Evidence for differential alternative splicing in blood of young boys with autism spectrum disorders

Molecular Autism

Volumn 4, Issue 1, 2013, Pages

  Stamova, Boryana S ^a,b   Tian, Yingfang ^a,b,d   Nordahl, Christine W ^a,c   Shen, Mark D ^a,c   Rogers, Sally ^a,c   Amaral, David G ^a,c   Sharp, Frank R ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d SHAANXI NORMAL UNIVERSITY   (China)

Author keywords

ASD; Autism; Gene expression; Head size; RNA; Splicing

Indexed keywords

ACID PHOSPHATASE; ANKYRIN; ANKYRIN REPEAT DOMAIN 44; ATAXIN 7; ATAXIN 7 LIKE 3B; CATALASE; CLATHRIN LIGHT CHAIN; CLATHRIN LIGHT CHAIN B; CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE 13; EMERIN; ENDONUCLEASE G; GLUTATHIONE TRANSFERASE; INTERLEUKIN 12 RECEPTOR BETA2; LYMPHOID ENHANCER FACTOR 1; MAMMALIAN TARGET OF RAPAMYCIN; MANGANESE SUPEROXIDE DISMUTASE; MEMBRANE PROTEIN; MESSENGER RNA; MICROSOMAL GLUTATHIONE S TRANSFERASE 3; NERVE GROWTH FACTOR; PEROXIREDOXIN 1; PHOSPHATIDYLINOSITOL 3 KINASE; REACTIVE OXYGEN METABOLITE; SUCCINYL COENZYME A SYNTHETASE; SUPEROXIDE; TRANSMEMBRANE PROTEIN 204; UNCLASSIFIED DRUG; UTROPHIN; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 330;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTISM; AUTISM DIAGNOSTIC OBSERVATION SCHEDULE; BLOOD SAMPLING; BRAIN SIZE; CHILD; CHROMOSOME 1; CHROMOSOME 14; CHROMOSOME 19; COMPARATIVE STUDY; CONTROLLED STUDY; EXON; GENOME; HUMAN; MACROPHAGE; MAJOR CLINICAL STUDY; MALE; MONOCYTE; NATURAL KILLER CELL; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SCANNER; OPEN READING FRAME; OXIDATIVE STRESS; PRESCHOOL CHILD; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; THREE DIMENSIONAL IMAGING;

EID: 84883265148     PISSN: None     EISSN: 20402392     Source Type: Journal    
DOI: 10.1186/2040-2392-4-30     Document Type: Article

References (115)

1. American Psychiatric Association, Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) Arlington, VA: American Psychiatric Association 2000
2. Genetics of autism spectrum disorders. Geschwind DH, Trends Cogn Sci 2011 15 409 416 10.1016/j.tics.2011.07.003 21855394
3. Genetic advances in autism: heterogeneity and convergence on shared pathways. Bill BR, Geschwind DH, Curr Opin Genet Dev 2009 19 271 278 10.1016/j.gde.2009.04.004 19477629
4. Autism spectrum disorder in the genetics clinic: a review. Carter M, Scherer S, Clin Genet 2013 83 399 407 10.1111/cge.12101 23425232
5. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH, Nature 2011 474 380 384 10.1038/nature10110 21614001
6. The mitochondrial aspartate/glutamate carrier AGC1 and calcium homeostasis: physiological links and abnormalities in autism. Napolioni V, Persico AM, Porcelli V, Palmieri L, Mol Neurobiol 2011 44 83 92 10.1007/s12035-011-8192-2 21691713
7. Mitochondrial dysfunction in autism spectrum disorders: cause or effect? Palmieri L, Persico AM, Biochim Biophys Acta 2010 1797 1130 1137 10.1016/j.bbabio.2010.04.018 20441769
8. Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1. Palmieri L, Papaleo V, Porcelli V, Scarcia P, Gaita L, Sacco R, Hager J, Rousseau F, Curatolo P, Manzi B, Militerni R, Bravaccio C, Trillo S, Schneider C, Melmed R, Elia M, Lenti C, Saccani M, Pascucci T, Puglisi-Allegra S, Reichelt KL, Persico AM, Mol Psychiatry 2010 15 38 52 10.1038/mp.2008.63 18607376
9. Mitochondrial dysfunction in autism. Giulivi C, Zhang YF, Omanska-Klusek A, Ross-Inta C, Wong S, Hertz-Picciotto I, Tassone F, Pessah IN, JAMA 2010 304 2389 2396 10.1001/jama.2010.1706 21119085
10. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Rossignol DA, Frye RE, Mol Psychiatry 2012 17 290 314 10.1038/mp.2010.136 21263444
11. Mitochondrial dysfunction can connect the diverse medical symptoms associated with autism spectrum disorders. Frye RE, Rossignol DA, Pediatr Res 2011 69 41R 47R 10.1203/PDR.0b013e318212f16b 21289536
12. Kinetics of Toll-like receptor-4 splice variants expression in lipopolysaccharide-stimulated antigen presenting cells of healthy donors and patients with cystic fibrosis. Jaresova I, Rozkova D, Spisek R, Janda A, Brazova J, Sediva A, Microbes Infect 2007 9 1359 1367 10.1016/j.micinf.2007.06.009 17890129 (Pubitemid 47539210)
13. Deletion of exon I of SMAD7 in mice results in altered B cell responses. Li R, Rosendahl A, Brodin G, Cheng AM, Ahgren A, Sundquist C, Kulkarni S, Pawson T, Heldin CH, Heuchel RL, J Immunol 2006 176 6777 6784 16709837 (Pubitemid 43787860)
14. Mammalian mRNA splice-isoform selection is tightly controlled. Chisa JL, Burke DT, Genetics 2007 175 1079 1087 17179090 (Pubitemid 46798214)
15. Fas-activated serine/threonine phosphoprotein (FAST) is a regulator of alternative splicing. Simarro M, Mauger D, Rhee K, Pujana MA, Kedersha NL, Yamasaki S, Cusick ME, Vidal M, Garcia-Blanco MA, Anderson P, Proc Natl Acad Sci U S A 2007 104 11370 11375 10.1073/pnas.0704964104 17592127 (Pubitemid 47175147)
16. Rapid, transcript-specific changes in splicing in response to environmental stress. Pleiss JA, Whitworth GB, Bergkessel M, Guthrie C, Mol Cell 2007 27 928 937 10.1016/j.molcel.2007.07.018 17889666 (Pubitemid 47489768)
17. A potential link between alternative splicing of the NBS1 gene and DNA damage/environmental stress. Takai K, Sakamoto S, Sakai T, Yasunaga J, Komatsu K, Matsuoka M, Radiat Res 2008 170 33 40 10.1667/RR1191.1 18582154 (Pubitemid 351931185)
18. DNA damage regulates alternative splicing through inhibition of RNA polymerase II elongation. Munoz MJ, Perez Santangelo MS, Paronetto MP, de la Mata M, Pelisch F, Boireau S, Glover-Cutter K, Ben-Dov C, Blaustein M, Lozano JJ, Bird G, Bentley D, Bertrand E, Kornblihtt AR, Cell 2009 137 708 720 10.1016/j.cell.2009.03.010 19450518
19. Brief naturalistic stress induces an alternative splice variant of SMG-1 lacking exon 63 in peripheral leukocytes. Kurokawa K, Kuwano Y, Tominaga K, Kawai T, Katsuura S, Yamagishi N, Satake Y, Kajita K, Tanahashi T, Rokutan K, Neurosci Lett 2010 484 128 132 10.1016/j.neulet.2010.08.031 20723581
20. Targeting gene-modified hematopoietic cells to the central nervous system: use of green fluorescent protein uncovers microglial engraftment. Priller J, Flugel A, Wehner T, Boentert M, Haas CA, Prinz M, Fernandez-Klett F, Prass K, Bechmann I, de Boer BA, Frotscher M, Kreutzberg GW, Persons DA, Dirnagl U, Nat Med 2001 7 1356 1361 10.1038/nm1201-1356 11726978 (Pubitemid 34007942)
21. Bone marrow stem cells have the ability to populate the entire central nervous system into fully differentiated parenchymal microglia. Simard AR, Rivest S, FASEB J 2004 18 998 1000 15084516 (Pubitemid 39561504)
22. Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism. Morgan JT, Chana G, Pardo CA, Achim C, Semendeferi K, Buckwalter J, Courchesne E, Everall IP, Biol Psychiatry 2010 68 368 376 10.1016/j.biopsych.2010.05.024 20674603
23. Immune dysfunction in autism: a pathway to treatment. Careaga M, Van de Water J, Ashwood P, Neurotherapeutics 2010 7 283 292 10.1016/j.nurt.2010.05.003 20643381
24. Autoantibodies in autism spectrum disorders (ASD). Wills S, Cabanlit M, Bennett J, Ashwood P, Amaral D, Van de Water J, Ann NY Acad Sci 2007 1107 79 91 10.1196/annals.1381.009 17804535 (Pubitemid 47528784)
25. Prenatal viral infection leads to pyramidal cell atrophy and macrocephaly in adulthood: implications for genesis of autism and schizophrenia. Fatemi SH, Earle J, Kanodia R, Kist D, Emamian ES, Patterson PH, Shi L, Sidwell R, Cell Mol Neurobiol 2002 22 25 33 10.1023/A:1015337611258 12064515 (Pubitemid 34579406)
26. The immune response in autism: a new frontier for autism research. Ashwood P, Wills S, Van de Water J, J Leukoc Biol 2006 80 1 15 10.1189/jlb.1205707 16698940 (Pubitemid 44841805)
27. Mending the broken brain: neuroimmune interactions in neurogenesis. Molina-Holgado E, Molina-Holgado F, J Neurochem 2010 114 1277 1290 20534007
28. Psychoneuroimmunology - cross-talk between the immune and nervous systems. Ziemssen T, Kern S, J Neurol 2007 Suppl 2 I/8 II/11
29. Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study. Courchesne E, Karns CM, Davis HR, Ziccardi R, Carper RA, Tigue ZD, Chisum HJ, Moses P, Pierce K, Lord C, Lincoln AJ, Pizzo S, Schreibman L, Haas RH, Akshoomoff NA, Courchesne RY, Neurology 2001 57 245 254 10.1212/WNL.57.2.245 11468308 (Pubitemid 32667357)
30. Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders. Nordahl CW, Lange N, Li DD, Barnett LA, Lee A, Buonocore MH, Simon TJ, Rogers S, Ozonoff S, Amaral DG, Proc Natl Acad Sci U S A 2011 108 20195 20200 10.1073/pnas.1107560108 22123952
31. Magnetic resonance imaging and head circumference study of brain size in autism: birth through age 2 years. Hazlett HC, Poe M, Gerig G, Smith RG, Provenzale J, Ross A, Gilmore J, Piven J, Arch Gen Psychiatry 2005 62 1366 1376 10.1001/archpsyc.62.12.1366 16330725 (Pubitemid 41746614)
32. Longitudinal magnetic resonance imaging study of cortical development through early childhood in autism. Schumann CM, Bloss CS, Barnes CC, Wideman GM, Carper RA, Akshoomoff N, Pierce K, Hagler D, Schork N, Lord C, Courchesne E, J Neurosci 2010 30 4419 4427 10.1523/JNEUROSCI.5714-09.2010 20335478
33. Microcephaly and macrocephaly in autism. Fombonne E, Roge B, Claverie J, Courty S, Fremolle J, J Autism Dev Disord 1999 29 113 119 10.1023/A: 1023036509476 10382131 (Pubitemid 29275096)
34. Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism. Lainhart JE, Bigler ED, Bocian M, Coon H, Dinh E, Dawson G, Deutsch CK, Dunn M, Estes A, Tager-Flusberg H, Folstein S, Hepburn S, Hyman S, McMahon W, Minshew N, Munson J, Osann K, Ozonoff S, Rodier P, Rogers S, Sigman M, Spence MA, Stodgell CJ, Volkmar F, Am J Med Genet A 2006 140 2257 2274 17022081 (Pubitemid 44684952)
35. Compared to what? Early brain overgrowth in autism and the perils of population norms. Raznahan A, Wallace GL, Antezana L, Greenstein D, Lenroot R, Thurm A, Gozzi M, Spence S, Martin A, Swedo SE, Giedd JN, Biol Psychiatry 2013 doi:10.1016/j.biopsych.2013.03.022
36. Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait. Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH Jr, Kim SJ, Biol Psychiatry 2013 doi:10.1016/j.biopsych.2013.04.018
37. PTEN signaling in autism spectrum disorders. Zhou J, Parada LF, Curr Opin Neurobiol 2012 22 873 879 10.1016/j.conb.2012.05.004 22664040
38. The autistic neuron: troubled translation? Kelleher RJ, Bear MF, Cell 2008 135 401 406 10.1016/j.cell.2008.10.017 18984149
39. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C, J Med Genet 2005 42 318 321 10.1136/jmg.2004.024646 15805158 (Pubitemid 40523954)
40. Plasticity and mTOR: towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders. Gipson TT, Johnston MV, Neural Plast 2012 2012 486402 22619737
41. A novel mutation in the beta-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance. Romaniello R, Tonelli A, Arrigoni F, Baschirotto C, Triulzi F, Bresolin N, Bassi MT, Borgatti R, Dev Med Child Neurol 2012 54 765 769 10.1111/j.1469-8749.2012.04316. x 22591407
42. [Extreme microcephaly and growth retardation caused by mutations in a non-coding RNA component of the minor spliceosome]. Edery P, Alix E, Clerget-Darpoux F, Leutenegger AL, Med Sci (Paris) 2012 28 130 133 10.1051/medsci/2012282004
43. Microcephalin coordinates mitosis in the syncytial Drosophila embryo. Brunk K, Vernay B, Griffith E, Reynolds NL, Strutt D, Ingham PW, Jackson AP, J Cell Sci 2007 120 3578 3588 10.1242/jcs.014290 17895363 (Pubitemid 350120950)
44. Mild Nijmegen breakage syndrome phenotype due to alternative splicing. Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stockl L, Spadoni E, Kruger LA, di Masi A, Sperling K, Digweed M, Maraschio P, Hum Mol Genet 2006 15 679 689 10.1093/hmg/ddi482 16415040 (Pubitemid 43264693)
45. Aberrant RNA processing events in neurological disorders. Anthony K, Gallo JM, Brain Res 2010 1338 67 77 20226177
46. Alternative splicing: multiple control mechanisms and involvement in human disease. Caceres JF, Kornblihtt AR, Trends Genet 2002 18 186 193 10.1016/S0168-9525(01)02626-9 11932019 (Pubitemid 34273739)
47. Discovery of tissue-specific exons using comprehensive human exon microarrays. Clark TA, Schweitzer AC, Chen TX, Staples MK, Lu G, Wang H, Williams A, Blume JE, Genome Biol 2007 8 64 10.1186/gb-2007-8-4-r64 17456239 (Pubitemid 351859198)
48. Dysfunctional gene splicing as a potential contributor to neuropsychiatric disorders. Glatt SJ, Cohen OS, Faraone SV, Tsuang MT, Am J Med Genet B Neuropsychiatr Genet 2011 156B 382 392 21438146
49. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. Lord C, Risi S, Lambrecht L, Cook E, Leventhal B, DiLavore P, Pickles A, Rutter M, J Autism Dev Disord 2000 30 205 223 10.1023/A:1005592401947 11055457
50. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Lord C, Rutter M, Le Couteur A, J Autism Dev Disord 1994 24 659 685 10.1007/BF02172145 7814313 (Pubitemid 24309810)
51. Standardizing ADOS scores for a measure of severity in autism spectrum disorders. Gotham K, Pickles A, Lord C, J Autism Dev Disord 2009 39 693 705 10.1007/s10803-008-0674-3 19082876
52. Mullen EM, Mullen Scales of Early Learning Pines, MN: American Guidance Service 1995
53. The Social Communication Questionnaire Los Angeles, CA: Western Psychological Services, Rutter M, Bailey A, Lord C, 2003
54. Associations of impaired behaviors with elevated plasma chemokines in autism spectrum disorders. Ashwood P, Krakowiak P, Hertz-Picciotto I, Hansen R, Pessah IN, Van de Water J, J Neuroimmunol 2011 232 196 199 10.1016/j.jneuroim. 2010.10.025 21095018
55. GABA- and acetylcholine-related gene expression in blood correlate with tic severity and microarray evidence for alternative splicing in Tourette syndrome: a pilot study. Tian Y, Liao IH, Gunther JR, Liu D, Ander BP, Stamova BS, Lit L, Jickling GC, Xu H, Zhan X, Sharp FR, Brain Res 2011 14 14
56. Tamhane A, Dunlop D, Statistics and Data Analysis: From Elementary to Intermediate Upper Saddle River, NJ: Prentice Hall 2000
57. The assumptions underlying the analysis of variance. Eisenhart C, Biometrics 1947 3 20
58. Identifying differentially expressed genes using false discovery rate controlling procedures. Reiner A, Yekutieli D, Benjamini Y, Bioinformatics 2003 19 368 375 10.1093/bioinformatics/btf877 12584122 (Pubitemid 36284936)
59. Altered gene expression and function of peripheral blood natural killer cells in children with autism. Enstrom AM, Lit L, Onore CE, Gregg JP, Hansen RL, Pessah IN, Hertz-Picciotto I, Van de Water JA, Sharp FR, Ashwood P, Brain Behav Immun 2009 23 124 133 10.1016/j.bbi.2008.08.001 18762240
60. Gene expression changes in children with autism. Gregg JP, Lit L, Baron CA, Hertz-Picciotto I, Walker W, Davis RA, Croen LA, Ozonoff S, Hansen R, Pessah IN, Sharp FR, Genomics 2008 91 22 29 10.1016/j.ygeno.2007.09.003 18006270 (Pubitemid 350298392)
61. QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders. Lu AT, Yoon J, Geschwind DH, Cantor RM, Mol Psychiatry 2013 18 226 235 10.1038/mp.2011.155 22105621
62. Differential monocyte responses to TLR ligands in children with autism spectrum disorders. Enstrom AM, Onore CE, Van de Water JA, Ashwood P, Brain Behav Immun 2010 24 64 71 10.1016/j.bbi.2009.08.001 19666104
63. Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase. Li Y, Huang TT, Carlson EJ, Melov S, Ursell PC, Olson JL, Noble LJ, Yoshimura MP, Berger C, Chan PH, Wallace DC, Epstein CJ, Nat Genet 1995 11 376 381 10.1038/ng1295-376 7493016
64. Emerging roles of Nrf2 and phase II antioxidant enzymes in neuroprotection. Zhang M, An C, Gao Y, Leak RK, Chen J, Zhang F, Prog Neurobiol 2013 100 30 47 23025925
65. Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism. Melnyk S, Fuchs GJ, Schulz E, Lopez M, Kahler SG, Fussell JJ, Bellando J, Pavliv O, Rose S, Seidel L, Gaylor DW, James SJ, J Autism Dev Disord 2012 42 367 377 10.1007/s10803-011-1260-7 21519954
66. Intracellular and extracellular redox status and free radical generation in primary immune cells from children with autism. Rose S, Melnyk S, Trusty TA, Pavliv O, Seidel L, Li J, Nick T, James SJ, Autism Res Treatment 2012 2012 986519
67. Evidence of oxidative damage and inflammation associated with low glutathione redox status in the autism brain. Rose S, Melnyk S, Pavliv O, Bai S, Nick TG, Frye RE, James SJ, Transl Psychiatry 2012 2 134 10.1038/tp.2012.61 22781167
68. Non-protein-bound iron and 4-hydroxynonenal protein adducts in classic autism. Pecorelli A, Leoncini S, De Felice C, Signorini C, Cerrone C, Valacchi G, Ciccoli L, Hayek J, Brain Dev 2013 35 146 154 10.1016/j.braindev.2012.03.011 22534237
69. Blood lipid peroxidation, antioxidant enzyme activities and hemorheological changes in autistic children. Laszlo A, Novak Z, Szollosi-Varga I, du Hai Q, Vetro A, Kovacs A, Ideggyogy Sz 2013 66 23 28 23607226
70. Evaluation of oxidative stress in autism: defective antioxidant enzymes and increased lipid peroxidation. Meguid NA, Dardir AA, Abdel-Raouf ER, Hashish A, Biol Trace Elem Res 2011 143 58 65 10.1007/s12011-010-8840-9 20845086
71. Oxidative stress-related biomarkers in autism: Systematic review and meta-analyses. Frustaci A, Neri M, Cesario A, Adams JB, Domenici E, Dalla Bernardina B, Bonassi S, Free Radic Biol Med 2012 52 2128 2141 10.1016/j.freeradbiomed.2012.03.011 22542447
72. Brain region-specific glutathione redox imbalance in autism. Chauhan A, Audhya T, Chauhan V, Neurochem Res 2012 37 1681 1689 10.1007/s11064-012-0775-4 22528835
73. Brain region-specific altered expression and association of mitochondria-related genes in autism. Anitha A, Nakamura K, Thanseem I, Yamada K, Iwayama Y, Toyota T, Matsuzaki H, Miyachi T, Yamada S, Tsujii M, Tsuchiya KJ, Matsumoto K, Iwata Y, Suzuki K, Ichikawa H, Sugiyama T, Yoshikawa T, Mori N, Mol Autism 2012 3 12 10.1186/2040-2392-3-12 23116158
74. Analyzing microarray data of Alzheimer's using cluster analysis to identify the biomarker genes. Guttula SV, Allam A, Gumpeny RS, Int J Alzheimers Dis 2012 2012 649456 22482075
75. Whitesnake/sfpq is required for cell survival and neuronal development in the zebrafish. Lowery LA, Rubin J, Sive H, Dev Dyn 2007 236 1347 1357 10.1002/dvdy.21132 17393485 (Pubitemid 46750267)
76. Distribution of SRPK1 in human brain. Mytilinaios DG, Tsamis KI, Nikolakaki E, Giannakouros T, J Chem Neuroanat 2012 43 20 27 10.1016/j.jchemneu.2011.10.002 22019390
77. The major reverse transcriptase-incompetent splice variant of the human telomerase protein inhibits telomerase activity but protects from apoptosis. Listerman I, Sun J, Gazzaniga FS, Lukas JL, Blackburn EH, Cancer Res 2013 73 2817 2828 10.1158/0008-5472.CAN-12-3082 23610451
78. Fused in sarcoma (FUS): an oncogene goes awry in neurodegeneration. Dormann D, Haass C, Mol Cell Neurosci 2013 doi:10.1016/j.mcn.2013.03.006
79. Characterization and expression analysis in the developing embryonic brain of the porcine FET family: FUS, EWS, and TAF15. Blechingberg J, Holm IE, Nielsen AL, Gene 2012 493 27 35 10.1016/j.gene.2011.11.038 22143032
80. Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy. Workman E, Kolb SJ, Battle DJ, Brain Res 2012 1462 93 99 22424789
81. RNA splicing: disease and therapy. Douglas AG, Wood MJ, Brief Funct Genomics 2011 10 151 164 10.1093/bfgp/elr020 21628314
82. Synaptic signaling and aberrant RNA splicing in autism spectrum disorders. Smith RM, Sadee W, Front Synaptic Neurosci 2011 3 1 21423409
83. Hyperphosphorylation of RNA polymerase II and reduced neuronal RNA levels precede neurofibrillary tangles in Alzheimer disease. Husseman JW, Hallows JL, Bregman DB, Leverenz JB, Nochlin D, Jin LW, Vincent I, J Neuropathol Exp Neurol 2001 60 1219 1232 11764094 (Pubitemid 33117102)
84. The transcriptional mediator component Med12 is required for hindbrain boundary formation. Hong SK, Dawid IB, PLoS One 2011 6 19076 10.1371/journal.pone.0019076 21533047
85. A subunit of the mediator complex regulates vertebrate neuronal development. Wang X, Yang N, Uno E, Roeder RG, Guo S, Proc Natl Acad Sci USA 2006 103 17284 17289 10.1073/pnas.0605414103 17088561 (Pubitemid 44788961)
86. MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling. Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG, Proc Natl Acad Sci USA 2012 109 19763 19768 10.1073/pnas.1121120109 23091001
87. Mammalian alteration/deficiency in activation 3 (Ada3) is essential for embryonic development and cell cycle progression. Mohibi S, Gurumurthy CB, Nag A, Wang J, Mirza S, Mian Y, Quinn M, Katafiasz B, Eudy J, Pandey S, Guda C, Naramura M, Band H, Band V, J Biol Chem 2012 287 29442 29456 10.1074/jbc.M112.378901 22736770
88. Crystal structure of the N-terminal region of human Ash2L shows a winged-helix motif involved in DNA binding. Chen Y, Wan B, Wang KC, Cao F, Yang Y, Protacio A, Dou Y, Chang HY, Lei M, EMBO Rep 2011 12 797 803 10.1038/embor.2011.101 21660059
89. Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis. Nicholas B, Rudrasingham V, Nash S, Kirov G, Owen MJ, Wimpory DC, Mol Psychiatry 2007 12 581 592 10.1038/sj.mp.4001953 17264841 (Pubitemid 46816770)
90. The human perforin gene is a direct target of STAT4 activated by IL-12 in NK cells. Yamamoto K, Shibata F, Miyasaka N, Miura O, Biochem Biophys Res Commun 2002 297 1245 1252 10.1016/S0006-291X(02)02378-1 12372421 (Pubitemid 35216381)
91. Co-transcriptional regulation of alternative pre-mRNA splicing. Shukla S, Oberdoerffer S, Biochim Biophys Acta 1819 2012 673 683
92. Coupling transcription and alternative splicing. Kornblihtt AR, Adv Exp Med Biol 2007 623 175 189 10.1007/978-0-387-77374-2-11 18380347
93. Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A. Guffanti G, Strik Lievers L, Bonati MT, Marchi M, Geronazzo L, Nardocci N, Estienne M, Larizza L, Macciardi F, Russo S, Psychiatry Res 2011 185 33 38 10.1016/j.psychres.2010.04. 057 20609483
94. Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes. Baron CA, Tepper CG, Liu SY, Davis RR, Wang NJ, Schanen NC, Gregg JP, Hum Mol Genet 2006 15 853 869 10.1093/hmg/ddl004 16446308 (Pubitemid 43338228)
95. AutDB: a gene reference resource for autism research. Basu SN, Kollu R, Banerjee-Basu S, Nucleic Acids Res 2009 37 832 836 10.1093/nar/gkn941 19095693
96. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE, Nat Genet 2011 43 585 589 10.1038/ng.835 21572417
97. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE, Nature 2012 485 246 250 10.1038/nature10989 22495309
98. Cerebral amyloid angiopathy. Yamada M, Naiki H, Prog Mol Biol Transl Sci 2012 107 41 78 22482447
99. Gelsolin levels are increased in the brain as a function of age during normal development in children that are further increased in Down syndrome. Ji L, Chauhan A, Muthaiyah B, Wegiel J, Chauhan V, Alzheimer Dis Assoc Disord 2009 23 319 322 10.1097/WAD.0b013e31819d494e 19561443
100. The actin-severing protein gelsolin modulates calcium channel and NMDA receptor activities and vulnerability to excitotoxicity in hippocampal neurons. Furukawa K, Fu W, Li Y, Witke W, Kwiatkowski DJ, Mattson MP, J Neurosci 1997 17 8178 8186 9334393 (Pubitemid 27461042)
101. Cells of the neuronal lineage play a major role in the generation of amyloid precursor fragments in gelsolin-related amyloidosis. Paunio T, Kangas H, Heinonen O, Buc-Caron MH, Robert JJ, Kaasinen S, Julkunen I, Mallet J, Peltonen L, J Biol Chem 1998 273 16319 16324 10.1074/jbc.273.26.16319 9632693 (Pubitemid 28311410)
102. A novel gelsolin isoform expressed by oligodendrocytes in the central nervous system. Vouyiouklis DA, Brophy PJ, J Neurochem 1997 69 995 1005 9282921 (Pubitemid 27364819)
103. A novel neurofibromin (NF1) interaction with the leucine-rich pentatricopeptide repeat motif-containing protein links neurofibromatosis type 1 and the French Canadian variant of Leigh's syndrome in a common molecular complex. Arun V, Wiley JC, Kaur H, Kaplan DR, Guha A, J Neurosci Res 2013 91 494 505 10.1002/jnr.23189 23361976
104. A novel X-linked disorder with developmental delay and autistic features. Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT, Ann Neurol 2012 71 498 508 10.1002/ana.22673 22213401
105. Sox10 cooperates with the mediator subunit 12 during terminal differentiation of myelinating glia. Vogl MR, Reiprich S, Kuspert M, Kosian T, Schrewe H, Nave KA, Wegner M, J Neurosci 2013 33 6679 6690 10.1523/JNEUROSCI. 5178-12.2013 23575864
106. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J, Science 2012 338 1619 1622 10.1126/science.1227764 23160955
107. Reversible SUMOylation of TBL1-TBLR1 regulates beta-catenin-mediated Wnt signaling. Choi HK, Choi KC, Yoo JY, Song M, Ko SJ, Kim CH, Ahn JH, Chun KH, Yook JI, Yoon HG, Mol Cell 2011 43 203 216 10.1016/j.molcel.2011.05.027 21777810
108. Chemokines, mononuclear cells and the nervous system: heaven (or hell) is in the details. Rebenko-Moll NM, Liu L, Cardona A, Ransohoff RM, Curr Opin Immunol 2006 18 683 689 10.1016/j.coi.2006.09.005 17010588 (Pubitemid 44635175)
109. Neuroglial activation and neuroinflammation in the brain of patients with autism. Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA, Ann Neurol 2005 57 67 81 10.1002/ana.20315 15546155 (Pubitemid 40053317)
110. Targeted treatment trials for tuberous sclerosis and autism: no longer a dream. Sahin M, Curr Opin Neurobiol 2012 22 895 901 10.1016/j.conb.2012.04.008 22560338
111. Autism: many genes, common pathways? Geschwind DH, Cell 2008 135 391 395 10.1016/j.cell.2008.10.016 18984147
112. The role of immune dysfunction in the pathophysiology of autism. Onore C, Careaga M, Ashwood P, Brain Behav Immun 2012 26 383 392 10.1016/j.bbi.2011.08. 007 21906670
113. Characterization and expression of the gene encoding membralin, an evolutionary conserved protein expressed in the central nervous system. Andersson O, von Euler G, Brain Res Gene Expr Patterns 2002 1 205 212 10.1016/S1567-133X(02)00019-4 12638133
114. Identification and characterization of membralin, a novel tumor-associated gene, in ovarian carcinoma. Chen YC, Davidson B, Cheng CC, Maitra A, Giuntoli RL 2nd, Hruban RH, Wang TL, Shih IM, Biochim Biophys Acta 2005 1730 96 102 10.1016/j.bbaexp.2005.06.008 16084606 (Pubitemid 41133467)
115. Strong association of de novo copy number mutations with autism. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimaki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, et al. Science 2007 316 445 449 10.1126/science.1138659 17363630 (Pubitemid 46651493)