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6. Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ. Neupane S; Goto J; Berardinelli SJ; Ito A; Haltiwanger RS; Holdener BC Glycobiology; 2021 Sep; 31(8):988-1004. PubMed ID: 33909046 [TBL] [Abstract][Full Text] [Related]
7. Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. Weh E; Takeuchi H; Muheisen S; Haltiwanger RS; Semina EV PLoS One; 2017; 12(9):e0184903. PubMed ID: 28926587 [TBL] [Abstract][Full Text] [Related]
8. 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 J Biol Chem; 2021 Jul; 297(1):100843. PubMed ID: 34058199 [TBL] [Abstract][Full Text] [Related]
9. O-fucosylation of thrombospondin type I repeats is dispensable for trafficking thrombospondin 1 to platelet secretory granules. Berardinelli SJ; Sillato AR; Grady RC; Neupane S; Ito A; Haltiwanger RS; Holdener BC Glycobiology; 2023 May; 33(4):301-310. PubMed ID: 36721988 [TBL] [Abstract][Full Text] [Related]
10. Genetic and biochemical evidence that gastrulation defects in Pofut2 mutants result from defects in ADAMTS9 secretion. Benz BA; Nandadasa S; Takeuchi M; Grady RC; Takeuchi H; LoPilato RK; Kakuda S; Somerville RPT; Apte SS; Haltiwanger RS; Holdener BC Dev Biol; 2016 Aug; 416(1):111-122. PubMed ID: 27297885 [TBL] [Abstract][Full Text] [Related]
11. Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. Heinonen TY; Maki M Ann Med; 2009; 41(1):2-10. PubMed ID: 18720094 [TBL] [Abstract][Full Text] [Related]
12. O-fucosylation stabilizes the TSR3 motif in thrombospondin-1 by interacting with nearby amino acids and protecting a disulfide bond. Berardinelli SJ; Eletsky A; Valero-González J; Ito A; Manjunath R; Hurtado-Guerrero R; Prestegard JH; Woods RJ; Haltiwanger RS J Biol Chem; 2022 Jun; 298(6):102047. PubMed ID: 35597280 [TBL] [Abstract][Full Text] [Related]
13. Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report. Wang YE; Ramirez DA; Chang TC; Berrocal A BMC Ophthalmol; 2020 Mar; 20(1):118. PubMed ID: 32204707 [TBL] [Abstract][Full Text] [Related]
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15. Ocular Phenotype of Peters-Plus Syndrome. Shah PR; Chauhan B; Chu CT; Kofler J; Nischal KK Cornea; 2022 Feb; 41(2):219-223. PubMed ID: 34629439 [TBL] [Abstract][Full Text] [Related]
16. 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 J Biol Chem; 2008 Mar; 283(12):7354-60. PubMed ID: 18199743 [TBL] [Abstract][Full Text] [Related]
17. Peters Plus syndrome: a recognizable clinical entity. Demir GÜ; Lafcı NG; Doğan ÖA; Şimşek-Kiper PÖ; Utine GE Turk J Pediatr; 2020; 62(1):136-140. PubMed ID: 32253880 [TBL] [Abstract][Full Text] [Related]
18. 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 Clin Genet; 2014 Aug; 86(2):142-8. PubMed ID: 23889335 [TBL] [Abstract][Full Text] [Related]
19. Prenatal sonographic findings in Peters-plus syndrome. Boog G; Le Vaillant C; Joubert M Ultrasound Obstet Gynecol; 2005 Jun; 25(6):602-6. PubMed ID: 15912477 [TBL] [Abstract][Full Text] [Related]