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Volumn 5, Issue 7, 2016, Pages 908-920

Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: Implications for disease mechanisms and interventions

Author keywords

Mass spectrometry; Metabolomics; Peripheral neuropathy; Sciatic nerve; Spinal cord; TRNA synthetase

Indexed keywords

ASCORBIC ACID; CARNITINE; CARNITINE DERIVATIVE; GLYCINE; LEVACECARNINE;

EID: 84985986991     PISSN: None     EISSN: 20466390     Source Type: Journal    
DOI: 10.1242/bio.019273     Document Type: Article
Times cited : (8)

References (66)
  • 1
    • 70349773389 scopus 로고    scopus 로고
    • An ENUinduced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy
    • Achilli, F., Bros-Facer, V., Williams, H. P., Banks, G. T., AlQatari, M., Chia, R., Tucci, V., Groves, M., Nickols, C. D., Seburn, K. L. et al. (2009). An ENUinduced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy. Dis. Model. Mech. 2, 359-373.
    • (2009) Dis. Model. Mech , vol.2 , pp. 359-373
    • Achilli, F.1    Bros-Facer, V.2    Williams, H.P.3    Banks, G.T.4    AlQatari, M.5    Chia, R.6    Tucci, V.7    Groves, M.8    Nickols, C.D.9    Seburn, K.L.10
  • 2
    • 84926443787 scopus 로고    scopus 로고
    • Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype
    • Adebola, A. A., Di Castri, T., He, C.-Z., Salvatierra, L. A., Zhao, J., Brown, K., Lin, C.-S., Worman, H. J. and Liem, R. K. H. (2015). Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. Hum. Mol. Genet. 24, 2163-2174.
    • (2015) Hum. Mol. Genet , vol.24 , pp. 2163-2174
    • Adebola, A.A.1    Di Castri, T.2    He, C.-Z.3    Salvatierra, L.A.4    Zhao, J.5    Brown, K.6    Lin, C.-S.7    Worman, H.J.8    Liem, R.K.H.9
  • 3
    • 52949118056 scopus 로고    scopus 로고
    • The role of aminoacyl-tRNA synthetases in genetic diseases
    • Antonellis, A. and Green, E. D. (2008). The role of aminoacyl-tRNA synthetases in genetic diseases. Annu. Rev. Genomics Hum. Genet. 9, 87-107.
    • (2008) Annu. Rev. Genomics Hum. Genet. , vol.9 , pp. 87-107
    • Antonellis, A.1    Green, E.D.2
  • 5
    • 81255209222 scopus 로고    scopus 로고
    • A valid mouse model of AGRINassociated congenital myasthenic syndrome
    • Bogdanik, L. P. and Burgess, R. W. (2011). A valid mouse model of AGRINassociated congenital myasthenic syndrome. Hum. Mol. Genet. 20, 4617-4633.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 4617-4633
    • Bogdanik, L.P.1    Burgess, R.W.2
  • 6
    • 77449125821 scopus 로고    scopus 로고
    • Neuromuscular disease models and analysis
    • Burgess, R. W., Cox, G. A. and Seburn, K. L. (2010). Neuromuscular disease models and analysis. Methods Mol. Biol. 602, 347-393.
    • (2010) Methods Mol. Biol. , vol.602 , pp. 347-393
    • Burgess, R.W.1    Cox, G.A.2    Seburn, K.L.3
  • 7
    • 65549159213 scopus 로고    scopus 로고
    • Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: A randomised, double-blind, placebo-controlled, safety and efficacy trial
    • Burns, J., Ouvrier, R. A., Yiu, E. M., Joseph, P. D., Kornberg, A. J., Fahey, M. C. and Ryan, M. M. (2009). Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol. 8, 537-544.
    • (2009) Lancet Neurol , vol.8 , pp. 537-544
    • Burns, J.1    Ouvrier, R.A.2    Yiu, E.M.3    Joseph, P.D.4    Kornberg, A.J.5    Fahey, M.C.6    Ryan, M.M.7
  • 8
    • 84919327424 scopus 로고    scopus 로고
    • Acetyl-L-carnitine (ALCAR) for the prevention of chemotherapy-induced peripheral neuropathy in patients with relapsed or refractory multiple myeloma treated with bortezomib, doxorubicin and low-dose dexamethasone: A study from the Wisconsin Oncology Network. Cancer Chemother
    • Callander, N., Markovina, S., Eickhoff, J., Hutson, P., Campbell, T., Hematti, P., Go, R., Hegeman, R., Longo, W., Williams, E. et al. (2014). Acetyl-L-carnitine (ALCAR) for the prevention of chemotherapy-induced peripheral neuropathy in patients with relapsed or refractory multiple myeloma treated with bortezomib, doxorubicin and low-dose dexamethasone: a study from the Wisconsin Oncology Network. Cancer Chemother. Pharmacol. 74, 875-882.
    • (2014) Pharmacol , vol.74 , pp. 875-882
    • Callander, N.1    Markovina, S.2    Eickhoff, J.3    Hutson, P.4    Campbell, T.5    Hematti, P.6    Go, R.7    Hegeman, R.8    Longo, W.9    Williams, E.10
  • 10
    • 84876985996 scopus 로고    scopus 로고
    • Plasma metabolomics identifies lipid abnormalities linked to markers of inflammation, microbial translocation, and hepatic function in HIV patients receiving protease inhibitors
    • Cassol, E., Misra, V., Holman, A., Kamat, A., Morgello, S. and Gabuzda, D. (2013). Plasma metabolomics identifies lipid abnormalities linked to markers of inflammation, microbial translocation, and hepatic function in HIV patients receiving protease inhibitors. BMC Infect. Dis. 13, 203.
    • (2013) BMC Infect. Dis , vol.13 , pp. 203
    • Cassol, E.1    Misra, V.2    Holman, A.3    Kamat, A.4    Morgello, S.5    Gabuzda, D.6
  • 11
    • 84908256860 scopus 로고    scopus 로고
    • Improving peripheral nerve regeneration: From molecular mechanisms to potential therapeutic targets
    • Chan, K. M., Gordon, T., Zochodne, D. W. and Power, H. A. (2014). Improving peripheral nerve regeneration: from molecular mechanisms to potential therapeutic targets. Exp. Neurol. 261, 826-835.
    • (2014) Exp. Neurol , vol.261 , pp. 826-835
    • Chan, K.M.1    Gordon, T.2    Zochodne, D.W.3    Power, H.A.4
  • 12
    • 84885573583 scopus 로고    scopus 로고
    • Ascorbic acid glucoside reduces neurotoxicity and glutathione depletion in mouse brain induced by nitrotriazole radiosensitazer
    • Cherdyntseva, N. V., Ivanova, A. A., Ivanov, V. V., Cherdyntsev, E., Nair, C. K. and Kagiya, T. V. (2013). Ascorbic acid glucoside reduces neurotoxicity and glutathione depletion in mouse brain induced by nitrotriazole radiosensitazer. J. Cancer Res. Ther. 9, 364-369.
    • (2013) J. Cancer Res. Ther. , vol.9 , pp. 364-369
    • Cherdyntseva, N.V.1    Ivanova, A.A.2    Ivanov3    Cherdyntsev, E.4    Nair, C.K.5    Kagiya, T.V.6
  • 13
    • 35348878570 scopus 로고    scopus 로고
    • Acetyl-Lcarnitine in neuropathic pain: Experimental data
    • discussion 45-46
    • Chiechio, S., Copani, A., Gereau, R. W, IV and Nicoletti, F. (2007). Acetyl-Lcarnitine in neuropathic pain: experimental data. CNS Drugs 21 Suppl. 1, 31-38; discussion 45-46.
    • (2007) CNS Drugs , vol.21 , pp. 31-38
    • Chiechio, S.1    Copani, A.2    Gereau, R.3    Nicoletti, F.4
  • 15
    • 0035093829 scopus 로고    scopus 로고
    • Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
    • Dawkins, J. L., Hulme, D. J., Brahmbhatt, S. B., Auer-Grumbach, M. and Nicholson, G. A. (2001). Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat. Genet. 27, 309-312.
    • (2001) Nat. Genet. , vol.27 , pp. 309-312
    • Dawkins, J.L.1    Hulme, D.J.2    Brahmbhatt, S.B.3    Auer-Grumbach, M.4    Nicholson, G.A.5
  • 16
    • 78649702566 scopus 로고    scopus 로고
    • Organization of GC/MS and LC/MS metabolomics data into chemical libraries
    • DeHaven, C. D., Evans, A. M., Dai, H. and Lawton, K. A. (2010). Organization of GC/MS and LC/MS metabolomics data into chemical libraries. J. Cheminform 2, 9.
    • (2010) J. Cheminform , vol.2 , pp. 9
    • DeHaven, C.D.1    Evans, A.M.2    Dai, H.3    Lawton, K.A.4
  • 17
    • 33745728718 scopus 로고    scopus 로고
    • Probabilistic quotient normalization as robust method to account for dilution of complex biological mixtures
    • Dieterle, F., Ross, A., Schlotterbeck, G. and Senn, H. (2006). Probabilistic quotient normalization as robust method to account for dilution of complex biological mixtures. Application in 1H NMR metabonomics. Anal. Chem. 78, 4281-4290.
    • (2006) Application in 1H NMR metabonomics. Anal. Chem , vol.78 , pp. 4281-4290
    • Dieterle, F.1    Ross, A.2    Schlotterbeck, G.3    Senn, H.4
  • 19
    • 68849083050 scopus 로고    scopus 로고
    • Integrated, nontargeted ultrahigh performance liquid chromatography/ electrospray ionization tandem mass spectrometry platform for the identification and relative quantification of the small-molecule complement of biological systems
    • Evans, A. M., DeHaven, C. D., Barrett, T., Mitchell, M. and Milgram, E. (2009). Integrated, nontargeted ultrahigh performance liquid chromatography/ electrospray ionization tandem mass spectrometry platform for the identification and relative quantification of the small-molecule complement of biological systems. Anal. Chem. 81, 6656-6667.
    • (2009) Anal. Chem. , vol.81 , pp. 6656-6667
    • Evans, A.M.1    DeHaven, C.D.2    Barrett, T.3    Mitchell, M.4    Milgram, E.5
  • 20
    • 0001384888 scopus 로고
    • Fatty acid oxidation by skeletal muscle during rest and activity
    • Fritz, I. B., Davis, D. G., Holtrop, R. H. and Dundee, H. (1958). Fatty acid oxidation by skeletal muscle during rest and activity. Am. J. Physiol. 194, 379-386.
    • (1958) Am. J. Physiol. , vol.194 , pp. 379-386
    • Fritz, I.B.1    Davis, D.G.2    Holtrop, R.H.3    Dundee, H.4
  • 21
    • 50849130623 scopus 로고    scopus 로고
    • Vitamin C is not essential for carnitine biosynthesis in vivo: Verification in vitamin C-depleted senescence marker protein-30/gluconolactonase knockout mice
    • Furusawa, H., Sato, Y., Tanaka, Y., Inai, Y., Amano, A., Iwama, M., Kondo, Y., Handa, S., Murata, A., Nishikimi, M. et al. (2008). Vitamin C is not essential for carnitine biosynthesis in vivo: verification in vitamin C-depleted senescence marker protein-30/gluconolactonase knockout mice. Biol. Pharm. Bull. 31, 1673-1679.
    • (2008) Biol. Pharm. Bull. , vol.31 , pp. 1673-1679
    • Furusawa, H.1    Sato, Y.2    Tanaka, Y.3    Inai, Y.4    Amano, A.5    Iwama, M.6    Kondo, Y.7    Handa, S.8    Murata, A.9    Nishikimi, M.10
  • 24
    • 0036305545 scopus 로고    scopus 로고
    • Systemic acetyl-Lcarnitine eliminates sensory neuronal loss after peripheral axotomy: A new clinical approach in the management of peripheral nerve trauma
    • Hart, A. M., Wiberg, M., Youle, M. and Terenghi, G. (2002). Systemic acetyl-Lcarnitine eliminates sensory neuronal loss after peripheral axotomy: a new clinical approach in the management of peripheral nerve trauma. Exp. Brain Res. 145, 182-189.
    • (2002) Exp. Brain Res , vol.145 , pp. 182-189
    • Hart, A.M.1    Wiberg, M.2    Youle, M.3    Terenghi, G.4
  • 25
    • 84945899837 scopus 로고    scopus 로고
    • CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase
    • He, W., Bai, G., Zhou, H., Wei, N., White, N. M., Lauer, J., Liu, H., Shi, Y., Dumitru, C. D., Lettieri, K. et al. (2015). CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase. Nature 526, 710-714.
    • (2015) Nature , vol.526 , pp. 710-714
    • He, W.1    Bai, G.2    Zhou, H.3    Wei, N.4    White, N.M.5    Lauer, J.6    Liu, H.7    Shi, Y.8    Dumitru, C.D.9    Lettieri, K.10
  • 28
    • 84863187722 scopus 로고    scopus 로고
    • Neurophysiological and morphological responses to treatment with acetyl-L-carnitine in a sciatic nerve injury model: Preliminary data
    • Karsidag, S., Akcal, A., Sahin, S., Karsidag, S., Kabukcuoglu, F. and Ugurlu, K. (2012). Neurophysiological and morphological responses to treatment with acetyl-L-carnitine in a sciatic nerve injury model: preliminary data. J. Hand Surg. Eur. Vol 37, 529-536.
    • (2012) J. Hand Surg. Eur. , vol.37 , pp. 529-536
    • Karsidag, S.1    Akcal, A.2    Sahin, S.3    Karsidag, S.4    Kabukcuoglu, F.5    Ugurlu, K.6
  • 29
    • 56249113343 scopus 로고    scopus 로고
    • Building predictive models in r using the caret package
    • Kuhn, M. (2008). Building predictive models in r using the caret package. J. Stat. Softw. 28, 1-26.
    • (2008) J. Stat. Softw. , vol.28 , pp. 1-26
    • Kuhn, M.1
  • 31
    • 57749195315 scopus 로고    scopus 로고
    • Restoration of vitamin C synthesis in transgenic Gulo-/- mice by helperdependent adenovirus-based expression of gulonolactone oxidase
    • Li, Y., Shi, C.-X., Mossman, K. L., Rosenfeld, J., Boo, Y. C. and Schellhorn, H. E. (2008). Restoration of vitamin C synthesis in transgenic Gulo-/- mice by helperdependent adenovirus-based expression of gulonolactone oxidase. Hum. Gene Ther. 19, 1349-1358.
    • (2008) Hum. Gene Ther. , vol.19 , pp. 1349-1358
    • Li, Y.1    Shi, C.-X.2    Mossman, K.L.3    Rosenfeld, J.4    Boo, Y.C.5    Schellhorn, H.E.6
  • 32
    • 0037133283 scopus 로고    scopus 로고
    • Memory loss in old rats is associated with brain mitochondrial decay and RNA/DNA oxidation: Partial reversal by feeding acetyl-Lcarnitine and/or R-alpha -lipoic acid
    • Liu, J., Head, E., Gharib, A. M., Yuan, W., Ingersoll, R. T., Hagen, T. M., Cotman, C. W. and Ames, B. N. (2002a). Memory loss in old rats is associated with brain mitochondrial decay and RNA/DNA oxidation: partial reversal by feeding acetyl-Lcarnitine and/or R-alpha -lipoic acid. Proc. Natl. Acad. Sci. USA 99, 2356-2361.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 2356-2361
    • Liu, J.1    Head, E.2    Gharib, A.M.3    Yuan, W.4    Ingersoll, R.T.5    Hagen, T.M.6    Cotman, C.W.7    Ames, B.N.8
  • 33
    • 0037133319 scopus 로고    scopus 로고
    • Age-associated mitochondrial oxidative decay: Improvement of carnitine acetyltransferase substrate-binding affinity and activity in brain by feeding old rats acetyl-L- carnitine and/or R-alpha -lipoic acid
    • Liu, J., Killilea, D. W. and Ames, B. N. (2002b). Age-associated mitochondrial oxidative decay: improvement of carnitine acetyltransferase substrate-binding affinity and activity in brain by feeding old rats acetyl-L- carnitine and/or R-alpha -lipoic acid. Proc. Natl. Acad. Sci. USA 99, 1876-1881.
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 1876-1881
    • Liu, J.1    Killilea, D.W.2    Ames, B.N.3
  • 34
    • 10644223303 scopus 로고    scopus 로고
    • Comparison of the effects of L-carnitine and acetyl-L-carnitine on carnitine levels, ambulatory activity, and oxidative stress biomarkers in the brain of old rats
    • Liu, J., Head, E., Kuratsune, H., Cotman, C. W. and Ames, B. N. (2004). Comparison of the effects of L-carnitine and acetyl-L-carnitine on carnitine levels, ambulatory activity, and oxidative stress biomarkers in the brain of old rats. Ann. N Y Acad. Sci. 1033, 117-131.
    • (2004) Ann. N Y Acad. Sci. , vol.1033 , pp. 117-131
    • Liu, J.1    Head, E.2    Kuratsune, H.3    Cotman, C.W.4    Ames, B.N.5
  • 35
    • 67449126840 scopus 로고    scopus 로고
    • Blood serum profiling of the rat spinal nerve ligation model using ultra-performance liquid chromatography-quadrupole timeof-flight mass spectrometry. Eur
    • Mao, Y.-F., Liu, X.-R., Liao, X.-Z., Lv, Y.-H., Xu, H., Deng, X.-M., Yan, S.-K., Xiong, Y.-C. and Zhang, W.-D. (2009). Blood serum profiling of the rat spinal nerve ligation model using ultra-performance liquid chromatography-quadrupole timeof-flight mass spectrometry. Eur. J. Pharmacol. 615, 61-65.
    • (2009) J. Pharmacol. , vol.615 , pp. 61-65
    • Mao, Y.-F.1    Liu, X.-R.2    Liao, X.-Z.3    Lv, Y.-H.4    Xu, H.5    Deng, X.-M.6    Yan, S.-K.7    Xiong, Y.-C.8    Zhang, W.-D.9
  • 38
    • 72149100190 scopus 로고    scopus 로고
    • Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: A multicentre, randomised, double-blind, placebo-controlled trial
    • Micallef, J., Attarian, S., Dubourg, O., Gonnaud, P.-M., Hogrel, J.-Y., Stojkovic, T., Bernard, R., Jouve, E., Pitel, S., Vacherot, F. et al. (2009). Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol. 8, 1103-1110.
    • (2009) Lancet Neurol , vol.8 , pp. 1103-1110
    • Micallef, J.1    Attarian, S.2    Dubourg, O.3    Gonnaud, P.-M.4    Hogrel, J.-Y.5    Stojkovic, T.6    Bernard, R.7    Jouve, E.8    Pitel, S.9    Vacherot, F.10
  • 39
    • 75749132024 scopus 로고    scopus 로고
    • GARS axonopathy: Not every neuron's cup of tRNA
    • Motley, W. W., Talbot, K. and Fischbeck, K. H. (2010). GARS axonopathy: not every neuron's cup of tRNA. Trends Neurosci. 33, 59-66.
    • (2010) Trends Neurosci , vol.33 , pp. 59-66
    • Motley, W.W.1    Talbot, K.2    Fischbeck, K.H.3
  • 42
    • 33845973341 scopus 로고    scopus 로고
    • A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27]
    • Pareyson, D., Schenone, A., Fabrizi, G. M., Santoro, L., Padua, L., Quattrone, A., Vita, G., Gemignani, F., Visioli, F. and Solari, A. (2006). A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27]. Pharmacol. Res. 54, 436-441.
    • (2006) Pharmacol. Res. , vol.54 , pp. 436-441
    • Pareyson, D.1    Schenone, A.2    Fabrizi, G.M.3    Santoro, L.4    Padua, L.5    Quattrone, A.6    Vita, G.7    Gemignani, F.8    Visioli, F.9    Solari, A.10
  • 44
    • 49649110170 scopus 로고    scopus 로고
    • Aminoacyl tRNA synthetases and their connections to disease
    • Park, S. G., Schimmel, P. and Kim, S. (2008). Aminoacyl tRNA synthetases and their connections to disease. Proc. Natl. Acad. Sci. USA 105, 11043-11049.
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , pp. 11043-11049
    • Park, S.G.1    Schimmel, P.2    Kim, S.3
  • 51
    • 52949154680 scopus 로고    scopus 로고
    • Development of tRNA synthetases and connection to genetic code and disease
    • Schimmel, P. (2008). Development of tRNA synthetases and connection to genetic code and disease. Protein Sci. 17, 1643-1652.
    • (2008) Protein Sci , vol.17 , pp. 1643-1652
    • Schimmel, P.1
  • 52
    • 33748545328 scopus 로고    scopus 로고
    • An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model
    • Seburn, K. L., Nangle, L. A., Cox, G. A., Schimmel, P. and Burgess, R. W. (2006). An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. Neuron 51, 715-726.
    • (2006) Neuron , vol.51 , pp. 715-726
    • Seburn, K.L.1    Nangle, L.A.2    Cox, G.A.3    Schimmel, P.4    Burgess, R.W.5
  • 53
    • 84872142834 scopus 로고    scopus 로고
    • Serum bile acid levels as a predictor for the severity of liver fibrosis in patients with chronic hepatitis C
    • Shlomai, A., Halfon, P., Goldiner, I., Zelber-Sagi, S., Halpern, Z., Oren, R. and Bruck, R. (2013). Serum bile acid levels as a predictor for the severity of liver fibrosis in patients with chronic hepatitis C. J. Viral Hepat 20, 95-102.
    • (2013) J. Viral Hepat , vol.20 , pp. 95-102
    • Shlomai, A.1    Halfon, P.2    Goldiner, I.3    Zelber-Sagi, S.4    Halpern, Z.5    Oren, R.6    Bruck, R.7
  • 56
    • 84896133061 scopus 로고    scopus 로고
    • Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice
    • Sleigh, J. N., Grice, S. J., Burgess, R. W., Talbot, K. and Cader, M. Z. (2014). Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice. Hum. Mol. Genet. 23, 2639-2650.
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 2639-2650
    • Sleigh, J.N.1    Grice, S.J.2    Burgess, R.W.3    Talbot, K.4    Cader, M.Z.5
  • 57
    • 84923580226 scopus 로고    scopus 로고
    • Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
    • Sofou, K., Kollberg, G., Holmström, M., Dávila, M., Darin, N., Gustafsson, C. M., Holme, E., Oldfors, A., Tulinius, M. and Asin-Cayuela, J. (2015). Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. Mol. Genet. Genomic. Med. 3, 59-68.
    • (2015) Mol. Genet. Genomic. Med. , vol.3 , pp. 59-68
    • Sofou, K.1    Kollberg, G.2    Holmström, M.3    Dávila, M.4    Darin, N.5    Gustafsson, C.M.6    Holme, E.7    Oldfors, A.8    Tulinius, M.9    Asin-Cayuela, J.10
  • 58
    • 34249847958 scopus 로고    scopus 로고
    • PcaMethods-a bioconductor package providing PCA methods for incomplete data
    • Stacklies, W., Redestig, H., Scholz, M., Walther, D. and Selbig, J. (2007). pcaMethods-a bioconductor package providing PCA methods for incomplete data. Bioinformatics 23, 1164-1167.
    • (2007) Bioinformatics , vol.23 , pp. 1164-1167
    • Stacklies, W.1    Redestig, H.2    Scholz, M.3    Walther, D.4    Selbig, J.5
  • 59
    • 84893146010 scopus 로고    scopus 로고
    • Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success
    • Timmerman, V., Strickland, A. V. and Züchner, S. (2014). Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success. Genes 5, 13-32.
    • (2014) Genes , vol.5 , pp. 13-32
    • Timmerman, V.1    Strickland, A.V.2    Züchner, S.3
  • 60
    • 33747019547 scopus 로고    scopus 로고
    • Centering, scaling, and transformations: Improving the biological information content of metabolomics data
    • van den Berg, R. A., Hoefsloot, H. C., Westerhuis, J. A., Smilde, A. K. and van der Werf, M. J. (2006). Centering, scaling, and transformations: improving the biological information content of metabolomics data. BMC Genomics 7, 142.
    • (2006) BMC Genomics , vol.7 , pp. 142
    • Van Den Berg, R.A.1    Hoefsloot, H.C.2    Westerhuis, J.A.3    Smilde, A.K.4    Van Der Werf, M.J.5
  • 62
    • 71049172916 scopus 로고    scopus 로고
    • Oral high dose ascorbic acid treatment for one year in young CMT1A patients: A randomised, double-blind, placebo-controlled phase II trial
    • Verhamme, C., de Haan, R. J., Vermeulen, M., Baas, F., de Visser, M. and van Schaik, I. N. (2009). Oral high dose ascorbic acid treatment for one year in young CMT1A patients: A randomised, double-blind, placebo-controlled phase II trial. BMC Med. 7, 70.
    • (2009) BMC Med. , vol.7 , pp. 70
    • Verhamme, C.1    De Haan, R.J.2    Vermeulen, M.3    Baas, F.4    De Visser, M.5    Van Schaik, I.N.6
  • 63
    • 84871608495 scopus 로고    scopus 로고
    • A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
    • Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Roda, R. H., Fischbeck, K. H. et al.
    • Vester, A., Velez-Ruiz, G., McLaughlin, H. M., NISC Comparative Sequencing Program, Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Roda, R. H., Fischbeck, K. H. et al. (2013). A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum. Mutat. 34, 191-199.
    • (2013) Hum. Mutat. , vol.34 , pp. 191-199
    • NISC Comparative Sequencing Program1    Vester, A.2    Velez-Ruiz, G.3    McLaughlin, H.M.4
  • 64
    • 67849106535 scopus 로고    scopus 로고
    • MetaboAnalyst: A web server for metabolomic data analysis and interpretation
    • Xia, J., Psychogios, N., Young, N. and Wishart, D. S. (2009). MetaboAnalyst: a web server for metabolomic data analysis and interpretation. Nucleic Acids Res. 37, W652-W660.
    • (2009) Nucleic Acids Res , vol.37 , pp. W652-W660
    • Xia, J.1    Psychogios, N.2    Young, N.3    Wishart, D.S.4
  • 65
  • 66
    • 0031263931 scopus 로고    scopus 로고
    • Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
    • Zhu, Q., Couillard-Despreœ, S. and Julien, J.-P. (1997). Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp. Neurol. 148, 299-316.
    • (1997) Exp. Neurol. , vol.148 , pp. 299-316
    • Zhu, Q.1    Couillard-Despreœ, S.2    Julien, J.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.