M B Coulter-Mackie

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. ncbi request reprint Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Can J Neurol Sci 29:159-63. 2002
  2. ncbi request reprint Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Am J Nephrol 25:264-8. 2005
  3. ncbi request reprint The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
    Mol Genet Metab 86:172-8. 2005
  4. ncbi request reprint A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion
    M B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Clin Biochem 31:627-32. 1998
  5. doi request reprint Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Clin Biochem 41:598-602. 2008
  6. ncbi request reprint 4-Hydroxyproline metabolism and glyoxylate production: A target for substrate depletion in primary hyperoxaluria?
    M B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Kidney Int 70:1891-3. 2006
  7. ncbi request reprint Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada V6H 3N1
    Protein Expr Purif 41:18-26. 2005
  8. ncbi request reprint Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Children s and Women s Health Centre of B C 4500 Oak Street, Vancouver, BC, Canada V6H 3N1
    Mol Genet Metab 83:38-46. 2004
  9. ncbi request reprint The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada V6H 3V4
    Mol Genet Metab 82:64-8. 2004
  10. doi request reprint 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
    M B Coulter-Mackie
    Department of Pediatrics, Children and Women s Health Centre of BC, University of British Columbia, 4500 Oak Street, Vancouver, BC, Canada
    Mol Genet Metab 94:368-74. 2008

Detail Information

Publications19

  1. ncbi request reprint Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Can J Neurol Sci 29:159-63. 2002
    ..Metachromatic leukodystrophy (MLD) is a genetic neurodegenerative disorder resulting from a deficiency of arylsulfatase A. Late onset forms are relatively rare. Central nervous system (CNS) involvement is characteristic at all ages...
  2. ncbi request reprint Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Am J Nephrol 25:264-8. 2005
    ..There are more than 50 mutations identified in the gene for AGT. Four mutations, G170R, 33_34insC, F152I and I244T account for more than 50% of PH1 alleles. The question arose whether there are ethnic differences in PH1 genotype...
  3. ncbi request reprint The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
    Mol Genet Metab 86:172-8. 2005
    ..S218L was apparently homozygous in two individuals. These findings contribute to our overall picture of heterogeneity of mutations in PH1 and the AGT major allele...
  4. ncbi request reprint A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion
    M B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Clin Biochem 31:627-32. 1998
    ..To develop a protocol capable of identifying deletions in mitochondrial DNA and use it to identify the breakpoints of a mtDNA deletion in a patient with chronic progressive external ophthalmoplegia (CPEO)...
  5. doi request reprint Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Clin Biochem 41:598-602. 2008
    ..To test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1)...
  6. ncbi request reprint 4-Hydroxyproline metabolism and glyoxylate production: A target for substrate depletion in primary hyperoxaluria?
    M B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Kidney Int 70:1891-3. 2006
    ..Metabolism of hydroxyproline, derived from collagen turnover or the diet, appears to be a major source of glyoxylate, and a potential target for a therapeutic strategy of substrate depletion...
  7. ncbi request reprint Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada V6H 3N1
    Protein Expr Purif 41:18-26. 2005
    ..Furthermore, our data show that mutations with serious consequences in vivo may not be inherently catalytically inactive and may be rescuable...
  8. ncbi request reprint Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Children s and Women s Health Centre of B C 4500 Oak Street, Vancouver, BC, Canada V6H 3N1
    Mol Genet Metab 83:38-46. 2004
    ..As DNA testing becomes more commonly used for diagnosis it is important to correlate observed sequence changes with previously documented changes as an aid to assessing their potential significance...
  9. ncbi request reprint The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada V6H 3V4
    Mol Genet Metab 82:64-8. 2004
    ..Five of the novel mutations were detected in patients who were compound heterozygotes for one of the common mis-targeting mutation, G170R or F152I, while the other two mutations occurred in the same patient...
  10. doi request reprint 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
    M B Coulter-Mackie
    Department of Pediatrics, Children and Women s Health Centre of BC, University of British Columbia, 4500 Oak Street, Vancouver, BC, Canada
    Mol Genet Metab 94:368-74. 2008
    ..For selected mutations the sensitivity to trypsin could be ameliorated by addition of pyridoxal phosphate or aminooxy acetic acid as specific pharmacological chaperones...
  11. ncbi request reprint Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada V6H 3V4
    Mol Genet Metab 79:91-8. 2003
    ..A previously reported mutation, R84Q was identified on a pseudodeficiency allele. These mutations are part of a heterogeneous spectrum of mutations found in a collection of DNA samples from MLD patients from across Canada and the USA...
  12. ncbi request reprint The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans
    Marion B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver BC, Canada
    Mol Genet Metab 78:44-50. 2003
    ..Among the South African Blacks tested, the Mi(A) haplotype had an allele frequency of 12% compared to 3 % for the Caucasian-type minor allele haplotype...
  13. ncbi request reprint Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria
    M B Coulter-Mackie
    Department of Pediatrics, British Columbia Children s Hospital, University of British Columbia, 4480 Oak Street, Room 2F22, Vancouver, BC, Canada V6H 3V4
    Mol Genet Metab 74:314-21. 2001
    ..All three deletions are heterozygous with previously documented missense mutations; the intron 6 deletion with F152I, the exon 11 deletion with G82E, and EX1 EX5del with the common mistargeting mutation, G170R...
  14. ncbi request reprint Biochemical and molecular investigations of patients with nonketotic hyperglycinemia
    J R Toone
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
    Mol Genet Metab 70:116-21. 2000
    ....
  15. ncbi request reprint 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)
    J R Toone
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
    Mol Genet Metab 72:322-5. 2001
    ..In addition, a novel point mutation in T-protein, N145I, was found in a single case and a PCR/restriction enzyme assay was developed for its detection...
  16. ncbi request reprint Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations
    M B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Children s and Women s Health Centre, Vancouver, BC, Canada
    Mol Genet Metab 89:349-59. 2006
    ..The minor allele AGT product and many of the mutants were subject to a limited non-proteasomal proteolytic cleavage when ATP was depleted...
  17. ncbi request reprint Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia
    J R Toone
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
    Hum Mutat 17:76. 2001
    ..A PCR/restriction enzyme method to detect this mutation was used to screen 100 NKH alleles and identified the mutation in three unrelated families...
  18. ncbi request reprint Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)
    Jennifer R Toone
    Department of Pediatrics, University of British Columbia, and Biochemical Genetics Laboratory, B C s Children s Hospital, Vancouver, BC, Canada
    Mol Genet Metab 79:272-80. 2003
    ..The co-occurrence of the polymorphism E211K with the mutation R320H in patients with a severe phenotype is discussed...
  19. ncbi request reprint Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)
    Jennifer R Toone
    Department of Pediatrics, University of British Columbia, BC, Vancouver, Canada
    Mol Genet Metab 76:243-9. 2002
    ..The mutations identified were of eight single base changes: a one-base deletion 1054del A, a splice site mutation IVS18-2A-->G and six amino acid substitutions A283P, A313P, P329T, R410K, P700A, and G762R...