| Potentially functional variants of INPP5D and EXOSC3 in immunity B cell-related genes are associated with non-small cell lung cancer survival. | Potentially functional variants of INPP5D and EXOSC3 in immunity B cell-related genes are associated with non-small cell lung cancer survival.
Lu G, Liu H, Wang H, Tang X, Luo S, Du M, Christiani DC, Wei Q., Free PMC Article | 10/3/2024 |
| Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation. | Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation.
Van Quekelberghe C, Latta K, Kunzmann S, Grohmann M, Hansen M., Free PMC Article | 10/1/2022 |
| Aberrant expression of MYD88 via RNA-controlling CNOT4 and EXOSC3 in colonic mucosa impacts generation of colonic cancer. | Aberrant expression of MYD88 via RNA-controlling CNOT4 and EXOSC3 in colonic mucosa impacts generation of colonic cancer.
Tsuda M, Noguchi M, Kurai T, Ichihashi Y, Ise K, Wang L, Ishida Y, Tanino M, Hirano S, Asaka M, Tanaka S., Free PMC Article | 12/11/2021 |
| Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form. | Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.
Mu W, Heller T, Barañano KW., Free PMC Article | 02/27/2021 |
| A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons. | A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.
Morton DJ, Jalloh B, Kim L, Kremsky I, Nair RJ, Nguyen KB, Rounds JC, Sterrett MC, Brown B, Le T, Karkare MC, McGaughey KD, Sheng S, Leung SW, Fasken MB, Moberg KH, Corbett AH., Free PMC Article | 09/12/2020 |
| This is the first case of mitochondrial dysfunction associated with an EXOSC3 mutation, which expands the phenotypic spectrum of pontocerebellar hypoplasia type 1b. | Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.
Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M. | 06/23/2018 |
| Mutations of EXOSC3/Rrp40p associated with pontocerebellar hypoplasia with progressive cerebral atrophy impact ribosomal RNA processing functions of the exosome in S. cerevisiae. | Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.
Gillespie A, Gabunilas J, Jen JC, Chanfreau GF., Free PMC Article | 09/9/2017 |
| Knock-down of rbm7, exosc8 and exosc3 in zebrafish showed a common pattern of defects in motor neurons and cerebellum. Our data indicate that impaired RNA metabolism may underlie the clinical phenotype by fine tuning gene expression which is essential for correct neuronal differentiation | Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R., Free PMC Article | 07/22/2017 |
| EXOSC3 mutations were linked to complicated hereditary spastic paraplegia. | Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
Halevy A, Lerer I, Cohen R, Kornreich L, Shuper A, Gamliel M, Zimerman BE, Korabi I, Meiner V, Straussberg R, Lossos A. | 07/25/2015 |
| study identified new nonsense and missense mutations in the EXOSC3 gene and showed mutations in this gene are exclusively found in pontocerebellar hypoplasia type 1 patients; there are evident genotype-phenotype correlations in EXOSC3-mediated PCH reflected in clinical outcome, age of death and pons hypoplasia | EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F., Free PMC Article | 11/8/2014 |
| The same mutation c.92G-->C, p.G31A in EXOSC3 was found in three unrelated Czech Roma patients with Pontocerebellar hypoplasia type 1 | Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.
Schwabova J, Brozkova DS, Petrak B, Mojzisova M, Pavlickova K, Haberlova J, Mrazkova L, Hedvicakova P, Hornofova L, Kaluzova M, Fencl F, Krutova M, Zamecnik J, Seeman P. | 08/9/2014 |
| The present study indicates that EXOSC3 mutations can underlie clinical phenotype not classifiable as pontocerebellar hypoplasia type 1. | Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.
Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B, Wu B, Gualandi F, Ferlini A, Bertini E, Wei W. | 06/28/2014 |
| We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental delay, spinal anterior horn involvement, and prolonged survival, consistent with the "mild PCH1 phenotype". | EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. | 02/22/2014 |
| Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring. | Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring.
Raijmakers R, Egberts WV, van Venrooij WJ, Pruijn GJ. | 03/20/2004 |