Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

TitleBiallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Publication TypeJournal Article
AuthorsLardelli, RM, Schaffer, AE, Eggens, VRC, Zaki, MS, Grainger, S, Sathe, S, Van Nostrand, EL, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, JL, Heckman, LDean, Rosti, ROzgur, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, TL, Markmiller, S, Marin-Valencia, I, Davies, JH, de Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, MLouise, Warwick, L, Chitayat, D, Blaser, S, Çağlayan, AOkay, Bilguvar, K, Per, H, Fagerberg, C, Christesen, HT, Kibaek, M, Aldinger, KA, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, WB, Chi, NC, Traver, D, Spaccini, L, Bova, SMaria, Gabriel, SB, Günel, M, Valente, EMaria, Nassogne, M-C, Bennett, EJ, Yeo, GW, Baas, F, Lykke-Andersen, J, Gleeson, JG
PubMed ID28092684
PubMed Central IDPMC5325768
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
R01 GM077243 / GM / NIGMS NIH HHS / United States
U54 HG003067 / HG / NHGRI NIH HHS / United States
R35 GM118069 / GM / NIGMS NIH HHS / United States
P30 NS047101 / NS / NINDS NIH HHS / United States
F32 GM106706 / GM / NIGMS NIH HHS / United States
R01 NS050375 / NS / NINDS NIH HHS / United States
R01 NS041537 / NS / NINDS NIH HHS / United States
R01 NS048453 / NS / NINDS NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
R01 HG004659 / HG / NHGRI NIH HHS / United States
K99 HD082337 / HD / NICHD NIH HHS / United States
R01 NS052455 / NS / NINDS NIH HHS / United States
P01 HD070494 / HD / NICHD NIH HHS / United States
R01 NS098004 / NS / NINDS NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States
R01 NS058721 / NS / NINDS NIH HHS / United States
R01 NS075449 / NS / NINDS NIH HHS / United States