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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.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
4.
Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma
Tatenda Mahlokozera, Bhuvic Patel, Hao Chen, Patrick Desouza, Xuan Qu, Diane D. Mao, Daniel Hafez, Wei Yang, Rukayat Taiwo, Mounica Paturu, Afshin Salehi, Amit D. Gujar, Gavin P. Dunn, Nima Mosammaparast, Allegra A. Petti, Hiroko Yano, Albert H. Kim
Nat Commun. 2021; 12: 6321. Published online 2021 Nov 3. doi: 10.1038/s41467-021-26653-6
PMCID:
PMC8566473
AbstractArticlePDF–2.7M
5.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
6.
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
7.
Genome‐wide association study of chemotherapeutic agent‐induced severe neutropenia/leucopenia for patients in Biobank Japan
Siew‐Kee Low, Suyoun Chung, Atsushi Takahashi, Hitoshi Zembutsu, Taisei Mushiroda, Michiaki Kubo, Yusuke Nakamura
Cancer Sci. 2013 Aug; 104(8): 1074–1082. Published online 2013 Jun 10. doi: 10.1111/cas.12186
PMCID:
PMC7657179
AbstractArticlePDF–225K
8.
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
9.
RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation
Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117
PMCID:
PMC7322067
AbstractArticlePDF–2.7M
10.
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
11.
PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling
Adnan Shami Shah, Alex G. Batrouni, Dongsung Kim, Amith Punyala, Wendy Cao, Chun Han, Michael L. Goldberg, Marcus B. Smolka, Jeremy M. Baskin
Cell Rep. Author manuscript; available in PMC 2019 Jun 26.
Published in final edited form as: Cell Rep. 2019 May 14; 27(7): 2157–2170.e8. doi: 10.1016/j.celrep.2019.04.060
PMCID:
PMC6594551
AbstractArticlePDF–1.4M
12.
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
13.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
14.
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
15.
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
16.
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
17.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
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.
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
20.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
AbstractArticlePDF–2.0M

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