S. and Song, J. (2010) Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis. Biochemistry, 49, 3887-3897.
    • (2010) Biochemistry , vol.49 , pp. 3887-3897
    • Shi, J.1    Lua, S.2    Tong, J.S.3    Song, J.4
  • 52
    • 77951238114 scopus 로고    scopus 로고
    • Electrostatic interaction between oxysterol-binding protein and VAMP-associated protein A revealed by NMR and mutagenesis studies
    • Furuita, K., Jee, J., Fukada, H., Mishima, M. and Kojima, C. (2010) Electrostatic interaction between oxysterol-binding protein and VAMP-associated protein A revealed by NMR and mutagenesis studies. J. Biol. Chem., 285, 12961-12970.
    • (2010) J. Biol. Chem. , vol.285 , pp. 12961-12970
    • Furuita, K.1    Jee, J.2    Fukada, H.3    Mishima, M.4    Kojima, C.5
  • 53
    • 79953681024 scopus 로고    scopus 로고
    • The ALS8-associated mutant VAPB(P56S) is resistant to proteolysis in neurons
    • doi: 10.1111/j.1471-4159.2011.07201
    • Gkogkas, C., Wardrope, C., Hannah, M. and Skehel, P. (2011) The ALS8-associated mutant VAPB(P56S) is resistant to proteolysis in neurons. J. Neurochem. doi: 10.1111/j.1471-4159.2011.07201.
    • (2011) J. Neurochem.
    • Gkogkas, C.1    Wardrope, C.2    Hannah, M.3    Skehel, P.4
  • 54
    • 77953879152 scopus 로고    scopus 로고
    • Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases
    • Marchetto, M.C.N., Winner, B. and Gage, F.H. (2010) Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases. Hum. Mol. Genet., 19, R71-R76.
    • (2010) Hum. Mol. Genet. , vol.19
    • Marchetto, M.C.N.1    Winner, B.2    Gage, F.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.