Entry |
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Name |
Mutation-caused aberrant GLE1 to nuclear export of mRNA
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Definition |
(mRNA(nuclear)+CBP+ALY+SR+TAP+p15) // (NPC+GLE1*+DDX19B) // (mRNA(cytoplasmic),CBP,ALY,SR,TAP,p15) |
Expanded |
(C00046+4686+10189+(6428,6432)+10482+(29107,55916)) // ((81929+55746+57122+79023+23279+79902+348995+23636+9818+53371+9688+23165+23511+9631+129401+23225+55706+9883+8021+4927+5903)+2733v1+11269) // (C00046,4686,10189,(6428,6432),10482,(29107,55916)) |
Class |
nt06464 Amyotrophic lateral sclerosis
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Type |
Variant
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Pathway |
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Disease |
H00058 | Amyotrophic lateral sclerosis (ALS) |
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Gene |
4686 | NCBP1; nuclear cap binding protein subunit 1 |
10189 | ALYREF; Aly/REF export factor |
6428 | SRSF3; serine and arginine rich splicing factor 3 |
6432 | SRSF7; serine and arginine rich splicing factor 7 |
10482 | NXF1; nuclear RNA export factor 1 |
29107 | NXT1; nuclear transport factor 2 like export factor 1 |
55916 | NXT2; nuclear transport factor 2 like export factor 2 |
81929 | SEH1L; SEH1 like nucleoporin |
55746 | NUP133; nucleoporin 133 |
57122 | NUP107; nucleoporin 107 |
79023 | NUP37; nucleoporin 37 |
23279 | NUP160; nucleoporin 160 |
79902 | NUP85; nucleoporin 85 |
23636 | NUP62; nucleoporin 62 |
9818 | NUP58; nucleoporin 58 |
53371 | NUP54; nucleoporin 54 |
9688 | NUP93; nucleoporin 93 |
23165 | NUP205; nucleoporin 205 |
23511 | NUP188; nucleoporin 188 |
9631 | NUP155; nucleoporin 155 |
23225 | NUP210; nucleoporin 210 |
55706 | NDC1; NDC1 transmembrane nucleoporin |
9883 | POM121; POM121 transmembrane nucleoporin |
8021 | NUP214; nucleoporin 214 |
4927 | NUP88; nucleoporin 88 |
5903 | RANBP2; RAN binding protein 2 |
2733 | GLE1; GLE1 RNA export mediator |
11269 | DDX19B; DEAD-box helicase 19B |
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Variant |
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Metabolite |
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Reference |
|
Authors |
Kim HJ, Taylor JP |
Title |
Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases. |
Journal |
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Reference |
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Authors |
Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, Andre-Guimont C, Camu W, Bouchard JP, Dupre N, Rouleau GA, Wente SR, Dion PA |
Title |
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. |
Journal |
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Reference |
|
Authors |
Nguyen HP, Van Broeckhoven C, van der Zee J |
Title |
ALS Genes in the Genomic Era and their Implications for FTD. |
Journal |
|
Reference |
|
Authors |
White MA, Sreedharan J |
Title |
Amyotrophic lateral sclerosis: recent genetic highlights. |
Journal |
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LinkDB |
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