Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Namavar, Yasmin ^a   Barth, Peter G ^a   Poll The, Bwee ^a   Baas, Frank ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE TRANSFER RNA LIGASE; ENDONUCLEASE; LEVODOPA; TRANSFER RNA; RIBONUCLEASE; SPLICING ENDONUCLEASE;

CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; COGNITIVE DEFECT; DISEASE CLASSIFICATION; DYSPHAGIA; GENE EXPRESSION; GENE MUTATION; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MALIGNANT HYPERTHERMIA; MICROCEPHALY; NONHUMAN; PATHOGENESIS; PHYSIOTHERAPY; PONTOCEREBELLAR HYPOPLASIA; REVIEW; RNA PROCESSING; RNA SPLICING; SEIZURE; SLEEP APNEA SYNDROME; SUDDEN INFANT DEATH SYNDROME; ANIMAL; BRAIN; CHILD; CLASSIFICATION; DISEASE MODEL; GENETICS; INFANT; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIVOPONTOCEREBELLAR ATROPHY; PATHOLOGY; PRESCHOOL CHILD; RADIOGRAPHY;

ANIMALS; ARGININE-TRNA LIGASE; BRAIN; CHILD; CHILD, PRESCHOOL; DISEASE MODELS, ANIMAL; ENDORIBONUCLEASES; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES;

EID: 79960175586     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-50     Document Type: Review

References (105)

1. Zur Kenntnis der Bildungsfehler des Kleinhirns. Epikritische Bemerkungen zur Entwicklungspathologie, Morphologie und Klinik der umschriebenen Entwicklungshemmungen des Neozerebellums. Brun R, Schweiz Arch Neurol Psychiatr 1917 1 48 105
2. Hypoplasia ponto-neocerebellaris. Brouwer B, Psychiatr Neurol (Amsterdam) 1924 6 461 469
3. Two cases of hypoplasia ponto-neocerebellaris. Koster S, Acta Psychiatr (Københ) 1926 1 47 76 10.1111/j.1600-0447.1926.tb05648.x
4. ber einen Bildungsfehler des Kleinhirns und einige faseranatomische Beziehungen des Organs. Krause F, Zeitschrift der Gesammten Neurologie und Psychiatrie 1928 119 788 815
5. Hypoplasia ponto-neocerebellaris, with malformation of the dentate nucleus. Biemond A, Folia Psychiatr Neurol Neurochir Neerl 1955 58 2 7 14353215
6. Cerebellar hypoplasia in Werdnig-Hoffmann disease. Norman RM, Arch Dis Child 1961 36 96 101 10.1136/adc.36.185.96 13729575
7. Anterior horn cell disease associated with pontocerebellar hypoplasia in infants. Goutieres F, Aicardi J, Farkas E, J Neurol Neurosurg Psychiatry 1977 40 370 378 10.1136/jnnp.40.4.370 874513 (Pubitemid 8129817)
8. Hypoplasia ponto-neocerebellaris. Peiffer J, Pfeiffer RA, J Neurol 1977 215 241 251 10.1007/BF00312495 70516 (Pubitemid 8151667)
9. Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. Barth PG, Vrensen GF, Uylings HB, Oorthuys JW, Stam FC, J Neurol Sci 1990 97 25 42 10.1016/0022-510X(90)90096- 6 2370559 (Pubitemid 20190522)
10. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Barth PG, Brain Dev 1993 15 411 422 10.1016/0387-7604(93)90080-R 8147499
11. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Patel MS, Becker LE, Toi A, Armstrong DL, Chitayat D, Am J Med Genet A 2006 140 594 603 16470708 (Pubitemid 43376296)
12. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O, Am J Hum Genet 2007 81 857 862 10.1086/521227 17847012 (Pubitemid 47596554)
13. Early Pontocerebellar Hypoplasia with Vanishing Testes: A New Syndrome? Anderson C, Davies JH, Lamont L, Foulds N, Am J Med Genet Part A 2011 155 667 672 10.1002/ajmg.a.33897
14. Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings. Albrecht S, Schneider MC, Belmont J, Armstrong DL, Acta Neuropathol 1993 85 394 399 10.1007/BF00334450 8480512 (Pubitemid 23100929)
15. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. Barth PG, Blennow G, Lenard HG, Begeer JH, van der Kley JM, Hanefeld F, Peters AC, Valk J, Neurology 1995 45 311 317 7854532
16. Early fatal pontocerebellar hypoplasia in premature twin sisters. Chaves-Vischer V, Pizzolato GP, Hanquinet S, Maret A, Bottani A, Haenggeli CA, Eur J Paediatr Neurol 2000 4 171 176 10.1053/ejpn.2000.0295 11008260 (Pubitemid 30604757)
17. Pontoneocerebellar hypoplasia: definition of MR features. Goasdoue P, Rodriguez D, Moutard ML, Robain O, Lalande G, Adamsbaum C, Pediatr Radiol 2001 31 613 618 10.1007/s002470100507 11511999 (Pubitemid 32816123)
18. Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings. Steinlin M, Klein A, Haas-Lude K, Zafeiriou D, Strozzi S, Muller T, Gubser-Mercati D, Schmitt MT, Krageloh-Mann I, Boltshauser E, Eur J Paediatr Neurol 2007 11 146 152 10.1016/j.ejpn.2006.11.012 17320436 (Pubitemid 46585940)
19. Pontocerebellar hypoplasia type 2: a neuropathological update. Barth PG, Aronica E, de Vries L, Nikkels PG, Scheper W, Hoozemans JJ, Poll-The BT, Troost D, Acta Neuropathol 2007 114 373 386 10.1007/s00401-007-0263-0 17641900 (Pubitemid 47500349)
20. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, et al. Brain 2011 134 143 156 10.1093/brain/awq287 20952379
21. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Rudnik-Schoneborn S, Sztriha L, Aithala GR, Houge G, Laegreid LM, Seeger J, Huppke M, Wirth B, Zerres K, Am J Med Genet A 2003 117A 10 17 10.1002/ajmg.a.10863 12548734 (Pubitemid 37059314)
22. Familial pontocerebellar hypoplasia type I with anterior horn cell disease. Gorgen-Pauly U, Sperner J, Reiss I, Gehl HB, Reusche E, Eur J Paediatr Neurol 1999 3 33 38 10.1053/ejpn.1999.0177 10727190 (Pubitemid 29092964)
23. Anterior horn cell disease and olivopontocerebellar hypoplasia. Ryan MM, Cooke-Yarborough CM, Procopis PG, Ouvrier RA, Pediatr Neurol 2000 23 180 184 10.1016/S0887-8994(00)00166-1 11020648
24. Pontocerebellar hypoplasia type 1. Szabo N, Szabo H, Hortobagyi T, Turi S, Sztriha L, Pediatr Neurol 2008 39 286 288 10.1016/j.pediatrneurol.2008.06.017 18805371
25. Delayed gyration with pontocerebellar hypoplasia type 1. Okanishi T, Mori Y, Shirai K, Kobayashi S, Nakashima H, Kibe T, Yokochi K, Togari H, Nonaka I, Brain Dev 2010 32 258 262 10.1016/j.braindev.2009.01.006 19243903
26. Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2). Barth PG, Ryan MM, Webster RI, Aronica E, Kan A, Ramkema M, Jardine P, Poll-The BT, Neuromuscul Disord 2008 18 52 58 10.1016/j.nmd.2007.08.001 17825555 (Pubitemid 351181395)
27. Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Cassandrini D, Biancheri R, Tessa A, Di RM, Di CM, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, et al. Neurology 2010 75 1459 1464 10.1212/WNL. 0b013e3181f88173 20956791
28. Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. Valayannopoulos V, Michot C, Rodriguez D, Hubert L, Saillour Y, Labrune P, de LJ, Brunelle F, Amiel J, Lyonnet S, et al. Brain 2011
29. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? Graham JM Jr, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB, Am J Med Genet A 2010 152A 2268 2276 10.1002/ajmg.a.33579 20803644
30. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA, Neurology 2003 60 1664 1667 12771259 (Pubitemid 36618095)
31. Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings. Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F, J Neurol 2009 256 416 419 10.1007/s00415-009-0094-0 19277761
32. Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency. Jacob FD, Hasal S, Goez HR, Pediatr Neurol 2011 44 147 149 10.1016/j.pediatrneurol. 2010.09.002 21215917
33. Neocerebellar hypoplasia with systemic combined olivo-ponto-dentatal degeneration in a 9-day-old baby: contribution to the problem of relations between malformation and systemic degeneration in early life. Kawagoe T, Jacob H, Clin Neuropathol 1986 5 203 208 3466729
34. Olivo-ponto-cerebellar atrophy with muscular atrophy, joint contractures and pulmonary hypoplasia of prenatal onset. Moerman P, Barth PG, Virchows Arch A Pathol Anat Histopathol 1987 410 339 345 10.1007/BF00711290 3101283 (Pubitemid 17014609)
35. Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy. Park SH, Becker-Catania S, Gatti RA, Crandall BF, Emelin JK, Vinters HV, Acta Neuropathol 1998 96 315 321 10.1007/ s004010050900 9796994 (Pubitemid 28451135)
36. Pontoneocerebellar hypoplasia: report of a case in a newborn and review of the literature. Pittella JE, Nogueira AM, Clin Neuropathol 1990 9 33 38 2407401 (Pubitemid 20101126)
37. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Budde BS, Namavar Y, Barth PG, Poll-The BT, Nurnberg G, Becker C, van Ruissen F, Weterman MAJ, Fluiter K, te Beek E, et al. Nat Genet 2008 40 1113 1118 10.1038/ng.204 18711368
38. TSEN54 mutations cause pontocerebellar hypoplasia type 5. Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F, Eur J Hum Genet 2011
39. Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G, Am J Med Genet A 2010 152A 2079 2084 10.1002/ajmg.a.33531 20635367
40. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Simonati A, Cassandrini D, Bazan D, Santorelli FM, Acta Neuropathol 2011
41. CBS, 2011 http://www.cbs.nl/nl-NL/menu/home/default.htm
42. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E, Am J Hum Genet 2009 85 281 289 10.1016/j.ajhg.2009.07.006 19646678
43. Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5 q. Dubowitz V, Daniels RJ, Davies KE, Neuromuscul Disord 1995 5 25 29 10.1016/0960-8966(94)00043-9 7719137
44. Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. Muntoni F, Goodwin F, Sewry C, Cox P, Cowan F, Airaksinen E, Patel S, Ignatius J, Dubowitz V, Neuropediatrics 1999 30 243 248 10.1055/s-2007-973498 10598835
45. Cerebellar hypoplasia in Werdnig-Hoffmann disease. Weinberg AG, Kirkpatrick JB, Dev Med Child Neurol 1975 17 511 516 1158057
46. Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease. Steiman GS, Rorke LB, Brown MJ, Ann Neurol 1980 8 317 324 10.1002/ana.410080316 7436375 (Pubitemid 10018383)
47. Amyotrophic cerebellar hypoplasia: a specific form of infantile spinal atrophy. de Leon GA, Grover WD, D'Cruz CA, Acta Neuropathol 1984 63 282 286 10.1007/BF00687334 6475488 (Pubitemid 14080922)
48. Pontocerebellar hypoplasia associated with infantile motor neuron disease (Norman's disease). Kamoshita S, Takei Y, Miyao M, Yanagisawa M, Kobayashi S, Saito K, Pediatr Pathol 1990 10 133 142 10.3109/15513819009067102 2315227 (Pubitemid 20130959)
49. Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Chou SM, Gilbert EF, Chun RW, Laxova R, Tuffli GA, Sufit RL, Krassikot N, Clin Neuropathol 1990 9 21 32 2407400 (Pubitemid 20101125)
50. Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity. Sztriha L, Johansen JG, Am J Med Genet A 2005 135 134 141 15832356 (Pubitemid 40769962)
51. Exclusion of the gene locus for spinal muscular atrophy on chromosome 5 q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration. Rudnik-Schoneborn S, Wirth B, Rohrig D, Saule H, Zerres K, Neuromuscul Disord 1995 5 19 23 10.1016/0960-8966(94)E0025-4 7719136
52. Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa. Grosso S, Mostadini R, Cioni M, Galluzzi P, Morgese G, Balestri P, J Neurol 2002 249 596 600 10.1007/s004150200069 12021950 (Pubitemid 34507834)
53. Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Agamy O, Ben ZB, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, et al. Am J Hum Genet 2010 87 538 544 10.1016/j.ajhg.2010.09.007 20920667
54. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, et al. Am J Hum Genet 2010 87 667 670 10.1016/j.ajhg.2010.09.016 20950787
55. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA, J Med Genet 2007 44 277 280 10.1136/jmg.2006.044735 17158594 (Pubitemid 46596441)
56. Carbohydrate-deficient glycoprotein syndrome - a fourth subtype. Stibler H, Stephani U, Kutsch U, Neuropediatrics 1995 26 235 237 10.1055/s-2007-979762 8552211
57. Congenital disorder of glycosylation type Id: Clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. Denecke J, Kranz C, Kleist-Retzow JC, Bosse K, Herkenrath P, Debus O, Harms E, Marquardt T, Pediat Res 2005 58 248 253 10.1203/01.PDR.0000169963.94378.B6 16006436 (Pubitemid 41099869)
58. CDG-Id in two siblings with partially different phenotypes. Kranz C, Sun L, Eklund EA, Krasnewich D, Casey JR, Freeze HH, Am J Med Genet A 2007 143A 1414 1420 10.1002/ajmg.a.31796 17551933 (Pubitemid 47051019)
59. Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, et al. Am J Hum Genet 2007 80 931 937 10.1086/517888 17436247 (Pubitemid 46668461)
60. Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. Scaglia F, Wong LJ, Vladutiu GD, Hunter JV, Am J Neuroradiol 2005 26 1675 1680 16091512 (Pubitemid 43853662)
61. Pontocerebellar hypoplasia associated with respiratory-chain defects. de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG, Neuropediatrics 1999 30 93 95 10.1055/s-2007-973467 10401692 (Pubitemid 29265407)
62. Diagnostic criteria and genetics of the PEHO syndrome. Somer M, J Med Genet 1993 30 932 936 10.1136/jmg.30.11.932 8301648 (Pubitemid 23330042)
63. The PEHO syndrome. Riikonen R, Brain Dev 2001 23 765 769 10.1016/S0387-7604(01)00283-2 11701291 (Pubitemid 32999162)
64. The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries. Kirschner J, Bonnemann CG, Arch Neurol 2004 61 189 199 10.1001/archneur.61.2.189 14967765 (Pubitemid 38197549)
65. The congenital muscular dystrophies in 2004: a century of exciting progress. Muntoni F, Voit T, Neuromuscul Disord 2004 14 635 649 10.1016/j.nmd.2004.06.009 15351421 (Pubitemid 39194664)
66. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, et al. Nat Genet 2008 40 1065 1067 10.1038/ng.194 19165920
67. Midbrain-hindbrain involvement in lissencephalies. Jissendi-Tchofo P, Kara S, Barkovich AJ, Neurology 2009 72 410 418 10.1212/01.wnl.0000333256.74903. 94 19020296
68. Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, et al. Hum Mol Genet 2010 19 4462 4473 10.1093/hmg/ddq377 20829227
69. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Tischfield MA, Cederquist GY, Gupta ML Jr, Engle EC, Curr Opin Genet Dev 2011
70. Disruption of cerebellar development: potential complication of extreme prematurity. Messerschmidt A, Brugger PC, Boltshauser E, Zoder G, Sterniste W, Birnbacher R, Prayer D, AJNR Am J Neuroradiol 2005 26 1659 1667 16091510 (Pubitemid 43853660)
71. Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome. Messerschmidt A, Fuiko R, Prayer D, Brugger PC, Boltshauser E, Zoder G, Sterniste W, Weber M, Birnbacher R, Eur J Pediatr 2008 167 1141 1147 10.1007/s00431-007-0647-0 18172680
72. The yeast tRNA splicing endonuclease: a tetrameric enzyme with two active site subunits homologous to the archaeal tRNA endonucleases. Trotta CR, Miao F, Arn EA, Stevens SW, Ho CK, Rauhut R, Abelson JN, Cell 1997 89 849 858 10.1016/S0092-8674(00)80270-6 9200603 (Pubitemid 27513511)
73. Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation. Paushkin SV, Patel M, Furia BS, Peltz SW, Trotta CR, Cell 2004 117 311 321 10.1016/S0092-8674(04)00342-3 15109492 (Pubitemid 38534538)
74. Cleavage of pre-tRNAs by the splicing endonuclease requires a composite active site. Trotta CR, Paushkin SV, Patel M, Li H, Peltz SW, Nature 2006 441 375 377 10.1038/nature04741 16710424 (Pubitemid 44050205)
75. tRNA transfers to the limelight. Hopper AK, Phizicky EM, Genes Dev 2003 17 162 180 10.1101/gad.1049103 12533506 (Pubitemid 36105890)
76. Genomic tRNA database, 2010 http://lowelab.ucsc.edu/GtRNAdb/
77. Molecular biology. Knives, accomplices, and RNA. Wickens M, Gonzalez TN, Science 2004 306 1299 1300 10.1126/science.1100137 15550648 (Pubitemid 39532491)
78. The human RNA kinase hClp1 is active on 3' transfer RNA exons and short interfering RNAs. Weitzer S, Martinez J, Nature 2007 447 222 226 10.1038/nature05777 17495927 (Pubitemid 46763082)
79. Biochemistry: The big catch. Trotta CR, Nature 2007 447 156 157 10.1038/447156a 17495915 (Pubitemid 46763069)
80. hClp1: a novel kinase revitalizes RNA metabolism. Weitzer S, Martinez J, Cell Cycle 2007 6 2133 2137 10.4161/cc.6.17.4642 17786051 (Pubitemid 47450413)
81. Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia. Kasher PR, Namavar Y, van TP, Fluiter K, Sizarov A, Kamermans M, Grierson AJ, Zivkovic D, Baas F, Hum Mol Genet 2011 20 1574 1584 10.1093/hmg/ddr034 21273289
82. Development and developmental disorders of the human cerebellum. Ten Donkelaar HJ, Lammens M, Wesseling P, Thijssen HO, Renier WO, J Neurol 2003 250 1025 1036 10.1007/s00415-003-0199-9 14504962 (Pubitemid 37152550)
83. The role of aminoacyl-tRNA synthetases in genetic diseases. Antonellis A, Green ED, Annu Rev Genomics Hum Genet 2008 9 87 107 10.1146/annurev.genom.9. 081307.164204 18767960
84. Human lysyl-tRNA synthetase is secreted to trigger proinflammatory response. Park SG, Kim HJ, Min YH, Choi EC, Shin YK, Park BJ, Lee SW, Kim S, Proc Natl Acad Sci USA 2005 102 6356 6361 10.1073/pnas.0500226102 15851690 (Pubitemid 40617447)
85. Aminoacyl-tRNA synthetase complexes: molecular multitasking revealed. Hausmann CD, Ibba M, FEMS Microbiol Rev 2008 32 705 721 10.1111/j.1574-6976. 2008.00119.x 18522650 (Pubitemid 351799691)
86. The human SepSecS-tRNASec complex reveals the mechanism of selenocysteine formation. Palioura S, Sherrer RL, Steitz TA, Soll D, Simonovic M, Science 2009 325 321 325 10.1126/science.1173755 19608919
87. The selenium to selenoprotein pathway in eukaryotes: more molecular partners than anticipated. Allmang C, Wurth L, Krol A, Biochim Biophys Acta 2009 1790 1415 1423 19285539
88. Early embryonic lethality caused by targeted disruption of the mouse selenocysteine tRNA gene (Trsp). Bosl MR, Takaku K, Oshima M, Nishimura S, Taketo MM, Proc Natl Acad Sci USA 1997 94 5531 5534 10.1073/pnas.94.11.5531 9159106 (Pubitemid 27241803)
89. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, et al. Nat Genet 2007 39 534 539 10.1038/ng2013 17384640 (Pubitemid 46514784)
90. Aminoacyl tRNA synthetases and their connections to disease. Park SG, Schimmel P, Kim S, Proc Natl Acad Sci USA 2008 105 11043 11049 10.1073/pnas.0802862105 18682559
91. RNA-binding proteins in human genetic disease. Lukong KE, Chang KW, Khandjian EW, Richard S, Trends Genet 2008 24 416 425 10.1016/j.tig.2008.05.004 18597886
92. RNA and disease. Cooper TA, Wan L, Dreyfuss G, Cell 2009 136 777 793 10.1016/j.cell.2009.02.011 19239895
93. RNA processing defects associated with diseases of the motor neuron. Kolb SJ, Sutton S, Schoenberg DR, Muscle Nerve 2010 41 5 17 10.1002/mus.21428 19697368
94. RNA metabolism and the pathogenesis of motor neuron diseases. Lemmens R, Moore MJ, Al-Chalabi A, Brown RH Jr, Robberecht W, Trends Neurosci 2010 33 249 258 10.1016/j.tins.2010.02.003 20227117
95. Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Lee JW, Beebe K, Nangle LA, Jang J, Longo-Guess CM, Cook SA, Davisson MT, Sundberg JP, Schimmel P, Ackerman SL, Nature 2006 443 50 55 10.1038/nature05096 16906134 (Pubitemid 44344044)
96. Tissue-specific differences in human transfer RNA expression. Dittmar KA, Goodenbour JM, Pan T, PLoS Genet 2006 2 221 10.1371/journal.pgen.0020221 17194224 (Pubitemid 46045190)
97. The Effects of Protein Malnutrition on the Developing Central Nervous System in the Rat. Morgane PJ, Miller M, Kemper T, Stern W, Forbes W, Hall R, Bronzino J, Kissane J, Hawrylewicz E, Resnick O, Neuroscience & Biobehavioral Reviews 1978 2 137 230 10.1016/0149-7634(78)90059-3 21751438 (Pubitemid 9053214)
98. Effects of prenatal protein malnutrition on the electrical cerebral activity during development. De F, Varela O, Oropeza JJ, Bisiacchi B, Alvarez A, Neurosci Lett 2010 482 203 207 10.1016/j.neulet.2010.07.033 20654694
99. Nutrition and the developing brain: nutrient priorities and measurement. Georgieff MK, Am J Clin Nutr 2007 85 614S 620S 17284765 (Pubitemid 46220971)
100. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, et al. Nat Genet 2006 38 197 202 10.1038/ng1727 16429158 (Pubitemid 43177233)
101. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, et al. Am J Hum Genet 2010 87 560 566 10.1016/j.ajhg.2010.09.008 20920668
102. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, Zeligson S, Segel R, Elpeleg O, Nassar S, Frishberg Y, Am J Hum Genet 2011 88 193 200 10.1016/j.ajhg.2010.12.010 21255763
103. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, Opitz JM, Li W, Klevit RE, King MC, Proc Natl Acad Sci USA 2011
104. HSPC117 is the essential subunit of a human tRNA splicing ligase complex. Popow J, Englert M, Weitzer S, Schleiffer A, Mierzwa B, Mechtler K, Trowitzsch S, Will CL, Luhrmann R, Soll D, et al. Science 2011 331 760 764 10.1126/science.1197847 21311021
105. RNA-splicing endonuclease structure and function. Calvin K, Li H, Cell Mol Life Sci 2008 65 1176 1185 10.1007/s00018-008-7393-y 18217203