Besley GT - Search Results

1

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.

Zhang Z, Suzuki Y, Shimozawa N, Fukuda S, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Wanders RJ, Barth PG, Moser HW, Paton BC, Besley GT, Kondo N. Zhang Z, et al. Among authors: besley gt. Hum Mutat. 1999;13(6):487-96. doi: 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T. Hum Mutat. 1999. PMID: 10408779

2

Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.

Shimozawa N, Imamura A, Zhang Z, Suzuki Y, Orii T, Tsukamoto T, Osumi T, Fujiki Y, Wanders RJ, Besley G, Kondo N. Shimozawa N, et al. J Med Genet. 1999 Oct;36(10):779-81. doi: 10.1136/jmg.36.10.779. J Med Genet. 1999. PMID: 10528859 Free PMC article.

3

Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.

Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N. Fukao T, et al. Among authors: besley g. Genomics. 2000 Sep 1;68(2):144-51. doi: 10.1006/geno.2000.6282. Genomics. 2000. PMID: 10964512

4

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ. Jansen GA, et al. Among authors: besley gt. Nat Genet. 1997 Oct;17(2):190-3. doi: 10.1038/ng1097-190. Nat Genet. 1997. PMID: 9326940

5

Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ. Hermans MM, et al. Hum Mutat. 2004 Jan;23(1):47-56. doi: 10.1002/humu.10286. Hum Mutat. 2004. PMID: 14695532

6

Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy.

Kurian MA, Ryan S, Besley GT, Wanders RJ, King MD. Kurian MA, et al. Among authors: besley gt. J Inherit Metab Dis. 2004;27(1):105-8. doi: 10.1023/b:boli.0000016687.88818.6d. J Inherit Metab Dis. 2004. PMID: 15065573

7

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM. Tessa A, et al. Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930. Hum Mutat. 2009. PMID: 19242930

8

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

Olpin SE, Pollitt RJ, McMenamin J, Manning NJ, Besley G, Ruiter JP, Wanders RJ. Olpin SE, et al. J Inherit Metab Dis. 2002 Oct;25(6):477-82. doi: 10.1023/a:1021251202287. J Inherit Metab Dis. 2002. PMID: 12555940

9

Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation.

Clayton PT, Lake BD, Hjelm M, Stephenson JB, Besley GT, Wanders RJ, Schram AW, Tager JM, Schutgens RB, Lawson AM. Clayton PT, et al. Among authors: besley gt. J Inherit Metab Dis. 1988;11 Suppl 2:165-8. doi: 10.1007/BF01804226. J Inherit Metab Dis. 1988. PMID: 3141700 No abstract available.

10

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: besley gt. Mol Genet Metab. 2014 Feb;111(2):133-8. doi: 10.1016/j.ymgme.2013.08.011. Epub 2013 Sep 1. Mol Genet Metab. 2014. PMID: 24125893

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