| Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells. | Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells.
Lauwen S, Baerenfaenger M, Ruigrok S, de Jong EK, Wessels HJCT, den Hollander AI, Lefeber DJ. | 01/1/2022 |
| Peters plus syndrome mutations affect the function and stability of human beta1,3-glucosyltransferase. | Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.
Zhang A, Venkat A, Taujale R, Mull JL, Ito A, Kannan N, Haltiwanger RS., Free PMC Article | 08/28/2021 |
| Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report. | Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.
Wang YE, Ramirez DA, Chang TC, Berrocal A., Free PMC Article | 02/6/2021 |
| Studies indicate that Peters Plus syndrome is caused by mutations in beta 3-glucosyltransferase (B3GALTL). | Clinical utility gene card for: Peters plus syndrome.
Jaeken J, Lefeber DJ, Matthijs G., Free PMC Article | 02/3/2018 |
| POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation. | Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.
Vasudevan D, Takeuchi H, Johar SS, Majerus E, Haltiwanger RS., Free PMC Article | 09/26/2015 |
| Mutations in the coding region of B3GALTL were identified in nine patients; six had a documented phenotype of classic Peters plus syndrome (PPS) and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation. | Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV., Free PMC Article | 03/21/2015 |
| a novel c.597-2 A>G splicing mutation within the B3GALTL gene in typical Peters-plus syndrome | First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.
Ben Mahmoud A, Siala O, Mansour RB, Driss F, Baklouti-Gargouri S, Mkaouar-Rebai E, Belguith N, Fakhfakh F. | 12/28/2013 |
| A novel homozygous c.597-2A>G mutation was identified in both patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene | Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.
Siala O, Belguith N, Kammoun H, Kammoun B, Hmida N, Chabchoub I, Hchicha M, Fakhfakh F. | 11/17/2012 |
| Vertebral defects in a patient with Peters plus syndrome and mutations in B3GALTL. | Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.
Faletra F, Athanasakis E, Minen F, Fornasier F, Marchetti F, Gasparini P. | 01/14/2012 |
| The present report confirms the wide clinical spectrum of Peters plus syndrome, underlines the major clinical criteria of the syndrome and the major implication of B3GALTL gene in this condition. | A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.
Aliferis K, Marsal C, Pelletier V, Doray B, Weiss MM, Tops CM, Speeg-Schatz C, Lesnik SA, Dollfus H. | 01/22/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Novel B3GALTL mutation in Peters-plus Syndrome | Novel B3GALTL mutation in Peters-plus Syndrome.
Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N. | 03/1/2010 |
| two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products; data confirm an important role for B3GALTL in causing typical Peters Plus syndrome | Mutation analysis of B3GALTL in Peters Plus syndrome.
Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV., Free PMC Article | 01/21/2010 |
| Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.( | Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.
Hess D, Keusch JJ, Oberstein SA, Hennekam RC, Hofsteenge J. | 01/21/2010 |
| Biallelic truncating mutations in the beta 1,3-galactosyltransferase-like gene (B3GALTL) in all 20 tested patients, showed that Peters Plus is a monogenic, primarily single-mutation syndrome. | Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.
Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC., Free PMC Article | 01/21/2010 |
| B3GTL is transcribed in a wide range of tissues and has conserved domains and motifs | A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts.
Heinonen TY, Pasternack L, Lindfors K, Breton C, Gastinel LN, Mäki M, Kainulainen H. | 01/21/2010 |
| We report here the molecular cloning and characterization of a novel beta1,3-glucosyltransferase (beta3Glc-T) that synthesizes a Glcbeta1,3Fucalpha- structure on the TSR domain. | Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain.
Sato T, Sato M, Kiyohara K, Sogabe M, Shikanai T, Kikuchi N, Togayachi A, Ishida H, Ito H, Kameyama A, Gotoh M, Narimatsu H. | 01/21/2010 |