Stem cell-derived neurotrophic support for the neuromuscular junction in spinal muscular atrophy

Bibliography

• Feldkotter M, Schwarzer V, Wirth R, Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70(2):10
   Google Scholar
• Baumer D, Lee S, Nicholson G, Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet 2009;5(12):e1000773
   PubMed Web of Science ®Google Scholar
• Lefebvre S, Burglen L, Reboullet S, Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80(1):10
   Google Scholar
• Lorson CL, Rindt H, Shababi M. Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet 2010;19(R1):R111-18
   PubMed Web of Science ®Google Scholar
• Kariya S, Park G-H, Maeno-Hikichi Y, Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 2008;17(16):2552-69
   PubMed Web of Science ®Google Scholar
• Sakla M, Lorson C. Induction of full-length survival motor neuron by polyphenol botanical compounds. Hum Genet 2008;122(6):635-43
   PubMed Web of Science ®Google Scholar
• Monani UR, Coovert DD, Burghes AHM. Animal models of spinal muscular atrophy. Hum Mol Genet 2000;9(16):2451-7
   PubMed Web of Science ®Google Scholar
• Missias AC, Chu GC, Klocke BJ, Maturation of the acetylcholine receptor in skeletal muscle: regulation of the AChR [gamma]-to-[epsilon] switch. Dev Biol 1996;179(1):223-38
   PubMed Web of Science ®Google Scholar
• Kues WA, Brenner HR, Sakmann B, Witzemann V. Local neurotrophic repression of gene transcripts encoding fetal AChRs at rat neuromuscular synapses. J Cell Biol 1995;130(4):8
   Google Scholar
• Rossi SL, Nistor G, Wyatt T, Histological and functional benefit following transplantation of motor neuron progenitors to the injured rat spinal cord. PLoS ONE 2010;5(7):e11852
   PubMed Web of Science ®Google Scholar
• Wu H, Xiong WC, Mei L. To build a synapse: signaling pathways in neuromuscular junction assembly. Development 2010;137:1017-33
   PubMed Web of Science ®Google Scholar
• Witzemann V. Development of the neuromuscular junction. Cell Tissue Res 2006;326(2):8
   Google Scholar
• Yumoto N, Wakatsuki S, Sehara-Fujisawa A. The acetylcholine receptor [gamma]-to-[epsilon] switch occurs in individual endplates. Biochem Biophys Res Commun 2005;331(4):1522-7
   PubMed Web of Science ®Google Scholar
• Koh S, Kim KS, Choi MR, Implantation of human umbilical cord-derived mesenchymal stem cells as a neuroprotective therapy for ischemic stroke in rats. Brain Res 2008;1229:233-48
   PubMed Web of Science ®Google Scholar
• Keller-Peck CR, Walsh MK, Gan WB, Asynchronous synapse elimination in neonatal motor units: studies using GFP transgenic mice. Neuron 2001;31:13
   PubMed Web of Science ®Google Scholar
• Balice-Gordon RJ, Lichtman JW. In vivo obsevations of pre- and postsynaptic changes during the transition from multiple to single innervation at developing neuromuscular junctions. J Neurosci 1993;13:21
   Google Scholar
• Arnold A, Gueye M, Guettier-Sigrist S, Reduced expression of nicotinic AChRs in myotubes from spinal muscular atrophy I patients. Nature 2004;84(10):7
   Google Scholar
• Murray LM, Comley LH, Thomson D, Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 2008;17(7):949-62
   PubMed Web of Science ®Google Scholar
• Monani UR. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron 2005;48(6):885-95
   PubMed Web of Science ®Google Scholar
• Witzemann V, Schwarz H, Koenen M, Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice. Proc Natl Acad Sci USA 1996;93:5
   Web of Science ®Google Scholar
• Burghes AHBC. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci 2009;10(8):12
   Google Scholar
• Corti S, Nizzardo M, Nardini M, Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain 2010;133(2):465-81
   PubMed Web of Science ®Google Scholar
• Karumbayaram S, Kelly TK, Paucar AA, Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS. Dis Model Mechanobiol 2009;2:6
   Google Scholar
• Wada T, Honda M, Minami I, Highly efficient differentiation and enrichment of spinal motor neurons derived from human and monkey embryonic stem cells. PLoS One 2009;4(8):e6722
   PubMed Web of Science ®Google Scholar
• Li XJ, Du ZW, Zarnowska ED, Specification of motoneurons from human embryonic stem cells. Nat Biotechnol 2005;23:6
   PubMed Web of Science ®Google Scholar
• Roy NS, Nakano T, Xuing L, Enhancer-specified GFP-based FACS purification of human spinal motor neurons from embryonic stem cells. Exp Neurol 2005;196:10
   Google Scholar
• Lindvall O, Kokaia Z. Stem cells in human neurodegenerative disorders‚ Ai time for clinical translation? J Clin Invest 2010;120(1):29-40
   PubMed Web of Science ®Google Scholar
• Amariglio NHA, Scheithauer BW, Cohen Y, Donor-derived brain tumor following neural stem cell transplantation in an ataxia telangiectasia patient. PLoS Med 2009;6(2):e1000029
   PubMedGoogle Scholar
• Keirstead HS, Nistor G, Bernal G, Human embryonic stem cell-derived oligodendrocyte progenitor cell transplants remyelinate and restore locomotion after spinal cord injury. J Neurosci 2005;25(19):4694-705
   PubMed Web of Science ®Google Scholar
• Deshpande DMKY, Martinez T, Carmen J, Recovery from paralysis in adult rats using embryonic stem cells. Ann Neurol 2006;60(1):12
   PubMedGoogle Scholar
• Li Y, Chen J, Chen XG, Human marrow stromal cell therapy for stroke in rat: neurotrophins and functional recovery. Neurology 2002;59(4):514-23
   PubMed Web of Science ®Google Scholar
• Lindvall O, Kokaia Z. Stem cells for the treatment of neurological disorders. Nature 2006;441(7097):1094-6
   PubMed Web of Science ®Google Scholar
• Mazzini L, Mareschi K, Ferrero I, Stem cell treatment in amyotrophic lateral sclerosis. J Neurol Sci 2008;265(1-2):78-83
   PubMed Web of Science ®Google Scholar
• Lu P, Jones LL, Snyder EY, Tuszynski MH. Neural stem cells constitutively secrete neurotrophic factors and promote extensive host axonal growth after spinal cord injury. Exp Neurol 2002;181:14
   Google Scholar
• Nayak MS, Kim YS, Goldman M, Cellular therapies in motor neuron diseases. Biochim Biophys Acta 2006;1762:10
   Google Scholar
• Chao MV, Rajagopal R, Lee FS. Neurotrophin signalling in health and disease. Clin Sci 2006;110:6
   Web of Science ®Google Scholar
• Fischer LR, Glass JD. Axonal degeneration in motor neuron disease. Neurogenerative Dis 2007;4:11
   Google Scholar
• Kong L, Wang X, Choe DW, Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neuroscience 2009;29(3):9
   Google Scholar
• Gould TW, Oppenheim RW. Synaptic dysfunction in disease and following injury in the developing and adult nervous system: caveats in the choice of therapeutic intervention. Neurosci Biobehav Rev 2007;31(8):1073-87
   PubMed Web of Science ®Google Scholar
• Lohof AM, Ip NY, Poo M-M. Potentiation of developing neuromuscular synapses by the neurotrophins NT-3 and BDNF. Nature 1993;363(6427):350-3
   PubMed Web of Science ®Google Scholar
• Blum R, Konnerth A. Neurotrophin-mediated rapid signaling in the central nervous system: mechanisms and functions. Physiology 2005;20(1):70-8
   PubMed Web of Science ®Google Scholar
• Gardiner J, Marc J. Arabidopsis thaliana, a plant model organism for the neuronal microtubule cytoskeleton? J Exp Bot 2010. [Epub ahead of print, doi: 10.1093/jxb/erq278]
   PubMed Web of Science ®Google Scholar
• Gao Y, Nikulina E, Mellado W, Filbin MT. Neurotrophins elevate cAMP to reach a threshold required to overcome inhibition by MAG through extracellular signal-regulated kinase-dependent inhibition of phosphodiesterase. J Neurosci 2003;23(37):7
   PubMedGoogle Scholar
• Harper JMKC, Darman JS, Deshpande DM, Axonal growth of embryonic stem cell-derived motoneurons in vitro and in motoneuron-injured adult rats. Proc Natl Acad Sci USA 2004;101(18):5
   Google Scholar
• Spencer TAF, MT. A role for cAMP in regeneration of the adult mammalian CNS. J Anat 2004;204:5
   Web of Science ®Google Scholar
• Briese M, Esmaeili B, Sattelle DB. Is spinal muscular atrophy the result of defects in motor neuron processes? BioEssays 2005;27(9):946-57
   PubMed Web of Science ®Google Scholar
• Wang T, Xie K, Lu B. Neurotrophins promote maturation of developing neuromuscular synapses. J Neurosci 1995;15(7):4796-805
   PubMed Web of Science ®Google Scholar
• Lu B, Je HS. Neurotrophic regulation of the development and function of the neuromuscular synapses. J Neurocytol 2003;32:931-41
   PubMedGoogle Scholar
• Grumbles RM, Sesodia S, Wood PM, Thomas CK. Neurotrophic factors improve motoneuron survival and function of muscle reinnervated by embryonic neurons. J Neuropathol Exp Neurol 2009;68(7):736-46
   PubMed Web of Science ®Google Scholar
• Dreyfus CF, Dai X, Lercher LD, Expression of neurotrophins in the adult spinal cord in vivo. J Neurosci Res 1999;56:7
   Web of Science ®Google Scholar
• Riley CP, Cope TC, Buck CR. CNS neurotrophins are biologically active and expressed by multiple cell types. J Mol Histol 2004;35(8-9):771-83
   PubMed Web of Science ®Google Scholar
• Suzuki M, Svendsen CN. Combining growth factor and stem cell therapy for amyotrophic lateral sclerosis. Trends Neurosci 2008;31(4):6
   Google Scholar
• Brenner HR, Lomo T, Williamson R. Control of end-plate channel properties by neurotrophic effects and by muscle activity in rats. J Physiol 1987;388:367-81
   PubMed Web of Science ®Google Scholar
• Pinset C, Mulle C, Benoit P, Functional adult acetylcholine receptor develops independently of motor innervation in Sol 8 mouse muscle cell line. EMBO J 1991;10(9):7
   Google Scholar
• Murray LMLS, Baumer D, Parson SH, Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum Mol Genet 2010;19(3):13
   Google Scholar
• Greensmith L, Sieradzan K, Vrbova G. Possible consequences of disruption of neuromuscular contacts in early development for motoneurone survival. Acta Neurobiol Exp (Wars) 1993;53:319-24
   PubMedGoogle Scholar
• Ebert AD, Yu J, Rose FF, Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009;457(7227):277-80
   PubMed Web of Science ®Google Scholar
• Park I-H, Zhao R, West JA, Reprogramming of human somatic cells to pluripotency with defined factors. Nature 2008;451(7175):141-6
   PubMed Web of Science ®Google Scholar
• Jaenisch R, Young R. Stem cells, the molecular circuitry of pluripotency and nuclear reprogramming. Cell 2008;132(4):567-82
   PubMed Web of Science ®Google Scholar
• Takahashi K, Tanabe K, Ohnuki M, Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007;131(5):861-72
   PubMed Web of Science ®Google Scholar
• Yu J, Vodyanik MA, Smuga-Otto K, Induced pluripotent stem cell lines derived from human somatic cells. Science 2007;318(5858):1917-20
   PubMed Web of Science ®Google Scholar
• Sendtner M. Therapy development in spinal muscular atrophy. Nat Neurosci 2010;13(7):795-9
   PubMed Web of Science ®Google Scholar
• Dimos JT, Rodolfa KT, Niakan KK, Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 2008;321(5893):1218-21
   PubMed Web of Science ®Google Scholar
• Park I-H, Arora N, Huo H, Disease-specific induced pluripotent stem cells. Cell 2008;134(5):877-86
   PubMed Web of Science ®Google Scholar
• Pick M, Stelzer Y, Bar-Nur O, Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells. Stem Cells 2009;27(11):2686-90
   PubMed Web of Science ®Google Scholar
• Marchetto MCN, Winner B, Gage FH. Pluripotent stem cells in neurodegenerative and neurodevelopmental diseses. Hum Mol Genet 2010;19(R1):5
   Google Scholar
• Ebert AD, Svendsen CN. Stem cell model of spinal muscular atrophy. Arch Neurol 2010;67(6):665-9
   PubMed Web of Science ®Google Scholar
• Murray LM, Talbot K, Gillingwater TH. Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy. Neuropathol Appl Neurobiol 2010;36(2):133-56
   PubMed Web of Science ®Google Scholar
• DiDonato CJ, Schmid A. Animal models of spinal muscular atrophy. J Child Neurol 2007;22:8
   PubMed Web of Science ®Google Scholar
• Butchbach ME, Singh J, Thorsteinsdottir M, Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet 2010;14:15
   Google Scholar
• Avila AM, Burnett BG, Taye AA, Trichostatin A incrases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest 2007;117:12
   Google Scholar
• Riessland M, Ackermann B, Forster B, SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet 2010;19:14
   Web of Science ®Google Scholar
• Garbes L, Riessland M, Holker I, LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Hum Mol Genet 2009;18:13
   Web of Science ®Google Scholar