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Items: 10

1.
Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe
Aleksandra Jezela-Stanek, Agnieszka Różdżyńska-Świątkowska, Anna Kulpanovich, Elżbieta Ciara, Jolanta Marucha, Anna Tylki-Szymańska
J Appl Genet. 2019; 60(2): 163–174. Published online 2019 Mar 30. doi: 10.1007/s13353-019-00491-1
PMCID:
PMC6483970
AbstractArticlePDF–1.7M
2.
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini, Amelia Morrone
BMC Med Genet. 2018; 19: 183. Published online 2018 Oct 11. doi: 10.1186/s12881-018-0694-6
PMCID:
PMC6180571
AbstractArticlePDF–1.2M
3.
Molecular Genetics and Metabolism Special Edition: Diagnosis Diagnosis and Prognosis of Mucopolysaccharidosis IVA
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Mol Genet Metab. Author manuscript; available in PMC 2019 Sep 1.
Published in final edited form as: Mol Genet Metab. 2018 Sep; 125(1-2): 18–37. Published online 2018 May 15. doi: 10.1016/j.ymgme.2018.05.004
PMCID:
PMC6175643
AbstractArticlePDF–1.1M
4.
Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization.
J Bielicki, J J Hopwood
Biochem J. 1991 Oct 15; 279(Pt 2): 515–520. doi: 10.1042/bj2790515
PMCID:
PMC1151634
SummaryPage BrowsePDF–1.2M
5.
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
S Fukuda, S Tomatsu, M Masue, K Sukegawa, H Iwata, T Ogawa, Y Nakashima, T Hori, A Yamagishi, Y Hanyu, et al.
J Clin Invest. 1992 Sep; 90(3): 1049–1053. doi: 10.1172/JCI115919
PMCID:
PMC329963
SummaryPage BrowsePDF–1.3M
6.
Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, and Dickkopf Wnt signaling pathway inhibitor (DKK3)
Sumit Bhattacharyya, Leo Feferman, Joanne K. Tobacman
Oncotarget. 2017 Nov 21; 8(59): 100242–100260. Published online 2017 Oct 27. doi: 10.18632/oncotarget.22152
PMCID:
PMC5725016
AbstractArticlePDF–5.8M
7.
Inhibition of Phosphatase Activity Follows Decline in Sulfatase Activity and Leads to Transcriptional Effects through Sustained Phosphorylation of Transcription Factor MITF
Sumit Bhattacharyya, Leo Feferman, Joanne K. Tobacman
PLoS One. 2016; 11(4): e0153463. Published online 2016 Apr 14. doi: 10.1371/journal.pone.0153463
PMCID:
PMC4831796
AbstractArticlePDF–1.3M
8.
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Ana Fernández-Marmiesse, Marcos Morey, Merce Pineda, Jesús Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, Jose A Cocho
Orphanet J Rare Dis. 2014; 9: 59. Published online 2014 Apr 25. doi: 10.1186/1750-1172-9-59
PMCID:
PMC4024120
AbstractArticlePDF–447K
9.
Molecular mechanisms underlying the cholesterol-lowering effect of Ginkgo biloba extract in hepatocytes: a comparative study with lovastatin
Zuo-quan Xie, Gai Liang, Lu Zhang, Qi Wang, Yi Qu, Yang Gao, Li-bo Lin, Sai Ye, Ji Zhang, Hui Wang, Guo-ping Zhao, Qing-hua Zhang
Acta Pharmacol Sin. 2009 Sep; 30(9): 1262–1275. Published online 2009 Aug 24. doi: 10.1038/aps.2009.126
PMCID:
PMC4007179
AbstractArticlePDF–2.0M
10.
Flexible heteroarotinoid (Flex-Het) SHetA2 inhibits angiogenesis in vitro and in vivo
Tashanna Myers, Shylet Chengedza, Stan Lightfoot, Yanfang Pan, Daynelle Dedmond, Lauren Cole, Yuhong Tang, Doris M. Benbrook
Invest New Drugs. 2009 Aug; 27(4): 304–318. Published online 2008 Sep 18. doi: 10.1007/s10637-008-9175-7
PMCID:
PMC2701494
AbstractArticlePDF–607K

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