Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Vivi Li + 410 word(s) 410 2020-12-15 07:52:14

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Li, V. EXOSC3 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5478 (accessed on 21 September 2026).
Li V. EXOSC3 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5478. Accessed September 21, 2026.
Li, Vivi. "EXOSC3 Gene" Encyclopedia, https://encyclopedia.pub/entry/5478 (accessed September 21, 2026).
Li, V. (2020, December 24). EXOSC3 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5478
Li, Vivi. "EXOSC3 Gene." Encyclopedia. Web. 24 December, 2020.
EXOSC3 Gene
Edit

Exosome component 3: The EXOSC3 gene provides instructions for making a protein known as exosome component 3. 

genes

References

  1. Baas F, van Dijk T. EXOSC3 Pontocerebellar Hypoplasia. 2014 Aug 21 [updated2020 Sep 24]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK236968/
  2. Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-BadenierM, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P,Minetti C, Santorelli FM. EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol. 2013 Jul;260(7):1866-70. doi:10.1007/s00415-013-6896-0.
  3. Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, FouldsN, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, NicollJA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-deWissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB,Marquering HA, Poll-Thé BT, Baas F. EXOSC3 mutations in pontocerebellarhypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23.
  4. Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A,Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM,Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van MaldergemL, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T,Zerres K. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance ofEXOSC3 mutations. Neurology. 2013 Jan 29;80(5):438-46. doi:10.1212/WNL.0b013e31827f0f66.
  5. Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, LeongDW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L,Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC. Mutations in the RNAexosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motorneuron degeneration. Nat Genet. 2012 Apr 29;44(6):704-8. doi: 10.1038/ng.2254.
  6. Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B,Gualandi F, Ferlini A, Bertini E, Wei W. Exome sequencing in a family withintellectual disability, early onset spasticity, and cerebellar atrophy detects anovel mutation in EXOSC3. Neurogenetics. 2013 Nov;14(3-4):247-50. doi:10.1007/s10048-013-0371-z.
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 763
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes No
Academic Video Service