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Items: 1 to 20 of 41

1.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
2.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
3.
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
AbstractArticlePDF–1.7M
4.
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
5.
TGFβ attenuates cartilage extracellular matrix degradation via enhancing FBXO6-mediated MMP14 ubiquitination
Gangliang Wang, Shuai Chen, Ziang Xie, Shuying Shen, Wenbin Xu, Wenxiang Chen, Xiang Li, Yizheng Wu, Liangping Li, Bin Liu, Xianjun Ding, An Qin, Shunwu Fan
Ann Rheum Dis. 2020 Aug; 79(8): 1111–1120. Published online 2020 May 14. doi: 10.1136/annrheumdis-2019-216911
PMCID:
PMC7392491
AbstractArticlePDF–14M
6.
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
7.
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
AbstractArticlePDF–806K
8.
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
AbstractArticlePDF–1.3M
9.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M
10.
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development
Pu Wang, Feng Yan, Zhijun Li, Yanbao Yu, Scott E. Parnell, Yue Xiong
J Clin Invest. 2019 Oct 1; 129(10): 4393–4407. Published online 2019 Sep 9. doi: 10.1172/JCI129107
PMCID:
PMC6763242
AbstractArticlePDF–12M
11.
“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
AbstractArticlePDF–614K
12.
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
AbstractArticlePDF–682K
13.
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
14.
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
15.
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
AbstractArticlePDF–1.3M
16.
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
AbstractArticlePDF–416K
17.
Insights into Mucopolysaccharidosis I from the structure and action of a-L-Iduronidase
Haiying Bie, Jiang Yin, Xu He, Allison R. Kermode, Ethan D. Goddard-Borger, Stephen G. Withers, Michael N. G. James
Nat Chem Biol. Author manuscript; available in PMC 2016 Jul 20.
Published in final edited form as: Nat Chem Biol. 2013 Nov; 9(11): 739–745. Published online 2013 Sep 11. doi: 10.1038/nchembio.1357
PMCID:
PMC4954775
AbstractArticlePDF–1.9M
18.
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
AbstractArticlePDF–196K
19.
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
AbstractArticlePDF–1.8M
20.
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
AbstractArticlePDF–591K

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