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Items: 17

1.
Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series
Karolina M. Stepien, Elżbieta Ciara, Aleksandra Jezela-Stanek
Genes (Basel) 2020 Nov; 11(11): 1383. Published online 2020 Nov 22. doi: 10.3390/genes11111383
PMCID:
PMC7700486
AbstractArticlePDF–360K
2.
Molecular cloning of a cDNA for human alpha-L-fucosidase.
H Fukushima, J R de Wet, J S O'Brien
Proc Natl Acad Sci U S A. 1985 Feb; 82(4): 1262–1265. doi: 10.1073/pnas.82.4.1262
PMCID:
PMC397235
SummaryPage BrowsePDF–915K
3.
A 5' splice site mutation in fucosidosis.
M Williamson, H Cragg, J Grant, K Kretz, J O'Brien, P J Willems, E Young, B Winchester
J Med Genet. 1993 Mar; 30(3): 218–223. doi: 10.1136/jmg.30.3.218
PMCID:
PMC1016303
SummaryPage BrowsePDF–1.4M
4.
The molecular defect underlying canine fucosidosis.
B J Skelly, D R Sargan, M E Herrtage, B G Winchester
J Med Genet. 1996 Apr; 33(4): 284–288. doi: 10.1136/jmg.33.4.284
PMCID:
PMC1050576
SummaryPage BrowsePDF–1.1M
5.
Fucosidosis: genetic and biochemical analysis of eight cases.
H Cragg, M Williamson, E Young, J O'Brien, J Alhadeff, S Fang-Kircher, E Paschke, B Winchester
J Med Genet. 1997 Feb; 34(2): 105–110. doi: 10.1136/jmg.34.2.105
PMCID:
PMC1050861
SummaryPage BrowsePDF–1.0M
6.
Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.
P J Willems, J K Darby, R A DiCioccio, P Nakashima, C Eng, K A Kretz, L L Cavalli-Sforza, E M Shooter, J S O'Brien
Am J Hum Genet. 1988 Nov; 43(5): 756–763.
PMCID:
PMC1715535
SummaryPage BrowsePDF–1.3M
7.
Restriction analysis of the structural α-L-fucosidase gene and its linkage to fucosidosis
John K. Darby, Patrick J. Willems, Phil Nakashima, Jeff Johnsen, Robert E. Ferrell, Ellen M. Wijsman, Daniella S. Gerhard, Nicholas C. Dracopoli, David Housman, Jurgen Henke, Michael L. Fowler, Thomas B. Shows, John S. O'Brien, Luca L. Cavalli-Sforza
Am J Hum Genet. 1988 Nov; 43(5): 749–755.
PMCID:
PMC1715555
SummaryPage BrowsePDF–1.0M
8.
Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases
Chenxi Yang, Jianyan Pan, Siyuan Linpeng, Zhuo Li, Hu Tan, Lingqian Wu
Med Sci Monit. 2019; 25: 7634–7644. Published online 2019 Oct 11. doi: 10.12659/MSM.915876
PMCID:
PMC6800466
AbstractArticlePDF–3.0M
9.
Cryo-EM structures of human fucosidase FucA1 reveal insight into substrate recognition and catalysis
Zachary Armstrong, Richard W. Meek, Liang Wu, James N. Blaza, Gideon J. Davies
Structure. 2022 Oct 6; 30(10): 1443–1451.e5. doi: 10.1016/j.str.2022.07.001
PMCID:
PMC9548408
AbstractArticle
10.
The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns
Agnieszka Domin, Tomasz Zabek, Aleksandra Kwiatkowska, Tomasz Szmatola, Anna Deregowska, Anna Lewinska, Artur Mazur, Maciej Wnuk
Genes (Basel) 2021 Jan; 12(1): 74. Published online 2021 Jan 8. doi: 10.3390/genes12010074
PMCID:
PMC7827884
AbstractArticlePDF–3.6M
11.
MR Brain Imaging of Fucosidosis Type I
Paolo Galluzzi, Alessandra Rufa, Paolo Balestri, Alfonso Cerase, Antonio Federico
AJNR Am J Neuroradiol. 2001 Apr; 22(4): 777–780.
PMCID:
PMC7976004
AbstractArticlePDF–193K
12.
Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report
Xinwen Zhang, Shaozhi Zhao, Hongwei Liu, Xiaoyan Wang, Xiaolei Wang, Nan Du, Hui Liu, Hongfang Duan
J Int Med Res. 2021 Apr; 49(4): 03000605211005975. Published online 2021 Apr 27. doi: 10.1177/03000605211005975
PMCID:
PMC8111281
AbstractArticlePDF–441K
13.
Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.
J M Provenzale, D P Barboriak, K Sims
AJNR Am J Neuroradiol. 1995 Apr; 16(4): 809-13.
PMCID:
PMC8332243
SummaryPDF–337K
14.
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
Latifa Chkioua, Yessine Amri, Chayma Saheli, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib, Sandrine Laradi
BMC Med Genomics. 2021; 14: 208. Published online 2021 Aug 23. doi: 10.1186/s12920-021-01061-3
Correction in:
BMC Med Genomics. 2021; 14: 293.
PMCID:
PMC8383439
AbstractArticlePDF–1.4M
15.
Glycan degradation promotes macroautophagy
Alice D. Baudot, Victoria M.-Y. Wang, Josh D. Leach, Jim O’Prey, Jaclyn S. Long, Viola Paulus-Hock, Sergio Lilla, David M. Thomson, John Greenhorn, Farah Ghaffar, Colin Nixon, Miep H. Helfrich, Douglas Strathdee, Judith Pratt, Francesco Marchesi, Sara Zanivan, Kevin M. Ryan
Proc Natl Acad Sci U S A. 2022 Jun 28; 119(26): e2111506119. Published online 2022 Jun 22. doi: 10.1073/pnas.2111506119
PMCID:
PMC9245654
AbstractArticlePDF–2.6M
16.
An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis)
Shao-Jia Mao, Jia Zhao, Zheng Shen, Chao-Chun Zou
BMC Pediatr. 2022; 22: 403. Published online 2022 Jul 11. doi: 10.1186/s12887-022-03414-y
PMCID:
PMC9277805
AbstractArticlePDF–1.5M
17.
Oligodendrocyte Loss Over the Disease Course in the Canine Model of the Lysosomal Storage Disease Fucosidosis
Jessica L. Fletcher, Gauthami S. Kondagari, Charles H. Vite, Peter Williamson, Rosanne M. Taylor
J Neuropathol Exp Neurol. Author manuscript; available in PMC 2015 Jun 1.
Published in final edited form as: J Neuropathol Exp Neurol. 2014 Jun; 73(6): 536–547. doi: 10.1097/NEN.0000000000000075
PMCID:
PMC4117195
AbstractArticlePDF–3.1M

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