PMC Links for GEO Profiles (Select 78952507) - PMC

Result Filters

Links from GEO Profiles

Items: 1 to 20 of 41

<< First< Prev

Page of 3

Select item 102374221.

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

Abstract Article PDF–23M

Select item 92626142.

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

Abstract Article PDF–3.6M

Select item 85256533.

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

Abstract Article PDF–1.7M

Select item 81650304.

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

Abstract Article PDF–2.2M

Select item 73924915.

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

Abstract Article PDF–14M

Select item 73220676.

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

Abstract Article PDF–2.7M

Select item 69782657.

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

Abstract Article PDF–806K

Select item 68053198.

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

Abstract Article PDF–1.3M

Select item 67781379.

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

Abstract Article PDF–7.8M

Select item 676324210.

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

Abstract Article PDF–12M

Select item 673231311.

“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

Abstract Article PDF–614K

Select item 658918812.

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

Abstract Article PDF–682K

Select item 553161113.

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

Abstract Article PDF–2.7M

Select item 531816314.

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

Abstract Article PDF–503K

Select item 524003715.

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

Abstract Article PDF–1.3M

Select item 498303216.

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

Abstract Article PDF–416K

Select item 495477517.

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

Abstract Article PDF–1.9M

Select item 488156518.

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