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Items: 1 to 20 of 38

1.
Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease
Diego Iacono, Shunsuke Koga, Hui Peng, Arulmani Manavalan, Jessica Daiker, Monica Castanedes-Casey, Nicholas B. Martin, Aimee R. Herdt, Michael H. Gelb, Dennis W. Dickson, Chris W. Lee
Neurobiol Dis. Author manuscript; available in PMC 2023 Sep 2.
Published in final edited form as: Neurobiol Dis. 2022 Nov; 174: 105862. Published online 2022 Sep 14. doi: 10.1016/j.nbd.2022.105862
PMCID:
PMC10474820
AbstractArticlePDF–2.2M
2.
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease
Konstantin Senkevich, Cornelia E Zorca, Aliza Dworkind, Uladzislau Rudakou, Emma Somerville, Eric Yu, Alexey Ermolaev, Daria Nikanorova, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin-Baer, Francis P Grenn, Ming Sum Ruby Chiang, S Pablo Sardi, Benoît Vanderperre, Cornelis Blauwendraat, Jean-François Trempe, Edward A Fon, Thomas M Durcan, Roy N Alcalay, Ziv Gan-Or
Brain. 2023 May; 146(5): 1859–1872. Published online 2022 Nov 11. doi: 10.1093/brain/awac413
PMCID:
PMC10151180
AbstractArticlePDF–770K
3.
β-Galactosidase is a target enzyme for detecting peritoneal metastasis of gastric cancer
Hidemasa Kubo, Yasutoshi Murayama, Soichiro Ogawa, Tatsuya Matsumoto, Masayuki Yubakami, Takuma Ohashi, Takeshi Kubota, Kazuma Okamoto, Mako Kamiya, Yasuteru Urano, Eigo Otsuji
Sci Rep. 2021; 11: 10664. Published online 2021 May 21. doi: 10.1038/s41598-021-88982-2
PMCID:
PMC8139979
AbstractArticlePDF–5.8M
4.
Self-association of human beta-galactocerebrosidase: Dependence on pH, salt, and surfactant
Eunhee Lee, Nazila Salamat-Miller, Walter F. Stafford, Katherine Taylor
PLoS One. 2019; 14(12): e0226618. Published online 2019 Dec 23. doi: 10.1371/journal.pone.0226618
PMCID:
PMC6927645
AbstractArticlePDF–1.7M
5.
GALC mutations in Chinese patients with late-onset Krabbe disease: a case report
Shunzhi Zhuang, Lingen Kong, Caiming Li, Likun Chen, Tingting Zhang
BMC Neurol. 2019; 19: 122. Published online 2019 Jun 11. doi: 10.1186/s12883-019-1345-z
PMCID:
PMC6560759
AbstractArticlePDF–2.8M
6.
Analysis of age-related changes in psychosine metabolism in the human brain
Michael S. Marshall, Benas Jakubauskas, Wil Bogue, Monika Stoskute, Zane Hauck, Emily Rue, Matthew Nichols, Lisa L. DiAntonio, Richard B. van Breemen, Jeffrey H. Kordower, Carlos A. Saavedra-Matiz, Ernesto R. Bongarzone
PLoS One. 2018; 13(2): e0193438. Published online 2018 Feb 26. doi: 10.1371/journal.pone.0193438
PMCID:
PMC5826537
AbstractArticlePDF–11M
7.
The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure
Chris H. Hill, Georgia M. Cook, Samantha J. Spratley, Stuart Fawke, Stephen C. Graham, Janet E. Deane
Nat Commun. 2018; 9: 151. Published online 2018 Jan 11. doi: 10.1038/s41467-017-02361-y
PMCID:
PMC5764952
AbstractArticlePDF–2.3M
8.
Lysosphingolipids and sphingolipidoses: psychosine in Krabbe disease
Stefka Spassieva, Erhard Bieberich
J Neurosci Res. Author manuscript; available in PMC 2017 May 1.
Published in final edited form as: J Neurosci Res. 2016 Nov; 94(11): 974–981. doi: 10.1002/jnr.23888
PMCID:
PMC5027979
AbstractArticlePDF–425K
9.
DNA promoter hypermethylation contributes to down-regulation of galactocerebrosidase gene in lung and head and neck cancers
Jiangzhou Peng, Baishen Chen, Zhuojian Shen, Heran Deng, Degang Liu, Xuan Xie, Xiangfeng Gan, Xia Xu, Zhiquan Huang, Ju Chen
Int J Clin Exp Pathol. 2015; 8(9): 11042–11050. Published online 2015 Sep 1.
PMCID:
PMC4637637
AbstractArticlePDF–686K
10.
Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease
Chris H. Hill, Stephen C. Graham, Randy J. Read, Janet E. Deane
Proc Natl Acad Sci U S A. 2013 Dec 17; 110(51): 20479–20484. Published online 2013 Dec 2. doi: 10.1073/pnas.1311990110
PMCID:
PMC3870757
AbstractArticlePDF–980K
11.
A genome-wide association study of breast cancer in women of African ancestry
Fang Chen, Gary K. Chen, Daniel O. Stram, Robert C. Millikan, Christine B. Ambrosone, Esther M. John, Leslie Bernstein, Wei Zheng, Julie R. Palmer, Jennifer J. Hu, Tim R. Rebbeck, Regina G. Ziegler, Sarah Nyante, Elisa V. Bandera, Sue A. Ingles, Michael F. Press, Edward A. Ruiz-Narvaez, Sandra L. Deming, Jorge L. Rodriguez-Gil, Angela DeMichele, Stephen J. Chanock, William Blot, Lisa Signorello, Qiuyin Cai, Guoliang Li, Jirong Long, Dezheng Huo, Yonglan Zheng, Nancy J. Cox, Olufunmilayo I. Olopade, Temidayo O. Ogundiran, Clement Adebamowo, Katherine L. Nathanson, Susan M. Domchek, Michael S. Simon, Anselm Hennis, Barbara Nemesure, Suh-Yuh Wu, M. Cristina Leske, Stefan Ambs, Carolyn M. Hutter, Alicia Young, Charles Kooperberg, Ulrike Peters, Suhn K. Rhie, Peggy Wan, Xin Sheng, Loreall C. Pooler, David J. Van Den Berg, Loic Le Marchand, Laurence N. Kolonel, Brian E. Henderson, Christopher A. Haiman
Hum Genet. Author manuscript; available in PMC 2014 Jan 1.
Published in final edited form as: Hum Genet. 2013 Jan; 132(1): 39–48. Published online 2012 Aug 25. doi: 10.1007/s00439-012-1214-y
PMCID:
PMC3749077
AbstractArticlePDF–619K
12.
Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones
Wing C. Lee, Dongcheul Kang, Ena Causevic, Aimee R. Herdt, Elizabeth A. Eckman, Christopher B. Eckman
J Neurosci. 2010 Apr 21; 30(16): 5489–5497. doi: 10.1523/JNEUROSCI.6383-09.2010
PMCID:
PMC3278277
AbstractArticlePDF–1.5M
13.
GALC Deletions Increase the Risk of Primary Open-Angle Glaucoma: The Role of Mendelian Variants in Complex Disease
Yutao Liu, Jason Gibson, Joshua Wheeler, Lydia Coulter Kwee, Cecile M. Santiago-Turla, Stephen K. Akafo, Paul R. Lichter, Douglas E. Gaasterland, Sayoko E. Moroi, Pratap Challa, Leon W. Herndon, Christopher A. Girkin, Donald L. Budenz, Julia E. Richards, R. Rand Allingham, Michael A. Hauser
PLoS One. 2011; 6(11): e27134. Published online 2011 Nov 4. doi: 10.1371/journal.pone.0027134
Correction in:
PLoS One. 2014; 9(7): e103197.
PMCID:
PMC3208571
AbstractArticlePDF–286K
14.
Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease
Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, David N Cooper, Mirella Filocamo
Hum Mutat. 2010 Dec; 31(12): E1894–E1915. doi: 10.1002/humu.21367
PMCID:
PMC3052420
AbstractArticlePDF–797K
15.
Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.
R. De Gasperi, M. A. Gama Sosa, E. L. Sartorato, S. Battistini, H. MacFarlane, J. F. Gusella, W. Krivit, E. H. Kolodny
Am J Hum Genet. 1996 Dec; 59(6): 1233–1242.
Correction in:
Am J Hum Genet. 1997 May; 60(5): 1264.
PMCID:
PMC1914878
SummaryPage BrowsePDF–1.9M
16.
Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease
Nadav I. Weinstock, Conlan Kreher, Jacob Favret, Duc Nguyen, Ernesto R. Bongarzone, Lawrence Wrabetz, M. Laura Feltri, Daesung Shin
Nat Commun. 2020; 11: 5356. Published online 2020 Oct 23. doi: 10.1038/s41467-020-19179-w
PMCID:
PMC7584660
AbstractArticlePDF–8.9M
17.
A Comparison of Lysosomal Enzymes Expression Levels in Peripheral Blood of Mild- and Severe-Alzheimer’s Disease and MCI Patients: Implications for Regenerative Medicine Approaches
Francesco Morena, Chiara Argentati, Rosa Trotta, Lucia Crispoltoni, Anna Stabile, Alessandra Pistilli, Angela di Baldassarre, Riccardo Calafiore, Pia Montanucci, Giuseppe Basta, Anna Pedrinolla, Nicola Smania, Massimo Venturelli, Federico Schena, Fabio Naro, Carla Emiliani, Mario Rende, Sabata Martino
Int J Mol Sci. 2017 Aug; 18(8): 1806. Published online 2017 Aug 19. doi: 10.3390/ijms18081806
PMCID:
PMC5578193
AbstractArticlePDF–1.9M
18.
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
Susan Elliott, Norman Buroker, Jason J. Cournoyer, Anna M. Potier, Joseph D. Trometer, Carole Elbin, Mack J. Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H. Gelb, C. Ronald Scott
Mol Genet Metab. Author manuscript; available in PMC 2017 Feb 20.
Published in final edited form as: Mol Genet Metab. 2016 Aug; 118(4): 304–309. Published online 2016 May 20. doi: 10.1016/j.ymgme.2016.05.015
PMCID:
PMC5318163
AbstractArticlePDF–503K
19.
IREB2 and GALC Are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease
Jin Hwa Lee, Michael H. Cho, Craig P. Hersh, Merry-Lynn N. McDonald, J. Michael Wells, Mark T. Dransfield, Russell P. Bowler, David A. Lynch, David A. Lomas, James D. Crapo, Edwin K. Silverman
Am J Respir Cell Mol Biol. 2015 Mar; 52(3): 365–376. doi: 10.1165/rcmb.2014-0210OC
PMCID:
PMC4370263
AbstractArticlePDF–1.2M
20.
Proteomic Profiling of the TRAF3 Interactome Network Reveals a New Role for the ER-to-Golgi Transport Compartments in Innate Immunity
Wendy J. van Zuylen, Priscilla Doyon, Jean-François Clément, Kashif Aziz Khan, Lisa M. D'Ambrosio, Florence Dô, Myriam St-Amant-Verret, Tasheen Wissanji, Gregory Emery, Anne-Claude Gingras, Sylvain Meloche, Marc J. Servant
PLoS Pathog. 2012 Jul; 8(7): e1002747. Published online 2012 Jul 5. doi: 10.1371/journal.ppat.1002747
PMCID:
PMC3390413
AbstractArticlePDF–1.8M

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