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Items: 1 to 20 of 41

1.
Mucopolysaccharidoses type I gene therapy
Sarah C. Hurt, Patricia I. Dickson, David T. Curiel
J Inherit Metab Dis. 2021 Sep; 44(5): 1088–1098. Published online 2021 Jul 9. doi: 10.1002/jimd.12414
PMCID:
PMC8525653
ArticlePDF–1.7M
2.
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
Yong‐An Zhou, Ping Li, Yanping Zhang, Qiuhong Xiong, Chao Li, Zhonghua Zhao, Yuxian Wang, Han Xiao
Mol Genet Genomic Med. 2020 Jan; 8(1): e1058. Published online 2019 Nov 23. doi: 10.1002/mgg3.1058
PMCID:
PMC6978265
ArticlePDF–806K
3.
Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I
Mohammad Taghikhani, Shohreh Khatami, Mohammad Abdi, Mohammad Said Hakhamaneshi, Mohammad Reza Alaei, Daniel Zamanfar, Rahim Vakili
J Clin Lab Anal. 2019 Oct; 33(8): e22963. Published online 2019 Aug 6. doi: 10.1002/jcla.22963
PMCID:
PMC6805319
ArticlePDF–1.3M
4.
“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz
Mol Genet Genomic Med. 2019 Sep; 7(9): e00615. Published online 2019 Jul 18. doi: 10.1002/mgg3.615
PMCID:
PMC6732313
ArticlePDF–614K
5.
Associations of IDUA and PTCH1 with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis
Qifei Wang, Chong Tang, Junxiu Jia, Guangwu Zhang, Zheng Liu
Dis Markers. 2019; 2019: 9503762. Published online 2019 Jun 2. doi: 10.1155/2019/9503762
PMCID:
PMC6589188
ArticlePDF–682K
6.
Neonatal tolerance induction enables accurate evaluation of gene therapy for MPS I in a canine model
Christian Hinderer, Peter Bell, Jean-Pierre Louboutin, Nathan Katz, Yanqing Zhu, Gloria Lin, Ruth Choa, Jessica Bagel, Patricia O'Donnell, Caitlin A. Fitzgerald, Therese Langan, Ping Wang, Margret L. Casal, Mark E. Haskins, James M. Wilson
Mol Genet Metab. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Mol Genet Metab. 2016 Sep; 119(1-2): 124–130. Published online 2016 Jun 8. doi: 10.1016/j.ymgme.2016.06.006
PMCID:
PMC5240037
ArticlePDF–1.3M
7.
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
Min Jung Kwak, Rimm Huh, Jinsup Kim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
BMC Med Genet. 2016; 17: 58. Published online 2016 Aug 12. doi: 10.1186/s12881-016-0319-x
PMCID:
PMC4983032
ArticlePDF–416K
8.
Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series
Abdellah Tebani, Lahouaria Zanoutene-Cheriet, Zoubir Adjtoutah, Lenaig Abily-Donval, Carole Brasse-Lagnel, Annie Laquerrière, Stephane Marret, Abla Chalabi Benabdellah, Soumeya Bekri
Int J Mol Sci. 2016 May; 17(5): 743. Published online 2016 May 17. doi: 10.3390/ijms17050743
PMCID:
PMC4881565
ArticlePDF–196K
9.
Direct Gene Transfer to the CNS Prevents Emergence of Neurologic Disease in a Murine Model of Mucopolysaccharidosis Type I
Daniel A. Wolf, Andrew W. Lenander, Zhenhong Nan, Lalitha R. Belur, Chester B. Whitley, Pankaj Gupta, Walter C. Low, R. Scott McIvor
Neurobiol Dis. Author manuscript; available in PMC 2015 May 1.
Published in final edited form as: Neurobiol Dis. 2011 Jul; 43(1): 123–133. Published online 2011 Mar 17. doi: 10.1016/j.nbd.2011.02.015
PMCID:
PMC4416491
ArticlePDF–1.8M
10.
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome
Alia Ahmed, Chester B. Whitley, Renee Cooksley, Kyle Rudser, Stephanie Cagle, Nadia Ali, Kathleen Delaney, Brianna Yund, Elsa Shapiro
Mol Genet Metab. Author manuscript; available in PMC 2015 Feb 1.
Published in final edited form as: Mol Genet Metab. 2014 Feb; 111(2): 123–127. Published online 2013 Dec 12. doi: 10.1016/j.ymgme.2013.11.014
PMCID:
PMC3939822
ArticlePDF–591K
11.
Human α-l-iduronidase uses its own N-glycan as a substrate-binding and catalytic module
Nobuo Maita, Takahiro Tsukimura, Takako Taniguchi, Seiji Saito, Kazuki Ohno, Hisaaki Taniguchi, Hitoshi Sakuraba
Proc Natl Acad Sci U S A. 2013 Sep 3; 110(36): 14628–14633. Published online 2013 Aug 19. doi: 10.1073/pnas.1306939110
PMCID:
PMC3767532
ArticlePDF–1.3M
12.
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein
Alzbeta Vazna, Clare Beesley, Linda Berna, Larisa Stolnaja, Helena Myskova, Michaela Bouckova, Hana Vlaskova, Helena Poupetova, Jiri Zeman, Martin Magner, Anna Hlavata, Bryan Winchester, Martin Hrebicek, Lenka Dvorakova
Am J Med Genet A. 2009 May; 149A(5): 965–974. Published online 2009 Apr 24. doi: 10.1002/ajmg.a.32812
PMCID:
PMC3526155
ArticlePDF–267K
13.
Crystallization, X-ray diffraction analysis and SIRAS phasing of human α-l-iduronidase
Nobuo Maita, Hisaaki Taniguchi, Hitoshi Sakuraba
Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012 Nov 1; 68(Pt 11): 1363–1366. Published online 2012 Oct 30. doi: 10.1107/S1744309112040432
PMCID:
PMC3515382
ArticlePDF–837K
14.
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
Latifa Chkioua, Souhir Khedhiri, Hadhami Ben Turkia, Rémy Tcheng, Roseline Froissart, Henda Chahed, Salima Ferchichi, Marie Françoise Ben Dridi, Christine Vianey-Saban, Sandrine Laradi, Abdelhedi Miled
Diagn Pathol. 2011; 6: 47. Published online 2011 Jun 3. doi: 10.1186/1746-1596-6-47
PMCID:
PMC3135498
ArticlePDF–358K
15.
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms
Latifa Chkioua, Souhir Khedhiri, Asma Kassab, Amina Bibi, Salima Ferchichi, Roseline Froissart, Christine Vianey-Saban, Sandrine Laradi, Abdelhedi Miled
Diagn Pathol. 2011; 6: 39. Published online 2011 Apr 26. doi: 10.1186/1746-1596-6-39
PMCID:
PMC3110106
ArticlePDF–289K
16.
A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I
Korrakot Prommajan, Surasawadee Ausavarat, Chalurmpon Srichomthong, Vilavun Puangsricharern, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Mol Vis. 2011; 17: 456–460. Published online 2011 Feb 11.
PMCID:
PMC3042362
ArticlePDF–2.5M
17.
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.
E. L. Aronovich, D. Pan, C. B. Whitley
Am J Hum Genet. 1996 Jan; 58(1): 75–85.
PMCID:
PMC1914939
SummaryPage BrowsePDF–1.9M
18.
Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.
L J Ashton, D A Brooks, P A McCourt, V J Muller, P R Clements, J J Hopwood
Am J Hum Genet. 1992 Apr; 50(4): 787–794.
PMCID:
PMC1682646
SummaryPage BrowsePDF–1.1M
19.
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
G Bach, S M Moskowitz, P T Tieu, A Matynia, E F Neufeld
Am J Hum Genet. 1993 Aug; 53(2): 330–338.
PMCID:
PMC1682364
SummaryPage BrowsePDF–1.7M
20.
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
H S Scott, T Litjens, P V Nelson, P R Thompson, D A Brooks, J J Hopwood, C P Morris
Am J Hum Genet. 1993 Nov; 53(5): 973–986.
PMCID:
PMC1682315
SummaryPage BrowsePDF–2.8M

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