Author

R A Gravel

Observed names: Gravel, R., R Gravel, R. A. GRAVEL, R. A. Gravel, R. GRAVEL, R. Gravel, R.A. Gravel, RA Gravel

Observed institutions: Children's Hospital of Philadelphia, University of Calgary, University of Toronto, Montreal Children's Hospital, Great Ormond Street Hospital, Hamilton General Hospital, Hospital for Sick Children, McGill University Health Centre, University of California San Diego, Royal Victoria Hospital, Alberta Children's Hospital Research Institute, Sickkids Research Institute, Saint Louis University, McGill University, Universidad Nacional Autónoma de México

OpenAlex ID: A5111503454

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria

1998 · D. Leclerc, A. Wilson, et al. · Proceedings of the National Academy of Sciences · 392

A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk.

1999 · J Ma, M J Stampfer, et al. · PubMed · 259

Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases

1996 · D. Phaneuf, N. Wakamatsu, et al. · Human Molecular Genetics · 257

Isolation and characterization of the human catalase gene

1986 · F. Quan, R.G. Korneluk, et al. · Nucleic Acids Research · 211

Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.

1987 · A Oshima, J W Kyle, et al. · Proceedings of the National Academy of Sciences · 182

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

1986 · R G Korneluk, D J Mahuran, et al. · Journal of Biological Chemistry · 177

Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases

1997 · J.-Q. Huang, J. M. Trasler, et al. · Human Molecular Genetics · 167

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1988 · E. Arpaia, A. Dumbrille-Ross, et al. · Nature · 141

Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.

1985 · B F O'Dowd, F Quan, et al. · Proceedings of the National Academy of Sciences · 116

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

1995 · A León-Del-Rio, D Leclerc, et al. · Proceedings of the National Academy of Sciences · 110

Biotin-response Organicaciduria

1979 · M. Saunders, L. Sweetman, et al. · Journal of Clinical Investigation · 107

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Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

1977 · R A Gravel, K F Lam, et al. · Europe PMC (PubMed Central) · 105

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

1975 · R A Gravel, M J Mahoney, et al. · Proceedings of the National Academy of Sciences · 104

Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.

1986 · A M Lamhonwah, T J Barankiewicz, et al. · Proceedings of the National Academy of Sciences · 100

Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase alpha subunit expressed in Escherichia coli.

1994 · A. Leon-Del-Rio, R.A. Gravel · Journal of Biological Chemistry · 97

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Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

1986 · B F O'Dowd, M H Klavins, et al. · Journal of Biological Chemistry · 88

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.

1990 · K Neote, B McInnes, et al. · Journal of Clinical Investigation · 81

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Purification of human liver propionyl-CoA carboxylase by carbon tetrachloride extraction and monomeric avidin affinity chromatography

1980 · R.A. Gravel, K.F. Lam, et al. · Archives of Biochemistry and Biophysics · 80

Biological detection of specific mRNA molecules by microinjection.

1979 · C P Liu, D L Slate, et al. · Proceedings of the National Academy of Sciences · 78

Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.

1988 · D J Mahuran, K Neote, et al. · Journal of Biological Chemistry · 77

Cloning of the cDNA and Gene Encoding Mouse Lysosomal Sialidase and Correction of Sialidase Deficiency in Human Sialidosis and Mouse SM/J Fibroblasts

1998 · S. A. Igdoura, C. Gafuik, et al. · Human Molecular Genetics · 58

Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.

1982 · M E Saunders, W G Sherwood, et al. · Europe PMC (PubMed Central) · 57

Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway

2006 · P Bifsha, K Landry, et al. · Cell Death and Differentiation · 56

[3H]biotin-labeled proteins in cultured human skin fibroblasts from patients with pyruvate carboxylase deficiency.

1983 · B H Robinson, J Oei, et al. · Journal of Biological Chemistry · 56

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder

2010 · D.S. Froese, S. Healy, et al. · Molecular Genetics and Metabolism · 55

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Works count: 65

Citation count: 3,974

H-index: 34

I10-index: 49