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Items: 1 to 20 of 41

1.
Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage
Xue Ma, Mei Lu, Zhehui Chen, Huiting Zhang, Jinqing Song, Hui Dong, Ying Jin, Mengqiu Li, Ruxuan He, Lulu Kang, Yi Liu, Yongxing Chen, Zhijun Zhu, Liying Sun, Yao Zhang, Yanling Yang
BMC Pediatr. 2024; 24: 713. Published online 2024 Nov 7. doi: 10.1186/s12887-024-05196-x
PMCID:
PMC11542214
AbstractArticlePDF–1.2M
2.
Tangshen formula improves diabetic nephropathy in STZ-induced diabetes rats fed with hyper-methionine by regulating the methylation status of kidney
Yongwei Jiang, GuoXiong Deng, Chengyin Liu, Han Tang, Jing Zheng, Xiaomu Kong, Meimei Zhao, Yi Liu, Peng Gao, Tianbao Li, Hailing Zhao, Yongtong Cao, Ping Li, Liang Ma
Clin Epigenetics. 2024; 16: 1. Published online 2024 Jan 2. doi: 10.1186/s13148-023-01620-8
PMCID:
PMC10763145
AbstractArticlePDF–1.6M
3.
Effects of S-Adenosylhomocysteine Hydrolase Downregulation on Wnt Signaling Pathway in SW480 Cells
Ivana Pavičić, Filip Rokić, Oliver Vugrek
Int J Mol Sci. 2023 Nov; 24(22): 16102. Published online 2023 Nov 8. doi: 10.3390/ijms242216102
PMCID:
PMC10671441
AbstractArticlePDF–7.1M
4.
Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China
Fan Tong, Yuchen Zhang, Chi Chen, Ling Zhu, Yijun Lu, Zhanming Zhang, Ting Chen, Jiaxuan Yan, Jing Zheng, Xiaoxu Zhao, Duo Zhou, Xin Yang, Rulai Yang, Xiaohui Cang, Pingping Jiang, Qiang Shu
Front Cell Dev Biol. 2022; 10: 1059680. Published online 2023 Jan 10. doi: 10.3389/fcell.2022.1059680
PMCID:
PMC9871361
AbstractArticlePDF–2.7M
5.
Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening
Vanessa Hübner, Luciana Hannibal, Nils Janzen, Sarah Catharina Grünert, Peter Freisinger
Genes (Basel) 2022 Jul; 13(7): 1163. Published online 2022 Jun 27. doi: 10.3390/genes13071163
PMCID:
PMC9323693
AbstractArticlePDF–1.5M
6.
Reversible White Matter Lesion in Methionine Adenosyltransferase I/III Deficiency
Hiroko Tada, Jun-ichi Takanashi, A. James Barkovich, Shigenori Yamamoto, Yoichi Kohno
AJNR Am J Neuroradiol. 2004 Nov; 25(10): 1843–1845.
PMCID:
PMC8148727
AbstractArticlePDF–131K
7.
Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene
Jiraporn Panmanee, Svetlana V. Antonyuk, S. Samar Hasnain
Acta Crystallogr D Struct Biol. 2020 Jun 1; 76(Pt 6): 594–607. Published online 2020 May 29. doi: 10.1107/S2059798320006002
PMCID:
PMC7271947
AbstractArticlePDF–3.6M
8.
Control and regulation of S‐Adenosylmethionine biosynthesis by the regulatory β subunit and quinolone‐based compounds
Jiraporn Panmanee, Jack Bradley‐Clarke, Jose M. Mato, Paul M. O'Neill, Svetlana V. Antonyuk, S. Samar Hasnain
FEBS J. 2019 Jun; 286(11): 2135–2154. Published online 2019 Mar 4. doi: 10.1111/febs.14790
PMCID:
PMC6850014
AbstractArticlePDF–5.7M
9.
Hypermethioninemia in Campania: Results from 10 years of newborn screening
Guglielmo R.D. Villani, Lucia Albano, Marianna Caterino, Daniela Crisci, Silvia Di Tommaso, Simona Fecarotta, Maria Grazia Fisco, Giulia Frisso, Giovanna Gallo, Cristina Mazzaccara, Emanuela Marchese, Antonio Nolano, Giancarlo Parenti, Rita Pecce, Adriana Redi, Francesco Salvatore, Pietro Strisciuglio, Maria Grazia Turturo, Fabiana Vallone, Margherita Ruoppolo
Mol Genet Metab Rep. 2019 Dec; 21: 100520. Published online 2019 Oct 11. doi: 10.1016/j.ymgmr.2019.100520
PMCID:
PMC6796781
AbstractArticlePDF–487K
10.
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism
Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai, David S. Cram
BMC Med Genet. 2019; 20: 3. Published online 2019 Jan 6. doi: 10.1186/s12881-018-0731-5
PMCID:
PMC6322297
AbstractArticlePDF–2.9M
11.
Complementation of a metK-deficient E. coli strain with heterologous AdoMet synthetase genes
Gwenn G. Parungao, Mojun Zhao, Qinzhe Wang, Stephen P. Zano, Ronald E. Viola, Robert M. Blumenthal
Microbiology (Reading) 2017 Dec; 163(12): 1812–1821. Published online 2017 Nov 7. doi: 10.1099/mic.0.000565
PMCID:
PMC5845735
AbstractArticlePDF–4.1M
12.
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations
Marwan Nashabat, Sultan Al-Khenaizan, Majid Alfadhel
Ther Clin Risk Manag. 2018; 14: 225–229. Published online 2018 Feb 2. doi: 10.2147/TCRM.S151732
PMCID:
PMC5798556
AbstractArticlePDF–534K
13.
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
Michael J. Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos R. Ferreira
Mol Genet Metab Rep. 2017 Dec; 13: 9–12. Published online 2017 Jul 15. doi: 10.1016/j.ymgmr.2017.07.004
PMCID:
PMC5512230
AbstractArticlePDF–349K
14.
Bone Marrow Adipose Tissue Deficiency Increases Disuse-Induced Bone Loss in Male Mice
Jessica A. Keune, Carmen P. Wong, Adam J. Branscum, Urszula T. Iwaniec, Russell T. Turner
Sci Rep. 2017; 7: 46325. Published online 2017 Apr 12. doi: 10.1038/srep46325
PMCID:
PMC5389344
AbstractArticlePDF–1.6M
15.
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
Ivo Barić, Christian Staufner, Persephone Augoustides-Savvopoulou, Yin-Hsiu Chien, Dries Dobbelaere, Sarah C. Grünert, Thomas Opladen, Danijela Petković Ramadža, Bojana Rakić, Anna Wedell, Henk J. Blom
J Inherit Metab Dis. 2017; 40(1): 5–20. Published online 2016 Sep 26. doi: 10.1007/s10545-016-9972-7
PMCID:
PMC5203850
AbstractArticlePDF–570K
16.
Adenosine Kinase Deficiency in the Brain Results in Maladaptive Synaptic Plasticity
Ursula S. Sandau, Mariana Colino-Oliveira, Abbie Jones, Bounmy Saleumvong, Shayla Q. Coffman, Long Liu, Catarina Miranda-Lourenço, Cátia Palminha, Vânia L. Batalha, Yiming Xu, Yuqing Huo, Maria J. Diógenes, Ana M. Sebastião, Detlev Boison
J Neurosci. 2016 Nov 30; 36(48): 12117–12128. doi: 10.1523/JNEUROSCI.2146-16.2016
PMCID:
PMC5148215
AbstractArticlePDF–20M
17.
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies
Yoo-Mi Kim, Ja Hye Kim, Jin-Ho Choi, Gu-Hwan Kim, Jae-Min Kim, Minji Kang, In-Hee Choi, Chong Kun Cheon, Young Bae Sohn, Marco Maccarana, Han-Wook Yoo, Beom Hee Lee
Mol Med. 2016; 22: 147–155. Published online 2016 Feb 18. doi: 10.2119/molmed.2015.00254
PMCID:
PMC5004716
AbstractArticlePDF–1.1M
18.
Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency
Antje Motzek, Jelena Knežević, Olivier J. Switzeny, Alexis Cooper, Ivo Barić, Robert Beluzić, Kevin A. Strauss, Erik G. Puffenberger, S. Harvey Mudd, Oliver Vugrek, Ulrich Zechner
PLoS One. 2016; 11(3): e0151261. Published online 2016 Mar 14. doi: 10.1371/journal.pone.0151261
PMCID:
PMC4790936
AbstractArticlePDF–1.8M
19.
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency
Stefan Stender, Rima S. Chakrabarti, Chao Xing, Garrett Gotway, Jonathan C. Cohen, Helen H. Hobbs
Mol Genet Metab. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Mol Genet Metab. 2015 Dec; 116(4): 269–274. Published online 2015 Oct 26. doi: 10.1016/j.ymgme.2015.10.009
PMCID:
PMC4733618
AbstractArticlePDF–285K
20.
Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Yin-Hsiu Chien, Jose E. Abdenur, Federico Baronio, Allison Anne Bannick, Fernando Corrales, Maria Couce, Markus G. Donner, Can Ficicioglu, Cynthia Freehauf, Deborah Frithiof, Garrett Gotway, Koichi Hirabayashi, Floris Hofstede, George Hoganson, Wuh-Liang Hwu, Philip James, Sook Kim, Stanley H. Korman, Robin Lachmann, Harvey Levy, Martin Lindner, Lilia Lykopoulou, Ertan Mayatepek, Ania Muntau, Yoshiyuki Okano, Kimiyo Raymond, Estela Rubio-Gozalbo, Sabine Scholl-Bürgi, Andreas Schulze, Rani Singh, Sally Stabler, Mary Stuy, Janet Thomas, Conrad Wagner, William G. Wilson, Saskia Wortmann, Shigenori Yamamoto, Maryland Pao, Henk J. Blom
Orphanet J Rare Dis. 2015; 10: 99. Published online 2015 Aug 20. doi: 10.1186/s13023-015-0321-y
PMCID:
PMC4545930
AbstractArticlePDF–1.2M

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