-
1
-
-
75849145292
-
Expansion of the eukaryotic proteome by alternative splicing
-
Nilsen, T. W., Graveley, B. R. Expansion of the eukaryotic proteome by alternative splicing. Nature 463, 457-463, doi: 10.1038/nature08909 (2010).
-
(2010)
Nature
, vol.463
, pp. 457-463
-
-
Nilsen, T.W.1
Graveley, B.R.2
-
2
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander, E. S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860-921, doi: 10.1038/35057062 (2001).
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
-
3
-
-
0035865239
-
Evolutionary analyses of the human genome
-
Li, W. H., Gu, Z. L., Wang, H. D., Nekrutenko, A. Evolutionary analyses of the human genome. Nature 409, 847-849, doi: 10.1038/35057039 (2001).
-
(2001)
Nature
, vol.409
, pp. 847-849
-
-
Li, W.H.1
Gu, Z.L.2
Wang, H.D.3
Nekrutenko, A.4
-
4
-
-
0036064148
-
Alu-containing exons are alternatively spliced
-
Sorek, R., Ast, G., Graur, D. Alu-containing exons are alternatively spliced. Genome Research 12, 1060-1067, doi: 10.1101/gr.229302 (2002).
-
(2002)
Genome Research
, vol.12
, pp. 1060-1067
-
-
Sorek, R.1
Ast, G.2
Graur, D.3
-
5
-
-
55249106663
-
Diverse Splicing Patterns of Exonized Alu Elements in Human Tissues
-
Lin, L. et al. Diverse Splicing Patterns of Exonized Alu Elements in Human Tissues. Plos Genetics 4, 13, doi: 10.1371/journal. pgen.1000225 (2008).
-
(2008)
Plos Genetics
, vol.4
, pp. 13
-
-
Lin, L.1
-
6
-
-
77951120000
-
Alternative splicing and evolution: Diversification, exon definition and function
-
Keren, H., Lev-Maor, G., Ast, G. Alternative splicing and evolution: diversification, exon definition and function. Nature Reviews Genetics 11, 345-355, doi: 10.1038/nrg2776 (2010).
-
(2010)
Nature Reviews Genetics
, vol.11
, pp. 345-355
-
-
Keren, H.1
Lev-Maor, G.2
Ast, G.3
-
7
-
-
80053564717
-
Exonization of transposed elements: A challenge and opportunity for evolution
-
Schmitz, J., Brosius, J. Exonization of transposed elements: A challenge and opportunity for evolution. Biochimie 93, 1928-1934, doi: 10.1016/j.biochi.2011.07.014 (2011).
-
(2011)
Biochimie
, vol.93
, pp. 1928-1934
-
-
Schmitz, J.1
Brosius, J.2
-
8
-
-
0037422575
-
Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans
-
Lewis, B. P., Green, R. E., Brenner, S. E. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proceedings of the National Academy of Sciences of the United States of America 100, 189-192, doi: 10.1073/pnas.0136770100 (2003).
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, pp. 189-192
-
-
Lewis, B.P.1
Green, R.E.2
Brenner, S.E.3
-
9
-
-
84945442257
-
Nonsense-mediated mRNA decay: An intricate machinery that shapes transcriptomes
-
Lykke-Anderson, S., Jensen, T. H. Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes. Nature Reviews Molecular Cell Biology 16, 665-677, doi: 10.1038/nrm4063 (2015).
-
(2015)
Nature Reviews Molecular Cell Biology
, vol.16
, pp. 665-677
-
-
Lykke-Anderson, S.1
Jensen, T.H.2
-
10
-
-
84877830445
-
Regulation of nonsense-mediated mRNA decay: Implications for physiology and disease
-
Karam, R., Wengrod, J., Gardner, L. B., Wilkinson, M. F. Regulation of nonsense-mediated mRNA decay: Implications for physiology and disease. Biochimica Et Biophysica Acta-Gene Regulatory Mechanisms 1829, 624-633, doi: 10.1016/j. bbagrm.2013.03.002 (2013).
-
(2013)
Biochimica et Biophysica Acta-Gene Regulatory Mechanisms
, vol.1829
, pp. 624-633
-
-
Karam, R.1
Wengrod, J.2
Gardner, L.B.3
Wilkinson, M.F.4
-
11
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-165, doi: 10.1016/0092-8674(95)90460-3 (1995).
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
-
12
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson, C. L., Hahnen, E., Androphy, E. J., Wirth, B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America 96, 6307-6311, doi: 10.1073/pnas.96.11.6307 (1999).
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
13
-
-
84930902559
-
Disease mechanisms and therapeutic approaches in spinal muscular atrophy
-
Tisdale, S., Pellizzoni, L. Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy. Journal of Neuroscience 35, 8691-8700, doi: 10.1523/jneurosci.0417-15.2015 (2015).
-
(2015)
Journal of Neuroscience
, vol.35
, pp. 8691-8700
-
-
Tisdale, S.1
Pellizzoni, L.2
-
14
-
-
84962274560
-
Molecular mechanisms of neurodegeneration in Spinal Muscular Atrophy
-
Ahmad, S., Bhatia, K., Kannan & Gangwani, L. Molecular mechanisms of neurodegeneration in Spinal Muscular Atrophy. Journal of Experimental Neuroscience 10, 39-49, doi: 10.4137/JEN.S33122 (2016).
-
(2016)
Journal of Experimental Neuroscience
, vol.10
, pp. 39-49
-
-
Ahmad, S.1
Kannan, B.K.2
Gangwani, L.3
-
15
-
-
79961137129
-
Structure of a key intermediate of the SMN complex reveals gemin2's crucial function in snRNP assembly
-
Zhang, R. D. et al. Structure of a Key Intermediate of the SMN Complex Reveals Gemin2's Crucial Function in snRNP Assembly. Cell 146, 384-395, doi: 10.1016/j.cell.2011.06.043 (2011).
-
(2011)
Cell
, vol.146
, pp. 384-395
-
-
Zhang, R.D.1
-
16
-
-
84953897634
-
SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination
-
Zhao, D. Y. et al. SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination. Nature 529, 48-53, doi: 10.1038/nature16469 (2016).
-
(2016)
Nature
, vol.529
, pp. 48-53
-
-
Zhao, D.Y.1
-
17
-
-
84873044474
-
A novel function for the survival motoneuron protein as a translational regulator
-
Sanchez, G. et al. A novel function for the survival motoneuron protein as a translational regulator. Human Molecular Genetics 22, 668-684, doi: 10.1093/hmg/dds474 (2013).
-
(2013)
Human Molecular Genetics
, vol.22
, pp. 668-684
-
-
Sanchez, G.1
-
18
-
-
80051491310
-
Purification of the Human SMN-GEMIN2 Complex and Assessment of Its Stimulation of RAD51-Mediated DNA Recombination Reactions
-
Takaku, M. et al. Purification of the Human SMN-GEMIN2 Complex and Assessment of Its Stimulation of RAD51-Mediated DNA Recombination Reactions. Biochemistry 50, 6797-6805, doi: 10.1021/bi200828g (2011).
-
(2011)
Biochemistry
, vol.50
, pp. 6797-6805
-
-
Takaku, M.1
-
19
-
-
84875435719
-
Implication of the SMN complex in the biogenesis and steady state level of the Signal Recognition Particle
-
Piazzon, N. et al. Implication of the SMN complex in the biogenesis and steady state level of the Signal Recognition Particle. Nucleic Acids Research 41, 1255-1272, doi: 10.1093/nar/gks1224 (2013).
-
(2013)
Nucleic Acids Research
, vol.41
, pp. 1255-1272
-
-
Piazzon, N.1
-
20
-
-
79955560592
-
SMN deficiency reduces cellular ability to form stress granules sensitizing cells to stress
-
Zou, T. et al. SMN Deficiency Reduces Cellular Ability to Form Stress Granules, Sensitizing Cells to Stress. Cellular and Molecular Neurobiology 31, 541-550, doi: 10.1007/s10571-011-9647-8 (2011).
-
(2011)
Cellular and Molecular Neurobiology
, vol.31
, pp. 541-550
-
-
Zou, T.1
-
21
-
-
84861727730
-
The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy
-
Ahmad, S., Wang, Y., Shaik, G. M., Burghes, A. H., Gangwani, L. The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. Human Molecular Genetics 21, 2745-2758, doi: 10.1093/hmg/dds102 (2012).
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 2745-2758
-
-
Ahmad, S.1
Wang, Y.2
Shaik, G.M.3
Burghes, A.H.4
Gangwani, L.5
-
22
-
-
84874802390
-
Shift from Extracellular Signal-Regulated Kinase to AKT/cAMP Response Element-Binding Protein Pathway Increases Survival-Motor-Neuron Expression in Spinal-Muscular-Atrophy-Like Mice and Patient Cells
-
Branchu, J. et al. Shift from Extracellular Signal-Regulated Kinase to AKT/cAMP Response Element-Binding Protein Pathway Increases Survival-Motor-Neuron Expression in Spinal-Muscular-Atrophy-Like Mice and Patient Cells. Journal of Neuroscience 33, 4280-4294, doi: 10.1523/jneurosci.2728-12.2013 (2013).
-
(2013)
Journal of Neuroscience
, vol.33
, pp. 4280-4294
-
-
Branchu, J.1
-
23
-
-
79954519035
-
The COPI vesicle complex binds and moves with survival motor neuron within axons
-
Peter, C. J. et al. The COPI vesicle complex binds and moves with survival motor neuron within axons. Human Molecular Genetics 20, 1701-1711, doi: 10.1093/hmg/ddr046 (2011).
-
(2011)
Human Molecular Genetics
, vol.20
, pp. 1701-1711
-
-
Peter, C.J.1
-
24
-
-
79952390939
-
The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons
-
Fallini, C. et al. The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons. Journal of Neuroscience 31, 3914-3925, doi: 10.1523/jneurosci.3631-10.2011 (2011).
-
(2011)
Journal of Neuroscience
, vol.31
, pp. 3914-3925
-
-
Fallini, C.1
-
25
-
-
84905195828
-
Advances in therapeutic development for spinal muscular atrophy
-
Howell, M. D., Singh, N. N., Singh, R. N. Advances in therapeutic development for spinal muscular atrophy. Future Medicinal Chemistry 6, 1081-1099, doi: 10.4155/fmc.14.63 (2014).
-
(2014)
Future Medicinal Chemistry
, vol.6
, pp. 1081-1099
-
-
Howell, M.D.1
Singh, N.N.2
Singh, R.N.3
-
26
-
-
84939622062
-
Oligomeric properties of survival motor neuron.Gemin2 Complexes
-
Gupta, K. et al. Oligomeric Properties of Survival Motor Neuron.Gemin2 Complexes. Journal of Biological Chemistry 290, 20185-20199, doi: 10.1074/jbc.M115.667279 (2015).
-
(2015)
Journal of Biological Chemistry
, vol.290
, pp. 20185-20199
-
-
Gupta, K.1
-
27
-
-
0042202619
-
Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization
-
Zhang, H. L. L. et al. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. Journal of Neuroscience 23, 6627-6637 (2003).
-
(2003)
Journal of Neuroscience
, vol.23
, pp. 6627-6637
-
-
Zhang, H.L.L.1
-
28
-
-
77649114471
-
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
-
Cho, S. C., Dreyfuss, G. A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes & Development 24, 438-442, doi: 10.1101/gad.1884910 (2010).
-
(2010)
Genes & Development
, vol.24
, pp. 438-442
-
-
Cho, S.C.1
Dreyfuss, G.2
-
29
-
-
84868564376
-
The Survival Motor Neuron Protein Forms Soluble Glycine Zipper Oligomers
-
Martin, R., Gupta, K., Ninan, N. S., Perry, K., Van Duyne, G. D. The Survival Motor Neuron Protein Forms Soluble Glycine Zipper Oligomers. Structure 20, 1929-1939, doi: 10.1016/j.str.2012.08.024 (2012).
-
(2012)
Structure
, vol.20
, pp. 1929-1939
-
-
Martin, R.1
Gupta, K.2
Ninan, N.S.3
Perry, K.4
Van Duyne, G.D.5
-
30
-
-
84957589892
-
Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy
-
Ottesen, E. W. et al. Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy. Scientific Reports 6, 20193, doi: 10.1038/srep20193 (2016).
-
(2016)
Scientific Reports
, vol.6
, pp. 20193
-
-
Ottesen, E.W.1
-
31
-
-
84869843549
-
A Multi-Exon-Skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes
-
Singh, N. N., Seo, J., Rahn, S. J., Singh, R. N. A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes. Plos One 7, 17, doi: 10.1371/journal.pone.0049595 (2012).
-
(2012)
Plos One
, vol.7
, pp. 17
-
-
Singh, N.N.1
Seo, J.2
Rahn, S.J.3
Singh, R.N.4
-
32
-
-
84867137359
-
Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models
-
Osborne, M. et al. Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. Human Molecular Genetics 21, 4431-4447, doi: 10.1093/hmg/dds285 (2012).
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 4431-4447
-
-
Osborne, M.1
-
33
-
-
41849135100
-
Alternative splicing of Alu exons-two arms are better than one
-
Gal-Mark, N., Schwartz, S., Ast, G. Alternative splicing of Alu exons-two arms are better than one. Nucleic Acids Research 36, 2012-2023, doi: doi: 10.1093/nar/gkn024 (2008).
-
(2008)
Nucleic Acids Research
, vol.36
, pp. 2012-2023
-
-
Gal-Mark, N.1
Schwartz, S.2
Ast, G.3
-
34
-
-
84975299280
-
Gain of a New Exon by a Lineage-Specific alu Element-Integration event in the BCS1L gene during primate evolution
-
Park, S. J. et al. Gain of a New Exon by a Lineage-Specific Alu Element-Integration Event in the BCS1L Gene during Primate Evolution. Molecules and Cells 38, 950-958, doi: 10.14348/molcells.2015.0121 (2015).
-
(2015)
Molecules and Cells
, vol.38
, pp. 950-958
-
-
Park, S.J.1
-
35
-
-
84873323035
-
Direct Competition between hnRNP C and U2AF65 protects the transcriptome from the exonization of alu elements
-
Zarnack, K. et al. Direct Competition between hnRNP C and U2AF65 Protects the Transcriptome from the Exonization of Alu Elements. Cell 152, 453-466, doi: 10.1016/j.cell.2012.12.023 (2013).
-
(2013)
Cell
, vol.152
, pp. 453-466
-
-
Zarnack, K.1
-
36
-
-
84863876697
-
Regulation of cyclin T1 expression and function by an alternative splice variant that skips exon 7 and contains a premature termination codon
-
Urano, E., Miyauchi, K., Ichikawa, R., Futahashi, Y., Komano, J. Regulation of cyclin T1 expression and function by an alternative splice variant that skips exon 7 and contains a premature termination codon. Gene 505, 1-8, doi: 10.1016/j.gene.2012.06.006 (2012).
-
(2012)
Gene
, vol.505
, pp. 1-8
-
-
Urano, E.1
Miyauchi, K.2
Ichikawa, R.3
Futahashi, Y.4
Komano, J.5
-
37
-
-
84957693537
-
Nonsense-mediated mRNA decay in humans at a glance
-
Kurosaki, T., Maquat, L. E. Nonsense-mediated mRNA decay in humans at a glance. Journal of Cell Science 129, 461-467, doi: 10.1242/jcs.181008 (2016).
-
(2016)
Journal of Cell Science
, vol.129
, pp. 461-467
-
-
Kurosaki, T.1
Maquat, L.E.2
-
38
-
-
26444611461
-
Transmembrane glycine zippers: Physiological and pathological roles in membrane proteins
-
Kim, S. et al. Transmembrane glycine zippers: Physiological and pathological roles in membrane proteins. Proceedings of the National Academy of Sciences of the United States of America 102, 14278-14283, doi: 10.1073/pnas.0501234102 (2005).
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, pp. 14278-14283
-
-
Kim, S.1
-
39
-
-
4143097170
-
Survival motor neuron protein facilitates assembly of stress granules
-
Hua, Y. M., Zhou, J. H. Survival motor neuron protein facilitates assembly of stress granules. Febs Letters 572, 69-74, doi: 10.1016/j. febslet.2004.07.010 (2004).
-
(2004)
Febs Letters
, vol.572
, pp. 69-74
-
-
Hua, Y.M.1
Zhou, J.H.2
-
40
-
-
84884587610
-
Stress granules and cell signaling: More than just a passing phase?
-
Kedersha, N., Ivanov, P., Anderson, P. Stress granules and cell signaling: more than just a passing phase? Trends in Biochemical Sciences 38, 494-506, doi: 10.1016/j.tibs.2013.07.004 (2013).
-
(2013)
Trends in Biochemical Sciences
, vol.38
, pp. 494-506
-
-
Kedersha, N.1
Ivanov, P.2
Anderson, P.3
-
41
-
-
85012077582
-
Comprehensive Protein Interactome Analysis of a Key RNA Helicase: Detection of Novel Stress Granule Proteins
-
Bish, R. et al. Comprehensive Protein Interactome Analysis of a Key RNA Helicase: Detection of Novel Stress Granule Proteins. Biomolecules 5, 1441-1466, doi: 10.3390/biom5031441 (2015).
-
(2015)
Biomolecules
, vol.5
, pp. 1441-1466
-
-
Bish, R.1
-
42
-
-
84990931802
-
Transposable elements modulate human RNA abundance and splicing via specific RNA-protein interactions
-
Kelley, D. R., Hendrickson, D. G., Tenen, D., Rinn, J. L. Transposable elements modulate human RNA abundance and splicing via specific RNA-protein interactions. Genome Biology 15, 537, doi: 10.1186/s13059-014-0537-5 (2014).
-
(2014)
Genome Biology
, vol.15
, pp. 537
-
-
Kelley, D.R.1
Hendrickson, D.G.2
Tenen, D.3
Rinn, J.L.4
-
43
-
-
84878888946
-
Regulation of axon guidance by compartmentalized Nonsense-Mediated mRNA decay
-
Colak, D., Ji, S. J., Porse, B. T., Jaffrey, S. R. Regulation of Axon Guidance by Compartmentalized Nonsense-Mediated mRNA Decay. Cell 153, 1252-1265, doi: 10.1016/j.cell.2013.04.056 (2013).
-
(2013)
Cell
, vol.153
, pp. 1252-1265
-
-
Colak, D.1
Ji, S.J.2
Porse, B.T.3
Jaffrey, S.R.4
-
44
-
-
84975074328
-
Intergenic Alu exonisation facilitates the evolution of tissue-specific transcript ends
-
Tajnik, M. et al. Intergenic Alu exonisation facilitates the evolution of tissue-specific transcript ends. Nucleic Acids Research 43, 10492-10505, doi: 10.1093/nar/gkv956 (2015).
-
(2015)
Nucleic Acids Research
, vol.43
, pp. 10492-10505
-
-
Tajnik, M.1
-
45
-
-
79952253395
-
TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy
-
Singh, N. N. et al. TIA1 Prevents Skipping of a Critical Exon Associated with Spinal Muscular Atrophy. Molecular and Cellular Biology 31, 935-954, doi: 10.1128/mcb.00945-10 (2011).
-
(2011)
Molecular and Cellular Biology
, vol.31
, pp. 935-954
-
-
Singh, N.N.1
-
46
-
-
65449136284
-
TopHat: Discovering splice junctions with RNA-Seq
-
Trapnell, C., Pachter, L., Salzberg, S. L. TopHat: discovering splice junctions with RNA-Seq. Bioinformatics 25, 1105-1111, doi: 10.1093/bioinformatics/btp120 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 1105-1111
-
-
Trapnell, C.1
Pachter, L.2
Salzberg, S.L.3
-
47
-
-
78651271733
-
Integrative genomics viewer
-
Robinson, J. T. et al. Integrative genomics viewer. Nature Biotechnology 29, 24-26, doi: 10.1038/nbt.1754 (2011).
-
(2011)
Nature Biotechnology
, vol.29
, pp. 24-26
-
-
Robinson, J.T.1
-
48
-
-
84885431817
-
High-Resolution comparative modeling with RosettaCM
-
Song, Y. F. et al. High-Resolution Comparative Modeling with RosettaCM. Structure 21, 1735-1742, doi: 10.1016/j.str.2013.08.005 (2013).
-
(2013)
Structure
, vol.21
, pp. 1735-1742
-
-
Song, Y.F.1
|