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Select item 24419441.

S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

I. Barić, M. Ćuk, K. Fumić, O. Vugrek, R. H. Allen, B. Glenn, M. Maradin, L. Pažanin, I. Pogribny, M. Radoš, V. Sarnavka, A. Schulze, S. Stabler, C. Wagner, S. H. Zeisel, S. H. Mudd

J Inherit Metab Dis. Author manuscript; available in PMC 2008 Jun 30.

Published in final edited form as: J Inherit Metab Dis. 2005; 28(6): 885–902. doi: 10.1007/s10545-005-0192-9

PMCID:: PMC2441944

Abstract Article PDF–354K

Select item 3706192.

Proposed explanation for S-adenosylhomocysteine hydrolase deficiency in purine nucleoside phosphorylase and hypoxanthine-guanine phosphoribosyltransferase-deficient patients.

M S Hershfield

J Clin Invest. 1981 Mar; 67(3): 696–701. doi: 10.1172/JCI110085

PMCID:: PMC370619

Summary Page Browse PDF–933K

Select item 90261683.

Case Report: Advanced Skeletal Muscle Imaging in S-Adenosylhomocysteine Hydrolase Deficiency and Further Insight Into Muscle Pathology

Danijela Petković Ramadža, Ivana Kuhtić, Kamelija Žarković, Hanns Lochmüller, Mislav Čavka, Ida Kovač, Ivo Barić, Maja Prutki

Front Pediatr. 2022; 10: 847445. Published online 2022 Apr 8. doi: 10.3389/fped.2022.847445

PMCID:: PMC9026168

Abstract Article PDF–574K

Select item 88401054.

Betaine Supplementation Attenuates S-Adenosylhomocysteine Hydrolase-Deficiency-Accelerated Atherosclerosis in Apolipoprotein E-Deficient Mice

Xin Dai, Si Liu, Lokyu Cheng, Ting Huang, Honghui Guo, Dongliang Wang, Min Xia, Wenhua Ling, Yunjun Xiao

Nutrients. 2022 Feb; 14(3): 718. Published online 2022 Feb 8. doi: 10.3390/nu14030718

PMCID:: PMC8840105

Abstract Article PDF–2.8M

Select item 3847245.

S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism

Ivo Barić, Ksenija Fumić, Byron Glenn, Mario Ćuk, Andreas Schulze, James D. Finkelstein, S. Jill James, Vlatka Mejaški-Bošnjak, Leo Pažanin, Igor P. Pogribny, Marko Radoš, Vladimir Sarnavka, Mira Šćukanec-Špoljar, Robert H. Allen, Sally Stabler, Lidija Uzelac, Oliver Vugrek, Conrad Wagner, Steven Zeisel, S. Harvey Mudd

Proc Natl Acad Sci U S A. 2004 Mar 23; 101(12): 4234–4239. Published online 2004 Mar 15. doi: 10.1073/pnas.0400658101

PMCID:: PMC384724

Abstract Article PDF–374K

Select item 24306736.

S-Adenosylhomocysteine hydrolase deficiency in a 26-year-old man

N. R. M. Buist, B. Glenn, O. Vugrek, C. Wagner, S. Stabler, R. H. Allen, I. Pogribny, A. Schulze, S. H. Zeisel, I. Barić, S. H. Mudd

J Inherit Metab Dis. Author manuscript; available in PMC 2008 Jun 18.

Published in final edited form as: J Inherit Metab Dis. 2006 Aug; 29(4): 538–545. Published online 2006 May 30. doi: 10.1007/s10545-006-0240-0

PMCID:: PMC2430673

Abstract Article PDF–1.0M

Select item 47336187.

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

Abstract Article PDF–285K

Select item 16528168.

A single mutation at Tyr¹⁴³ of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide–adenine dinucleotide

Robert Belužić, Mario Ćuk, Tea Pavkov, Ksenija Fumić, Ivo Barić, S. Harvey Mudd, Igor Jurak, Oliver Vugrek

Biochem J. 2006 Dec 1; 400(Pt 2): 245–253. Prepublished online 2006 Jul 27. Published online 2006 Nov 14. doi: 10.1042/BJ20060749

PMCID:: PMC1652816

Abstract Article PDF–422K

Select item 92499459.

The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency

Yue Huang, Richard Chang, Jose E. Abdenur

Mol Genet Metab Rep. 2022 Sep; 32: 100885. Published online 2022 Jun 23. doi: 10.1016/j.ymgmr.2022.100885

PMCID:: PMC9249945

Abstract Article PDF–924K

Select item 819322310.

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Tamara Žigman, Danijela Petković Ramadža, Goran Šimić, Ivo Barić

Front Neurosci. 2021; 15: 673600. Published online 2021 May 28. doi: 10.3389/fnins.2021.673600

PMCID:: PMC8193223

Abstract Article PDF–541K

Select item 50751811.

Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.

M E Chamberlin, T Ubagai, S H Mudd, W G Wilson, J V Leonard, J Y Chou

J Clin Invest. 1996 Aug 15; 98(4): 1021–1027. doi: 10.1172/JCI118862

PMCID:: PMC507518

Summary PDF–422K

Select item 180150512.

Isolated persistent hypermethioninemia.

S H Mudd, H L Levy, A Tangerman, C Boujet, N Buist, A Davidson-Mundt, L Hudgins, K Oyanagi, M Nagao, W G Wilson

Am J Hum Genet. 1995 Oct; 57(4): 882–892.

PMCID:: PMC1801505

Summary Page Browse PDF–1.6M

Select item 171252913.

Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.

M E Chamberlin, T Ubagai, S H Mudd, H L Levy, J Y Chou

Am J Hum Genet. 1997 Mar; 60(3): 540–546.

PMCID:: PMC1712529

Summary Page Browse PDF–1.4M

Select item 168454814.

The natural history of homocystinuria due to cystathionine β-synthase deficiency

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy, Karen D. Pettigrew, Bridget Wilcken, Reed E. Pyeritz, G. Andria, Godfried H. J. Boers, Irvin L. Bromberg, Roberto Cerone, Brian Fowler, H. Gröbe, Hildgund Schmidt, Leslie Schweitzer

Am J Hum Genet. 1985 Jan; 37(1): 1–31.

PMCID:: PMC1684548

Summary Page Browse PDF–3.2M

Select item 128808715.

Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations

Margaret E. Chamberlin, Tsuneyuki Ubagai, S. Harvey Mudd, Janet Thomas, Vivian Y. Pao, Thien K. Nguyen, Harvey L. Levy, Carol Greene, Cynthia Freehauf, Janice Yang Chou

Am J Hum Genet. 2000 Feb; 66(2): 347–355. Published online 2000 Feb 11. doi: 10.1086/302752

PMCID:: PMC1288087

Abstract Article PDF–363K

Select item 428968216.

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

Dong-chuan Guo, Limin Gong, Ellen S. Regalado, Regie L. Santos-Cortez, Ren Zhao, Bo Cai, Sudha Veeraraghavan, Siddharth K. Prakash, Ralph J. Johnson, Ann Muilenburg, Marcia Willing, Guillaume Jondeau, Catherine Boileau, Hariyadarshi Pannu, Rocio Moran, Julie Debacker, GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project, Montalcino Aortic Consortium, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Suzanne M. Leal, C.S. Raman, Eric C. Swindell, Dianna M. Milewicz

Am J Hum Genet. 2015 Jan 8; 96(1): 170–177. doi: 10.1016/j.ajhg.2014.11.015

PMCID:: PMC4289682

Abstract Article PDF–1.5M

Select item 18583117.

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

T Ubagai, K J Lei, S Huang, S H Mudd, H L Levy, J Y Chou

J Clin Invest. 1995 Oct; 96(4): 1943–1947. doi: 10.1172/JCI118240

PMCID:: PMC185831

Summary Page Browse PDF–1.3M

Select item 318883218.

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus K. Bjursell, Henk J. Blom, Jordi Asin Cayuela, Martin L. Engvall, Nicole Lesko, Shanti Balasubramaniam, Göran Brandberg, Maria Halldin, Maria Falkenberg, Cornelis Jakobs, Desiree Smith, Eduard Struys, Ulrika von Döbeln, Claes M. Gustafsson, Joakim Lundeberg, Anna Wedell

Am J Hum Genet. 2011 Oct 7; 89(4): 507–515. doi: 10.1016/j.ajhg.2011.09.004

PMCID:: PMC3188832

Abstract Article PDF–623K

Select item 406520819.

Glycine N-methyltransferase expression in the hippocampus and its role in neurogenesis and cognitive performance

Manuel Carrasco, Luis G. Rabaneda, Maribel Murillo-Carretero, Sylvia Ortega-Martínez, María L. Martínez-Chantar, Ashwin Woodhoo, Zigmund Luka, Conrad Wagner, Shelly C. Lu, José M. Mato, Juan A. Micó, Carmen Castro

Hippocampus. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Hippocampus. 2014 Jul; 24(7): 840–852. Published online 2014 Apr 8. doi: 10.1002/hipo.22274

PMCID:: PMC4065208

Abstract Article PDF–1.2M

Select item 1076314520.

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

Abstract Article PDF–1.6M

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PMC Articles for MedGen (Select 462408) (28)
PMC
hypothetical protein [Burkholderia pseudomallei]
hypothetical protein [Burkholderia pseudomallei]
gi|490686629|ref|WP_004551190.1|

Protein
flagellar M-ring protein FliF C-terminal domain-containing protein, partial [Xan...
flagellar M-ring protein FliF C-terminal domain-containing protein, partial [Xanthomonas arboricola]
gi|2452226823|ref|WP_275044004.1|

Protein
Stelis nephropetala (0)
Structure
MULTISPECIES: 30S ribosomal protein S3 [Mycobacterium]
MULTISPECIES: 30S ribosomal protein S3 [Mycobacterium]
gi|489498680|ref|WP_003403590.1|

Protein

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