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