RNA processing defects associated with diseases of the motor neuron

Muscle and Nerve

Volumn 41, Issue 1, 2010, Pages 5-17

  Kolb, Stephen J ^a,b   Sutton, Scott ^b   Schoenberg, Daniel R ^b  

^a THE OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Amyotrophic lateral sclerosis; Hereditary neuropathy; RNA processing; Spinal muscular atrophy

Indexed keywords

ALPHA CRYSTALLIN; AMINO ACID TRANSFER RNA LIGASE; BINDING PROTEIN; HEAT SHOCK PROTEIN; IMMUNOGLOBULIN MU BINDING PROTEIN 2; RIBONUCLEOPROTEIN; RNA BINDING PROTEIN; SURVIVAL MOTOR NEURON PROTEIN; TAR DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

COMPLEX FORMATION; FUSED IN SARCOMA GENE; GENE; GENE EXPRESSION; GLE1 GENE; HUMAN; MOTOR NEURON DISEASE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN RNA BINDING; REVIEW; RNA PROCESSING; RNA SPLICING; SENATAXIN GENE; SPINAL MUSCULAR ATROPHY;

HUMANS; MOTOR NEURON DISEASE; MOTOR NEURONS; MUTATION; RIBONUCLEOPROTEINS; RNA; RNA PROCESSING, POST-TRANSCRIPTIONAL;

EID: 73949149584     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21428     Document Type: Review

References (154)

1. Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, et al. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 2003;126:2682-2692.
2. Russman BS. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol 2007;22:946-951.
3. Herva R, Leisti J, Kirkinen P, Seppanen U. A lethal autosomal recessive syndrome of multiple congenital contractures. Am J Med Genet 1985;20:431-439.
4. Vuopala K, Ignatius J, Herva R. Lethal arthrogryposis with anterior horn cell disease. Hum Pathol 1995;26:12-19.
5. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-625.
6. Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology 2008;70:144-152.
7. Gallo JM, Jin P, Thornton CA, Lin H, Robertson J, D'Souza I, et al. The role of RNA and RNA processing in neurodegeneration. J Neurosci 2005;25:10372-10375.
8. Licatalosi DD, Darnell RB. Splicing regulation in neurologic disease. Neuron 2006;52:93-101.
9. Kambach C, Walke S, Nagai K. Structure and assembly of the spliceosomal small nuclear ribonucleoprotein particles. Curr Opin Struct Biol 1999;9:222-230.
10. Luhrmann R, Kastner B, Bach M. Structure of spliceosomal snRNPs and their role in pre-mRNA splicing. Biochim Biophys Acta 1990;1087:265-292.
11. Will CL, Luhrmann R. Spliceosomal UsnRNP biogenesis, structure and function. Curr Opin Cell Biol 2001;13:290-301.
12. Meister G, Buhler D, Pillai R, Lottspeich F, Fischer U. A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs. Nat Cell Biol 2001;3:945-949.
13. Pellizzoni L, Yong J, Dreyfuss G. Essential role for the SMN complex in the specificity of snRNP assembly. Science 2002;298:1775-1779.
14. Achsel T, Stark H, Luhrmann R. The Sm domain is an ancient RNA-binding motif with oligo(U) specificity. Proc Natl Acad Sci U S A 2001;98:3685-3689.
15. Stark H, Dube P, Luhrmann R, Kastner B. Arrangement of RNA and proteins in the spliceosomal U1 small nuclear ribonucleoprotein particle. Nature 2001;409:539-542.
16. Fischer U, Luhrmann R. An essential signaling role for the m3G cap in the transport of U1 snRNP to the nucleus. Science 1990;249:786-790.
17. Fischer U, Sumpter V, Sekine M, Satoh T, Luhrmann R. Nucleo-cytoplasmic transport of U snRNPs: definition of a nuclear location signal in the Sm core domain that binds a transport receptor independently of the m3G cap. EMBO J 1993;12:573-583.
18. Hamm J, Darzynkiewicz E, Tahara SM, Mattaj IW. The trimethylguanosine cap structure of U1 snRNA is a component of a bipartite nuclear targeting signal. Cell 1990;62:569-577.
19. Mattaj IW. Cap trimethylation of U snRNA is cytoplasmic and dependent on U snRNP protein binding. Cell 1986;46:905-911.
20. Mattaj IW, Boelens W, Izaurralde E, Jarmolowski A, Kambach C. Nucleocytoplasmic transport and snRNP assembly. Mol Biol Rep 1993;18:79-83.
21. Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol 2007;22:990-994.
22. Yong J, Wan L, Dreyfuss G. Why do cells need an assembly machine for RNA-protein complexes? Trends Cell Biol 2004;14:226-232.
23. Cole CN, Scarcelli JJ. Unravelling mRNA export. Nat Cell Biol 2006;8:645-647.
24. Moore MJ. From birth to death: the complex lives of eukaryotic mRNAs. Science 2005;309:1514-1518.
25. Stewart M. Ratcheting mRNA out of the nucleus. Mol Cell 2007;25:327-330.
26. York JD, Odom AR, Murphy R, Ives EB, Wente SR. A phospholipase C-dependent inositol polyphosphate kinase pathway required for efficient messenger RNA export. Science 1999;285:96-100.
27. Bakheet T, Williams BR, Khabar KS. ARED 3.0: the large and diverse AU-rich transcriptome. Nucleic Acids Res 2006;34:D111-114.
28. Sinsimer KS, Gratacos FM, Knapinska AM, Lu J, Krause CD, Wierzbowski AV, et al. Chaperone Hsp27, a novel subunit of AUF1 protein complexes, functions in AU-rich element-mediated mRNA decay. Mol Cell Biol 2008;28:5223-5237.
29. Bolognani F, Perrone-Bizzozero NI. RNA-protein interactions and control of mRNA stability in neurons. J Neurosci Res 2008;86:481-489.
30. Ko YG, Park H, Kim S. Novel regulatory interactions and activities of mammalian tRNA synthetases. Proteomics 2002;2:1304-1310.
31. Park SG, Ewalt KL, Kim S. Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers. Trends Biochem Sci 2005;30:569-574.
32. Park SG, Schimmel P, Kim S. Aminoacyl tRNA synthetases and their connections to disease. Proc Natl Acad Sci U S A 2008;105:11043-11049.
33. Murray EL, Schoenberg DR. A+U-rich instability elements differentially activate 5′-3′ and 3′-5′ mRNA decay. Mol Cell Biol 2007;27:2791-2799.
34. Czeizel A, Hamula J. A Hungarian study on Werdnig-Hoffmann disease. J Med Genet 1989;26:761-763.
35. Pearn JH, Hudgson P, Walton JN. A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity. Brain 1978;101:591-606.
36. Eng GD, Binder H, Koch B. Spinal muscular atrophy: experience in diagnosis and rehabilitation management of 60 patients. Arch Phys Med Rehabil 1984;65:549-553.
37. Iannaccone ST. Spinal muscular atrophy. Semin Neurol 1998;18:19-26.
38. Talbot K. Spinal muscular atrophy. J Inherit Metab Dis 1999;22:545-554.
39. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
40. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 1999;96:6307-6311.
41. Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999;8:1177-1183.
42. Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, et al. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 1998;19:63-66.
43. Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L. Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS ONE 2007;2:e921.
44. McWhorter ML, Monani UR, Burghes AH, Beattie CE. Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol 2003;162:919-932.
45. Rossoll W, Jablonka S, Andreassi C, Kroning AK, Karle K, Monani UR, et al. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 2003;163:801-812.
46. Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997;6: 1205-1214.
47. Gavrilov DK, Shi X, Das K, Gilliam TC, Wang CH. Differential SMN2 expression associated with SMA severity. Nat Genet 1998;20:230-231.
48. Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, et al. The role of histone acetylation in SMN gene expression. Hum Mol Genet 2005;14:1171-1182.
49. Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnich A, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997;16:265-269.
50. Soler-Botija C, Cusco I, Caselles L, Lopez E, Baiget M, Tizzano EF. Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? J Neuropathol Exp Neurol 2005;64:215-223.
51. Wan L, Battle DJ, Yong J, Gubitz AK, Kolb SJ, Wang J, et al. The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy. Mol Cell Biol 2005;25:5543-5551.
52. Zhang Z, Lotti F, Dittmar K, Younis I, Wan L, Kasim M, et al. SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell 2008;133:585-600.
53. Pellizzoni L. Chaperoning ribonucleoprotein biogenesis in health and disease. EMBO Rep 2007;8:340-345.
54. Kariya S, Park GH, Maeno-Hikichi Y, Leykekhman O, Lutz C, Arkovitz MS, et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 2008;17:2552-2569.
55. Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004;74:1128-1135.
56. Bassuk AG, Chen YZ, Batish SD, Nagan N, Opal P, Chance PF, et al. In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. Neurogenetics 2007;8:45-49.
57. Fogel BL, Perlman S. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2. Neurology 2006;67:2083-2084.
58. Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 2004;36:225-227.
59. Hadjigeorgiou GM, Kim SH, Fischbeck KH, Andreu AL, Berry GT, Bingham P, et al. A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy. J Neurol Sci 1999;164:153-157.
60. Rasmussen TP, Culbertson MR. The putative nucleic acid helicase Sen1p is required for formation and stability of termini and for maximal rates of synthesis and levels of accumulation of small nucleolar RNAs in Saccharomyces cerevisiae. Mol Cell Biol 1998;18:6885-6896.
61. Steinmetz EJ, Conrad NK, Brow DA, Corden JL. RNA-binding protein Nrd1 directs poly(A)-independent 30-end formation of RNA polymerase II transcripts. Nature 2001;413:327-331.
62. Ursic D, Himmel KL, Gurley KA, Webb F, Culbertson MR. The yeast SEN1 gene is required for the processing of diverse RNA classes. Nucleic Acids Res 1997;25:4778-4785.
63. Winey M, Culbertson MR. Mutations affecting the tRNAsplicing endonuclease activity of Saccharomyces cerevisiae. Genetics 1988;118:609-617.
64. Ursic D, Chinchilla K, Finkel JS, Culbertson MR. Multiple protein/protein and protein/RNA interactions suggest roles for yeast DNA/RNA helicase Sen1p in transcription, transcription-coupled DNA repair and RNA processing. Nucleic Acids Res 2004;32:2441-2452.
65. Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, et al. Ubiquitinated TDP-43 in fronto-temporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-133.
66. Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 2007;61:427-434.
67. Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, et al. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 2008;63:535-538.
68. Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008;40:572-574.
69. Kuhnlein P, Sperfeld AD, Vanmassenhove B, Van Deerlin V, Lee VM, Trojanowski JQ, et al. Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. Arch Neurol 2008;65:1185-1189.
70. Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, et al. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 2008;4:e1000193.
71. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-1672.
72. Buratti E, Baralle FE. Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem 2001;276:36337-36343.
73. Buratti E, Dork T, Zuccato E, Pagani F, Romano M, Baralle FE. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 2001;20:1774-1784.
74. Ou SH, Wu F, Harrich D, Garcia-Martinez LF, Gaynor RB. Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol 1995;69:3584-3596.
75. Arrisi-Mercado P, Romano M, Muro AF, Baralle FE. An exonic splicing enhancer offsets the atypical GU-rich 30 splice site of human apolipoprotein A-II exon 3. J Biol Chem 2004;279:39331-39339.
76. Gabellini N. A polymorphic GT repeat from the human cardiac Na+Ca2+ exchanger intron 2 activates splicing. Eur J Biochem / FEBS 2001;268:1076-1083.
77. Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, Baralle FE. TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 2005;280:37572-37584.
78. Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-1208.
79. Vance C, Rogelj B, Hortobagyi T, De Vos KJ, Nishimura AL, Sreedharan J, et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009;323:1208-1211.
80. Iko Y, Kodama TS, Kasai N, Oyama T, Morita EH, Muto T, et al. Domain architectures and characterization of an RNA-binding protein, TLS. J Biol Chem 2004;279:44834-44840.
81. Zinszner H, Albalat R, Ron D. A novel effector domain from the RNA-binding protein TLS or EWS is required for oncogenic transformation by CHOP. Genes Dev 1994;8:2513-2526.
82. Kanai Y, Dohmae N, Hirokawa N. Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. Neuron 2004;43:513-525.
83. Yoshimura A, Fujii R, Watanabe Y, Okabe S, Fukui K, Takumi T. Myosin-Va facilitates the accumulation of mRNA/protein complex in dendritic spines. Curr Biol 2006;16:2345-2351.
84. Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, et al. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet 2008;40:155-157.
85. Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, et al. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet 2007;81:530-539.
86. Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet 2007;81:589-595.
87. Alcazar-Roman AR, Tran EJ, Guo S, Wente SR. Inositol hexakisphosphate and Gle1 activate the DEAD-box protein Dbp5 for nuclear mRNA export. Nat Cell Biol 2006;8:711-716.
88. Weirich CS, Erzberger JP, Flick JS, Berger JM, Thorner J, Weis K. Activation of the DExD/H-box protein Dbp5 by the nuclear-pore protein Gle1 and its coactivator InsP6 is required for mRNA export. Nat Cell Biol 2006;8:668-676.
89. Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001;29:75-77.
90. Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, et al. Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. Hum Genet 2004;115:319-326.
91. Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, et al. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol 2003;54:719-724.
92. Mizuta TR, Fukita Y, Miyoshi T, Shimizu A, Honjo T. Isolation of cDNA encoding a binding protein specific to 50-phosphorylated single-stranded DNA with G-rich sequences. Nucleic Acids Res 1993;21:1761-1766.
93. Molnar GM, Crozat A, Kraeft SK, Dou QP, Chen LB, Pardee AB. Association of the mammalian helicase MAH with the pre-mRNA splicing complex. Proc Natl Acad Sci U S A 1997;94:7831-7836.
94. Grohmann K, Rossoll W, Kobsar I, Holtmann B, Jablonka S, Wessig C, et al. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum Mol Genet 2004;13:2031-2042.
95. Guenther UP, Handoko L, Laggerbauer B, Jablonka S, Chari A, Alzheimer M, et al. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). Hum Mol Genet 2009;18:1288-1300.
96. Guenther UP, Handoko L, Varon R, Stephani U, Tsao CY, Mendell JR, et al. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. J Mol Med 2009;87:31-41.
97. Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003;72:1293-1299.
98. Del Bo R, Locatelli F, Corti S, Scarlato M, Ghezzi S, Prelle A, et al. Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. Neurology 2006;66:752-754.
99. Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, et al. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology 2006;66:1721-1726.
100. James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K. Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology 2006;67:1710-1712.
101. Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, et al. Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci 1998;161:23-28.
102. Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, et al. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain 2005;128:2304-2314.
103. Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 2006;38:197-202.
104. Freist W, Logan DT, Gauss DH. Glycyl-tRNA synthetase. Biol Chem Hoppe-Seyler 1996;377:343-356.
105. Xie W, Nangle LA, Zhang W, Schimmel P, Yang XL. Longrange structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. Proc Natl Acad Sci U S A 2007;104:9976-9981.
106. Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P. Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. Proc Natl Acad Sci U S A 2007;104:11239-11244.
107. Chihara T, Luginbuhl D, Luo L. Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization. Nat Neurosci 2007;10:828-837.
108. Akins RA, Lambowitz AM. A protein required for splicing group I introns in Neurospora mitochondria is mitochondrial tyrosyl-tRNA synthetase or a derivative thereof. Cell 1987;50:331-345.
109. Mohr G, Rennard R, Cherniack AD, Stryker J, Lambowitz AM. Function of the Neurospora crassa mitochondrial tyrosyl-tRNA synthetase in RNA splicing. Role of the idiosyncratic N-terminal extension and different modes of interaction with different group I introns. J Mol Biol 2001;307:75-92.
110. Paukstelis PJ, Coon R, Madabusi L, Nowakowski J, Monzingo A, Robertus J, et al. A tyrosyl-tRNA synthetase adapted to function in group I intron splicing by acquiring a new RNA binding surface. Mol Cell 2005;17:417-428.
111. Saldanha RJ, Patel SS, Surendran R, Lee JC, Lambowitz AM. Involvement of Neurospora mitochondrial tyrosyltRNA synthetase in RNA splicing. A new method for purifying the protein and characterization of physical and enzymatic properties pertinent to splicing. Biochemistry 1995;34:1275-1287.
112. Wakasugi K, Schimmel P. Two distinct cytokines released from a human aminoacyl-tRNA synthetase. Science 1999;284:147-151.
113. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007;39:534-539.
114. Lee JW, Beebe K, Nangle LA, Jang J, Longo-Guess CM, Cook SA, et al. Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature 2006; 443:50-55.
115. Budde BS, Namavar Y, Barth PG, Poll-The BT, Nurnberg G, Becker C, et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 2008;40:1113-1118.
116. Kappe G, Franck E, Verschuure P, Boelens WC, Leunissen JA, de Jong WW. The human genome encodes 10 alphacrystallin-related small heat shock proteins: HspB1-10. Cell Stress Chaperones 2003;8:53-61.
117. Benndorf R, Welsh MJ. Shocking degeneration. Nat Genet 2004;36:547-548.
118. Irobi J, Tissir F, De Jonghe P, De Vriendt E, Van Broeckhoven C, Timmerman V, et al. A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. Genomics 2000;65:34-43.
119. Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 2004;36:597-601.
120. Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Lofgren A, Nelis E, et al. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. Neurology 1996;46:1311-1318.
121. Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain 2008;131:1217-1227.
122. Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004;36:602-606.
123. Houlden H, Laura M, Wavrant-De Vrieze F, Blake J, Wood N, Reilly MM. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Neurology 2008;71:1660-1668.
124. James PA, Rankin J, Talbot K. Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27). J Neurol Neurosurg Psychiatry 2008;79:461-463.
125. Kijima K, Numakura C, Goto T, Takahashi T, Otagiri T, Umetsu K, et al. Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. J Hum Genet 2005;50:473-476.
126. Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, et al. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. Arch Neurol 2005;62:1201-1207.
127. Kim MV, Kasakov AS, Seit-Nebi AS, Marston SB, Gusev NB. Structure and properties of K141E mutant of small heat shock protein HSP22 (HspB8, H11) that is expressed in human neuromuscular disorders. Arch Biochem Biophy 2006;454:32-41.
128. Ackerley S, James PA, Kalli A, French S, Davies KE, Talbot K. A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet 2006;15:347-354.
129. Latchman DS. HSP27 and cell survival in neurones. Int J Hyperthermia 2005;21:393-402.
130. Sun Y, MacRae TH. The small heat shock proteins and their role in human disease. FEBS J 2005;272:2613-2627.
131. Kawahara Y, Ito K, Sun H, Aizawa H, Kanazawa I, Kwak S. Glutamate receptors: RNA editing and death of motor neurons. Nature 2004;427:801.
132. Kwak S, Kawahara Y. Deficient RNA editing of GluR2 and neuronal death in amyotrophic lateral sclerosis. J Mol Med 2005;83:110-120.
133. Swanson GT, Kamboj SK, Cull-Candy SG. Single-channel properties of recombinant AMPA receptors depend on RNA editing, splice variation, and subunit composition. J Neurosci 1997;17:58-69.
134. Takuma H, Kwak S, Yoshizawa T, Kanazawa I. Reduction of GluR2 RNA editing, a molecular change that increases calcium influx through AMPA receptors, selective in the spinal ventral gray of patients with amyotrophic lateral sclerosis. Ann Neurol 1999;46:806-815.
135. El-Kadi AM, Soura V, Hafezparast M. Defective axonal transport in motor neuron disease. J Neurosci Res 2007;85:2557-2566.
136. Holzbaur EL. Motor neurons rely on motor proteins. Trends Cell Biol 2004;14:233-240.
137. Munch C, Sedlmeier R, Meyer T, Homberg V, Sperfeld AD, Kurt A, et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 2004;63:724-726.
138. Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, et al. Mutant dynactin in motor neuron disease. Nat Genet 2003;33:455-456.
139. Holzbaur EL, Tokito MK. Localization of the DCTN1 gene encoding p150Glued to human chromosome 2p13 by fluorescence in situ hybridization. Genomics 1996;31:398-399.
140. Vendra G, Hamilton RS, Davis I. Dynactin suppresses the retrograde movement of apically localized mRNA in Drosophila blastoderm embryos. RNA 2007;13:1860-1867.
141. Agarwal AK, Garg A. Seipin: a mysterious protein. Trends Mol Med 2004;10:440-444.
142. Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004;36:271-276.
143. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62.
144. Barber SC, Mead RJ, Shaw PJ. Oxidative stress in ALS: a mechanism of neurodegeneration and a therapeutic target. Biochim Biophys Acta 2006;1762:1051-1067.
145. Chang Y, Kong Q, Shan X, Tian G, Ilieva H, Cleveland DW, et al. Messenger RNA oxidation occurs early in disease pathogenesis and promotes motor neuron degeneration in ALS. PLoS ONE 2008;3:e2849.
146. Shan X, Chang Y, Lin CL. Messenger RNA oxidation is an early event preceding cell death and causes reduced protein expression. Faseb J 2007;21:2753-2764.
147. Tanaka M, Chock PB, Stadtman ER. Oxidized messenger RNA induces translation errors. Proc Natl Acad Sci U S A 2007;104:66-71.
148. Kunst CB, Mezey E, Brownstein MJ, Patterson D. Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions. Nat Genet 1997;15:91-94.
149. Wan L, Ottinger E, Cho S, Dreyfuss G. Inactivation of the SMN complex by oxidative stress. Mol Cell 2008;31:244-254.
150. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.
151. Maystadt I, Rezsohazy R, Barkats M, Duque S, Vannuffel P, Remacle S, et al. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet 2007;81:67-76.
152. Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000;67:37-46.
153. Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004;75:822-831.
154. Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet 2005;116:222-224.