Jordan P Lerner-Ellis
Affiliation: Harvard University
- Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlationsJordan P Lerner-Ellis
Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada
Hum Mutat 30:1072-81. 2009..Differential or preferential MMACHC transcript levels may provide a clue as to why individuals carrying c.394C>T generally present later in life...
- Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolismJordan P Lerner-Ellis
Department of Human Genetics, McGill University, Montreal, Quebec, Canada
Hum Mutat 24:509-16. 2004..Restriction endonuclease or heteroduplex diagnostic tests were designed to confirm mutations. None of the sequence changes identified in cblA patients were found in 100 alleles from unrelated control individuals...
- Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC typeJordan P Lerner-Ellis
Department of Human Genetics, McGill University, Montreal, Quebec, Canada, H3G 1B1
Nat Genet 38:93-100. 2006..Molecular modeling predicts that the C-terminal region of the gene product folds similarly to TonB, a bacterial protein involved in energy transduction for cobalamin uptake...
- Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observationsChantal F Morel
Department of Human Genetics and Division of Medical Genetics, Department of Medicine, McGill University, Montreal, Que, Canada
Mol Genet Metab 88:315-21. 2006..Further study into disease mechanism of specific mutations will help to understand phenotypic presentations and the overall pathogenesis in cblC patients...
- Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependenceAmanda D Loewy
Department of Human Genetics, McGill University, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Ave, Room L3 319, Montreal, Que, Canada H3G 1A4
Mol Genet Metab 96:261-7. 2009..We conclude that epigenetic inactivation of the MMACHC gene is responsible for methionine dependence in MeWo-LC1...
- Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduriaJordan P Lerner-Ellis
Department of Human Genetics, McGill University, Montreal, Que, Canada
Mol Genet Metab 87:219-25. 2006..556C >T (p.R186W), was particularly common, accounting for 33% of pathogenic alleles. It was seen almost exclusively in patients of European background and was typically associated with presentation in the first year of life...