We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 3

1.
Fig. 2.

Fig. 2. From: S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism.

MR studies of the brain at age 12.7 months, before therapy. Myelination is present only in the posterior part of the internal capsule (arrowhead). Note clear delineation of globi pallidi because of unmyelinated lateral and medial lamina (double black arrow). Pattern of myelination corresponds to an age of 2–3 months.

Ivo Barić, et al. Proc Natl Acad Sci U S A. 2004 March 23;101(12):4234-4239.
2.
Fig. 3.

Fig. 3. From: S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism.

Partial nucleotide sequences of directly sequenced PCR products of patient's exon 4. Each allele bears one mutation as indicated by arrows. M, maternally derived allele, the TGG → TGA nonsense mutation in codon 112 causes replacement of a tryptophan by a premature stop codon. F, paternally derived allele, the TAC → TGC missense mutation in codon 143 causes replacement of a tyrosine by a cysteine. WT, related wild-type sequences of each mutated region are presented (Left).

Ivo Barić, et al. Proc Natl Acad Sci U S A. 2004 March 23;101(12):4234-4239.
3.
Fig. 1.

Fig. 1. From: S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism.

Methionine, AdoMet, and AdoHcy metabolism. AdoMet, S-adenosylmethionine; AdoHcy, S-adenosylhomocysteine; THF, tetrahydrofolate; 5-MTHF, 5-methyltetrahydrofolate; AMP, adenosine monophosphate; MAT, methionine adenosyltransferase (E.C.2.5.1.6); GNMT, glycine N-methyltransferase (E.C.2.1.1.20); MTs, a variety of AdoMet-dependent methyltransferases; SAHH, AdoHcy hydrolase (E.C.3.3.1.1); CBS, cystathionine β-synthase (E.C.4.2.1.22); MS, methionine synthase (5-MTHF-homocysteine methyltransferase) (E.C.2.1.1.13); BHMT, betaine-homocysteine methyltransferase (E.C.2.1.1.5). The numbers represent the following: 1, sarcosine dehydrogenase (E.C.1.5.99.1); 2, N,N-dimethylglycine dehydrogenase (E.C.1.5.99.2); 3, phospholipase D (E.C.3.1.4.4); 4, choline dehydrogenase (E.C.1.1.99.1); 5, betaine aldehyde dehydrogenase (E.C.1.2.1.8); 6, methylenetetrahydrofolate reductase (MTHFR) (E.C.1.5.1.20); 7, γ-cystathionase (E.C.4.4.1.1); 8, glutamate–cysteine ligase (E.C.6.3.2.2); 9, glutathione synthase (E.C.6.3.2.3); 10, adenosine kinase (E.C.2.7.1.20); 11, adenosine deaminase (E.C.3.5.4.4); 12, AdoMet decarboxylase (E.C.4.1.1.50); 13, spermidine (spermine) synthase (E.C.2.5.1.16 and E.C.2.5.1.22); 14, methionine transamination pathway; and 15, phosphatidylethanolamine methyltransferase (PEMT) (E.C.2.1.1.17).

Ivo Barić, et al. Proc Natl Acad Sci U S A. 2004 March 23;101(12):4234-4239.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Write to the Help Desk