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Items: 1 to 20 of 33

1.
Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations
Yujun Yuan, Ying Ma, Qiong Wu, Liang Huo, Chun-Feng Liu, Xueyan Liu
BMC Pediatr. 2024; 24: 119. Published online 2024 Feb 14. doi: 10.1186/s12887-024-04559-8
PMCID:
PMC10865547
AbstractArticlePDF–3.9M
2.
SARS-CoV-2 hijacks cellular kinase CDK2 to promote viral RNA synthesis
Saisai Guo, Xiaobo Lei, Yan Chang, Jianyuan Zhao, Jing Wang, Xiaojing Dong, Qian Liu, Zixiong Zhang, Lidan Wang, Dongrong Yi, Ling Ma, Quanjie Li, Yongxin Zhang, Jiwei Ding, Chen Liang, Xiaoyu Li, Fei Guo, Jianwei Wang, Shan Cen
Signal Transduct Target Ther. 2022; 7: 400. Published online 2022 Dec 27. doi: 10.1038/s41392-022-01239-w
PMCID:
PMC9793359
AbstractArticlePDF–3.7M
3.
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, Céline Chéry, Pierre Rouyer, Catia Cavicchi, Renzo Guerrini, Pierre-Emmanuel Morange, David Trégouët, Mihaela Pupavac, David Watkins, Tomi Pastinen, Wendy K. Chung, Can Ficicioglu, François Feillet, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Jacek Majewski, Amelia Morrone, David S. Rosenblatt, Jean-Louis Guéant
Clin Epigenetics. 2022; 14: 52. Published online 2022 Apr 19. doi: 10.1186/s13148-022-01271-1
PMCID:
PMC9020039
AbstractArticlePDF–1.7M
4.
720例甲基丙二酸血症 MMACHC基因 c.609G>A突变患者临床特征及随访分析
Yue YU, Shiying LING, Ruixue SHUAI, Wenjuan QIU, Huiwen ZHANG, Lili LIANG, Wenjun JI, Yuchao LIU, Xuefan GU, Lianshu HAN
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug; 50(4): 436–443. Chinese. doi: 10.3724/zdxbyxb-2021-0276
PMCID:
PMC8771641
AbstractArticlePDF–2.2M
5.
Epimutation of MMACHC compound to a genetic mutation in cblC cases
Xiaoman Zhang, Qiong Chen, Yinsen Song, Pengbo Guo, Yanhong Wang, Shuying Luo, Yaodong Zhang, Chongchen Zhou, Dongxiao Li, Yongxing Chen, Haiyan Wei
Mol Genet Genomic Med. 2021 Jun; 9(6): e1625. Published online 2021 May 12. doi: 10.1002/mgg3.1625
PMCID:
PMC8222841
AbstractArticlePDF–1.0M
6.
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
7.
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia
Ana Ching-López, Luis Javier Martinez-Gonzalez, Luisa Arrabal, Jorge Sáiz, Ángela Gavilán, Coral Barbas, Jose Antonio Lorente, Susana Roldán, Maria José Sánchez, Purificacion Gutierrez-Ríos
Int J Mol Sci. 2021 Mar; 22(6): 2990. Published online 2021 Mar 15. doi: 10.3390/ijms22062990
PMCID:
PMC8002209
AbstractArticlePDF–1.8M
8.
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology
Jennifer L Sloan, Nathan P Achilly, Madeline L Arnold, Jerrel L Catlett, Trevor Blake, Kevin Bishop, Marypat Jones, Ursula Harper, Milton A English, Stacie Anderson, Niraj S Trivedi, Abdel Elkahloun, Victoria Hoffmann, Brian P Brooks, Raman Sood, Charles P Venditti
Hum Mol Genet. 2020 Aug 3; 29(13): 2109–2123. Published online 2020 Mar 18. doi: 10.1093/hmg/ddaa044
PMCID:
PMC7399538
AbstractArticlePDF–1.4M
9.
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Xiyuan Li, Huifeng Zhang, Min Huang, Chunyan Zhang, Yuwu Jiang, Desheng Liang, Yaping Tian, Yanling Yang
Orphanet J Rare Dis. 2020; 15: 200. Published online 2020 Aug 3. doi: 10.1186/s13023-020-01485-7
PMCID:
PMC7398195
AbstractArticlePDF–526K
10.
The human B12 trafficking protein CblC processes nitrocobalamin
Romila Mascarenhas, Zhu Li, Carmen Gherasim, Markus Ruetz, Ruma Banerjee
J Biol Chem. 2020 Jul 10; 295(28): 9630–9640. Published online 2020 May 26. doi: 10.1074/jbc.RA120.014094
PMCID:
PMC7363124
AbstractArticlePDF–2.3M
11.
THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation
Harmonie Dehaene, Viviane Praz, Philippe Lhôte, Maykel Lopes, Winship Herr
PLoS One. 2020; 15(1): e0224646. Published online 2020 Jan 6. doi: 10.1371/journal.pone.0224646
PMCID:
PMC6944463
AbstractArticlePDF–1.8M
12.
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
13.
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt
Nat Commun. 2018; 9: 67. Published online 2018 Jan 4. doi: 10.1038/s41467-017-02306-5
Correction in:
Nat Commun. 2018; 9: 554.
PMCID:
PMC5754367
AbstractArticlePDF–3.2M
14.
RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination
Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski
BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9
PMCID:
PMC5678581
AbstractArticlePDF–3.2M
15.
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review
Minguang Chen, Jieqiu Zhuang, JianHuan Yang, Dexuan Wang, Qing Yang
Medicine (Baltimore) 2017 Oct; 96(43): e8284. Published online 2017 Oct 27. doi: 10.1097/MD.0000000000008284
PMCID:
PMC5671830
AbstractArticlePDF–799K
16.
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
17.
Coordination chemistry controls the thiol oxidase activity of the B12-trafficking protein CblC
Zhu Li, Aranganathan Shanmuganathan, Markus Ruetz, Kazuhiro Yamada, Nicholas A. Lesniak, Bernhard Kräutler, Thomas C. Brunold, Markos Koutmos, Ruma Banerjee
J Biol Chem. 2017 Jun 9; 292(23): 9733–9744. Published online 2017 Apr 25. doi: 10.1074/jbc.M117.788554
PMCID:
PMC5465496
AbstractArticlePDF–1.9M
18.
Panorama of ancient metazoan macromolecular complexes
Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili
Nature. Author manuscript; available in PMC 2016 Sep 26.
Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877
PMCID:
PMC5036527
AbstractArticlePDF–4.7M
19.
Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking
D. Sean Froese, Jolanta Kopec, Fiona Fitzpatrick, Marion Schuller, Thomas J. McCorvie, Rod Chalk, Tanja Plessl, Victoria Fettelschoss, Brian Fowler, Matthias R. Baumgartner, Wyatt W. Yue
J Biol Chem. 2015 Dec 4; 290(49): 29167–29177. Published online 2015 Oct 19. doi: 10.1074/jbc.M115.683268
PMCID:
PMC4705923
AbstractArticlePDF–2.9M
20.
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC
Yanan Zong, Ning Liu, Zhenhua Zhao, Xiangdong Kong
BMC Med Genet. 2015; 16: 48. Published online 2015 Jul 7. doi: 10.1186/s12881-015-0196-8
PMCID:
PMC4557897
AbstractArticlePDF–927K

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