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Volumn 22, Issue 12, 2013, Pages 2350-2360

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

(19)  Kabashi, Edor a,b   El Oussini, Hajer c,d   Bercier, Valérie a   Gros Louis, François b   Valdmanis, Paul N b   Mcdearmid, Jonathan e   Mejier, Inge A b   Dion, Patrick A b,f   Dupre, Nicolas g   Hollinger, David c,d   Sinniger, Jérome c,d   Dirrig Grosch, Sylvie c,d   Camu, William h   Meininger, Vincent i,j   Loeffler, Jean Philippe c,d   René, Frédérique c,d   Drapeau, Pierre f   Rouleau, Guy A b,f   Dupuis, Luc c,d  

c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALS8 GENE; AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; GENE; GENE EXPRESSION; LOSS OF FUNCTION MUTATION; MOTONEURON; MOUSE; NERVE DEGENERATION; NEUROMUSCULAR SYNAPSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; VESICLE ASSOCIATED MEMBRANE PROTEIN ASSOCIATED PROTEIN B GENE; ZEBRA FISH;

EID: 84878487878     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt080     Document Type: Article
Times cited : (71)

References (44)
  • 3
    • 33751250197 scopus 로고    scopus 로고
    • Genetics of familial and sporadic amyotrophic lateral sclerosis
    • Gros-Louis, F., Gaspar, C. and Rouleau, G.A. (2006) Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochim. Biophys. Acta, 1762, 956-972.
    • (2006) Biochim. Biophys. Acta , vol.1762 , pp. 956-972
    • Gros-louis, F.1    Gaspar, C.2    Rouleau, G.A.3
  • 6
    • 67649600680 scopus 로고    scopus 로고
    • Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning
    • Rocha, N., Kuijl, C., van der Kant, R., Janssen, L., Houben, D., Janssen, H., Zwart, W. and Neefjes, J. (2009) Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning. J. Cell Biol., 185, 1209-1225.
    • (2009) J. Cell Biol. , vol.185 , pp. 1209-1225
    • Rocha, N.1    Kuijl, C.2    van der Kant, R.3    Janssen, L.4    Houben, D.5    Janssen, H.6    Zwart, W.7    Neefjes, J.8
  • 8
    • 33749554133 scopus 로고    scopus 로고
    • Characterization of amyotrophic lateral sclerosis-linked pro56ser 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 pro56ser mutation of vesicle-associated membrane protein-associated protein B (VAPB/ ALS8). J. Biol. Chem., 281, 30223-30233.
    • (2006) J. Biol. Chem. , vol.281 , pp. 30223-30233
    • Kanekura, K.1    Nishimoto, I.2    Aiso, S.3    Matsuoka, M.4
  • 9
    • 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
  • 10
    • 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
  • 11
    • 84871719263 scopus 로고    scopus 로고
    • Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice
    • Qiu, L., Qiao, T., Beers, M., Tan, W., Wang, H., Yang, B. and Xu, Z. (2013) Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice. Mol. Neurodegener., 8, 1.
    • (2013) Mol. Neurodegener., , vol.8 , Issue.1
    • Qiu, L.1    Qiao, T.2    Beers, M.3    Tan, W.4    Wang, H.5    Yang, B.6    Xu, Z.7
  • 12
    • 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., Hortobagyi, T., Vamos, 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    Hortobagyi, T.8    Vamos, E.9    Leigh, P.N.10
  • 17
    • 77954324616 scopus 로고    scopus 로고
    • AAV-mediated expression of wild-type and ALS-linked mutant VAPB selectively triggers death of motoneurons through a Ca2+-dependent ER-associated pathway
    • Langou, K., Moumen, A., Pellegrino, C., Aebischer, J., Medina, I., Aebischer, P. and Raoul, C. (2010) AAV-mediated expression of wild-type and ALS-linked mutant VAPB selectively triggers death of motoneurons through a Ca2+-dependent ER-associated pathway. J. Neurochem., 114, 795-809.
    • (2010) J. Neurochem., , vol.114 , pp. 795-809
    • Langou, K.1    Moumen, A.2    Pellegrino, C.3    Aebischer, J.4    Medina, I.5    Aebischer, P.6    Raoul, C.7
  • 18
    • 67349164383 scopus 로고    scopus 로고
    • A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice
    • Saxena, S., Cabuy, E. and Caroni, P. (2009) A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice. Nat. Neurosci., 12, 627-636.
    • (2009) Nat. Neurosci. , vol.12 , pp. 627-636
    • Saxena, S.1    Cabuy, E.2    Caroni, P.3
  • 22
    • 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. (2005) A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum. Genet., 118, 499-500.
    • (2005) Hum. Genet., , vol.118 , pp. 499-500
    • Nishimura, A.L.1    Al-chalabi, A.2    Zatz, M.3
  • 23
  • 26
    • 43449099127 scopus 로고    scopus 로고
    • The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors
    • Tsuda, H., Han, S.M., Yang, Y., Tong, C., Lin, Y.Q., Mohan, K., Haueter, C., Zoghbi, A., Harati, Y., Kwan, J. et al. (2008) The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors. Cell, 133, 963-977.
    • (2008) Cell, , vol.133 , pp. 963-977
    • Tsuda, H.1    Han, S.M.2    Yang, Y.3    Tong, C.4    Lin, Y.Q.5    Mohan, K.6    Haueter, C.7    Zoghbi, A.8    Harati, Y.9    Kwan, J.10
  • 27
    • 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
  • 28
    • 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
  • 29
    • 84862777321 scopus 로고    scopus 로고
    • Secreted VAPB/ ALS8 major sperm protein domains modulate mitochondrial localization and morphology via growth cone guidance receptors
    • Han, S.M., Tsuda, H., Yang, Y., Vibbert, J., Cottee, P., Lee, S.J., Winek, J., Haueter, C., Bellen, H.J. and Miller, M.A. (2012) Secreted VAPB/ ALS8 major sperm protein domains modulate mitochondrial localization and morphology via growth cone guidance receptors. Dev. Cell, 22, 348-362.
    • (2012) Dev. Cell, , vol.22 , pp. 348-362
    • Han, S.M.1    Tsuda, H.2    Yang, Y.3    Vibbert, J.4    Cottee, P.5    Lee, S.J.6    Winek, J.7    Haueter, C.8    Bellen, H.J.9    Miller, M.A.10
  • 31
    • 65949094823 scopus 로고    scopus 로고
    • Neuromuscular junction destruction during amyotrophic lateral sclerosis: insights from transgenic models
    • Dupuis, L. and Loeffler, J.P. (2009) Neuromuscular junction destruction during amyotrophic lateral sclerosis: insights from transgenic models. Curr. Opin. Pharmacol., 9, 341-346.
    • (2009) Curr. Opin. Pharmacol. , vol.9 , pp. 341-346
    • Dupuis, L.1    Loeffler, J.P.2
  • 35
    • 37849043062 scopus 로고    scopus 로고
    • Genetics of familial amyotrophic lateral sclerosis
    • Valdmanis, P.N. and Rouleau, G.A. (2008) Genetics of familial amyotrophic lateral sclerosis. Neurology, 70, 144-152.
    • (2008) Neurology , vol.70 , pp. 144-152
    • Valdmanis, P.N.1    Rouleau, G.A.2
  • 37
    • 0033230795 scopus 로고    scopus 로고
    • Rapid detection of CYP1A1, CYP2D6, and NAT variants by multiplex polymerase chain reaction and allele-specific oligonucleotide assay
    • Labuda, D., Krajinovic, M., Richer, C., Skoll, A., Sinnett, H., Yotova, V. and Sinnett, D. (1999) Rapid detection of CYP1A1, CYP2D6, and NAT variants by multiplex polymerase chain reaction and allele-specific oligonucleotide assay. Anal. Biochem., 275, 84-92.
    • (1999) Anal. Biochem., , vol.275 , pp. 84-92
    • Labuda, D.1    Krajinovic, M.2    Richer, C.3    Skoll, A.4    Sinnett, H.5    Yotova, V.6    Sinnett, D.7
  • 38
    • 0346992124 scopus 로고    scopus 로고
    • Dynamic allele-specific oligonucleotide hybridization on solid support
    • Bourgeois, S. and Labuda, D. (2004) Dynamic allele-specific oligonucleotide hybridization on solid support. Anal. Biochem., 324, 309-311.
    • (2004) Anal. Biochem., , vol.324 , pp. 309-311
    • Bourgeois, S.1    Labuda, D.2
  • 40
    • 0031255352 scopus 로고    scopus 로고
    • Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment
    • Rogers, D.C., Fisher, E.M., Brown, S.D., Peters, J., Hunter, A.J. and Martin, J.E. (1997) Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment. Mamm. Genome, 8, 711-713.
    • (1997) Mamm. Genome, , vol.8 , pp. 711-713
    • Rogers, D.C.1    Fisher, E.M.2    Brown, S.D.3    Peters, J.4    Hunter, A.J.5    Martin, J.E.6
  • 44
    • 0037129827 scopus 로고    scopus 로고
    • Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
    • research0034.0031-0034.0011.
    • Vandesompele, J., De Preter, K., Pattyn, F., Poppe, B., Van Roy, N., De Paepe, A. and Speleman, F. (2002) Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol., 3, research0034.0031-0034.0011.
    • (2002) Genome Biol., , vol.3
    • Vandesompele, J.1    De Preter, K.2    Pattyn, F.3    Poppe, B.4    Van Roy, N.5    De Paepe, A.6    Speleman, F.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.