Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

[1]  H. Vogel,et al.  The solution structure of the C-terminal domain of TonB and interaction studies with TonB box peptides. , 2005, Journal of molecular biology.

[2]  K. Diederichs,et al.  Crystal Structure of a 92-Residue C-terminal Fragment of TonB from Escherichia coli Reveals Significant Conformational Changes Compared to Structures of Smaller TonB Fragments* , 2005, Journal of Biological Chemistry.

[3]  L. Maquat.  Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics , 2004, Nature Reviews Molecular Cell Biology.

[4]  Peter Donnelly,et al.  A comparison of bayesian methods for haplotype reconstruction from population genotype data. , 2003, American journal of human genetics.

[5]  A. Wlodawer,et al.  Crystal Structure of the Dimeric C-terminal Domain of TonB Reveals a Novel Fold* , 2001, The Journal of Biological Chemistry.

[6]  P. Donnelly,et al.  A new statistical method for haplotype reconstruction from population data. , 2001, American journal of human genetics.

[7]  D. Watkins,et al.  Complementation studies in the cblAclass of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH) , 2000, Journal of medical genetics.

[8]  E. Shoubridge,et al.  Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. , 1999, Human molecular genetics.

[9]  G J Kleywegt,et al.  Experimental assessment of differences between related protein crystal structures. , 1999, Acta crystallographica. Section D, Biological crystallography.

[10]  R. Kadner,et al.  Site-directed disulfide bonding reveals an interaction site between energy-coupling protein TonB and BtuB, the outer membrane cobalamin transporter. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[11]  D. Watkins.  Cobalamin metabolism in methionine-dependent human tumour and leukemia cell lines. , 1998, Clinical and investigative medicine. Medecine clinique et experimentale.

[12]  P. Green,et al.  Consed: a graphical tool for sequence finishing. , 1998, Genome research.

[13]  P. Green,et al.  Base-calling of automated sequencer traces using phred. I. Accuracy assessment. , 1998, Genome research.

[14]  M. Seashore,et al.  Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC) , 1997, Journal of Inherited Metabolic Disease.

[15]  Paul Horton,et al.  Better Prediction of Protein Cellular Localization Sites with the it k Nearest Neighbors Classifier , 1997, ISMB.

[16]  R. Matthews,et al.  How a protein binds B12: A 3.0 A X-ray structure of B12-binding domains of methionine synthase. , 1994, Science.

[17]  T. Blundell,et al.  Comparative protein modelling by satisfaction of spatial restraints. , 1993, Journal of molecular biology.

[18]  J. Thornton,et al.  PROCHECK: a program to check the stereochemical quality of protein structures , 1993 .

[19]  J. Konisky,et al.  Genetic suppression demonstrates interaction of TonB protein with outer membrane transport proteins in Escherichia coli , 1990, Journal of bacteriology.

[20]  A. Miller,et al.  Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production , 1986, Molecular and cellular biology.

[21]  R. Laframboise,et al.  Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism. , 1985, Science.

[22]  H. Willard,et al.  Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells. , 1979, The Journal of biological chemistry.

[23]  D. Jacobsen,et al.  Homocysteine in health and disease , 2001 .

[24]  E. Boerwinkle,et al.  Recombinational and mutational hotspots within the human lipoprotein lipase gene. , 2000, American journal of human genetics.

[25]  H. Andersson,et al.  Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). , 1998, The Journal of pediatrics.