| Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Coulter-Mackie M.B., Li A., Lian Q., Struys E., Stockler S., Waters P.J.
Mol. Genet. Metab. 106:478-481(2012) · Mapped (1) |
| Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants. Coulter-Mackie M.B., Lian Q.
Mol. Genet. Metab. 94:368-374(2008) · Mapped (8) |
| Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations. Coulter-Mackie M.B., Lian Q.
Mol. Genet. Metab. 89:349-359(2006) · Mapped (8) |
| The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. Coulter-Mackie M.B., Lian Q., Applegarth D., Toone J.
Mol. Genet. Metab. 86:172-178(2005) · UniProtKB (1) |
| Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor. Coulter-Mackie M.B., Lian Q., Wong S.G.
Protein Expr. Purif. 41:18-26(2005) · Mapped (8) |
| The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans. Coulter-Mackie M.B., Tung A., Henderson H.E., Toone J.R., Applegarth D.A.
Mol. Genet. Metab. 78:44-50(2003) · UniProtKB (1) |
| Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism. Coulter-Mackie M.B., Rip J., Beis M.J., Ferreira P., Ludman M.D.
J. Med. Genet. 38:E15-E15(2001) · Mapped (4) |
| Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). Toone J.R., Applegarth D.A., Coulter-Mackie M.B., James E.R.
Mol. Genet. Metab. 72:322-325(2001) · UniProtKB (2) |
| Variable onset of metachromatic leukodystrophy in a Vietnamese family. Arbour L.T., Silver K., Hechtman P., Treacy E.P., Coulter-Mackie M.B.
Pediatr. Neurol. 23:173-176(2000) · UniProtKB (1) |
| Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Toone J.R., Applegarth D.A., Coulter-Mackie M.B., James E.R.
Mol. Genet. Metab. 70:116-121(2000) · UniProtKB (2) |
| Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy. Coulter-Mackie M.B., Gagnier L.
Hum. Mutat. Suppl. 1:S254-S256(1998) · UniProtKB (1) · Mapped (3) |
| Purification and structure of human liver aspartylglucosaminidase. Rip J.W., Coulter-Mackie M.B., Rupar C.A., Gordon B.A.
Biochem. J. 288:1005-1010(1992) · UniProtKB (1) |
