David Valle

Professor

1971 …2020

Research output per year

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Research Output

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2000

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: A new inborn error caused by a mutationin in the gene encoding Δ1-pyrroline-5-carboxylate synthase

Baumgartner, M. R., Hu, C. A. A., Almashanu, S., Steel, G., Obie, C., Aral, B., Rabier, D., Kamoun, P., Saudubray, J. M. & Valle, D., Nov 22 2000, In : Human molecular genetics. 9, 19, p. 2853-2858 6 p.

Research output: Contribution to journalArticle

Online Mendelian Inheritance in Man (OMIM)

Hamosh, A., Scott, A. F., Amberger, J., Valle, D. & McKusick, V. A., Jan 19 2000, In : Human mutation. 15, 1, p. 57-61 5 p.

Research output: Contribution to journalArticle

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter

Braverman, N., Steel, G., Lin, P., Moser, A., Moser, H. & Valle, D., Jan 15 2000, In : Genomics. 63, 2, p. 181-192 12 p.

Research output: Contribution to journalArticle

1999

Harland Sanders Award Statement.

Valle, D., Jan 1 1999, In : Genetics in medicine : official journal of the American College of Medical Genetics. 1, 5, p. 219-223 5 p.

Research output: Contribution to journalArticle

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Camacho, J. A., Obie, C., Biery, B., Goodman, B. K., Hu, C. A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G. A. & Valle, D., Jun 1999, In : Nature genetics. 22, 2, p. 151-158 8 p.

Research output: Contribution to journalArticle

Mutations in the gene encoding 3β-hydroxysteroid-Δ87-isomerase cause X-linked dominant Conradi-Hunermann syndrome

Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., Kelley, R. I. & Valle, D., Jul 1 1999, In : Nature genetics. 22, 3, p. 291-294 4 p.

Research output: Contribution to journalArticle

PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segments

Xu, S., Ladak, R., Swanson, D. A., Soltyk, A., Sun, H., Ploder, L., Vidgen, D., Duncan, A. M. V., Garami, E., Valle, D. & McInnes, R. R., Dec 10 1999, In : Journal of Biological Chemistry. 274, 50, p. 35676-35685 10 p.

Research output: Contribution to journalArticle

1998

An isoform of Pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes

Braverman, N., Dodt, G., Gould, S. J. & Valle, D., Aug 1 1998, In : Human molecular genetics. 7, 8, p. 1195-1205 11 p.

Research output: Contribution to journalArticle

Expression of PEX11β mediates peroxisome proliferation in the absence of extracellular stimuli

Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A. & Gould, S. J., Nov 6 1998, In : Journal of Biological Chemistry. 273, 45, p. 29607-29614 8 p.

Research output: Contribution to journalArticle

Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1)

Gärtner, J., Jimenez-Sanchez, G., Roerig, P. & Valle, D., Mar 1 1998, In : Genomics. 48, 2, p. 203-208 6 p.

Research output: Contribution to journalArticle

Gyrate atrophy of the choroid and retina: Lymphocyte ornithine-δ- aminotransferase activity in different mutations and carriers

Heinänen, K., Näntö-Salonen, K., Leino, L., Pulkki, K., Heinonen, O., Valle, D. & Simell, O., Sep 1998, In : Pediatric research. 44, 3, p. 381-385 5 p.

Research output: Contribution to journalArticle

Open Access

Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release

Swanson, D. A., Steel, J. M. & Valle, D., Mar 15 1998, In : Genomics. 48, 3, p. 373-376 4 p.

Research output: Contribution to journalArticle

Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders

Warren, D. S., Morrell, J. C., Moser, H. W., Valle, D. & Gould, S. J., Aug 1998, In : American journal of human genetics. 63, 2, p. 347-359 13 p.

Research output: Contribution to journalArticle

Mammalian orthologs of C. elegans unc-119 Highly expressed in photoreceptors

Swanson, D. A., Chang, J. T., Campochiaro, P. A., Zack, D. J. & Valle, D., Oct 1 1998, In : Investigative Ophthalmology and Visual Science. 39, 11, p. 2085-2094 10 p.

Research output: Contribution to journalArticle

Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency

Ameratunga, R., Winkelstein, J. A., Brody, L., Binns, M., Cork, L. C., Colombani, P. & Valle, D., Mar 15 1998, In : Journal of Immunology. 160, 6, p. 2824-2830 7 p.

Research output: Contribution to journalArticle

Mutations in the Δ1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

Geraghty, M. T., Vaughn, D., Nicholson, A. J., Lin, W. W., Jimenez-Sanchez, G., Obie, C., Flynn, M. P., Valle, D. & Hu, C. A. A., Sep 1 1998, In : Human molecular genetics. 7, 9, p. 1411-1415 5 p.

Research output: Contribution to journalArticle

Peroxisomal ABC transporters

Shani, N. & Valle, D., Jan 1 1998, In : Methods in enzymology. 292, p. 753-776 24 p.

Research output: Contribution to journalArticle

Recommendations for a nomenclature system for human gene mutations

Antonarakis, S. E., Ashburner, M., Auerbach, A. D., Beaudet, A. L., Beckmann, J. S., Beutler, E., Cooper, D. N., Cotton, R. G. H., Den Dunnen, J. T., Desnick, R. J., Eng, C., Fasman, K. H., Goldman, D., Hayashi, K., Hutchinson, F., Kazazian, H. H., Keen, J., King, M. C., Lehvaslaiho, H., McAlpine, P. J. & 11 others, McKusick, V., Motulski, A. G., Povey, S., Schorderet, D. F., Scriver, C. R., Shows, T. B., Supertifurga, A., Tay, A. H. N., Tsui, L. C., Valle, D. & Vihinen, M., Jan 1 1998, In : Human mutation. 11, 1, p. 1-3 3 p.

Research output: Contribution to journalArticle

Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70

Gärtner, J., Brosius, U., Obie, C., Watkins, P. A. & Valle, D., Jan 1 1998, In : European journal of cell biology. 76, 4, p. 237-245 9 p.

Research output: Contribution to journalArticle

Δ3,52,4-dienoyl-CoA isomerase from rat liver. Molecular characterization

Filppula, S. A., Yagi, A. I., Kilpeläinen, S. H., Novikov, D., FitzPatrick, D. R., Vihinen, M., Valle, D. & Hiltunen, J. K., Jan 2 1998, In : Journal of Biological Chemistry. 273, 1, p. 349-355 7 p.

Research output: Contribution to journalArticle

1997

A differential hybridization scheme to identify photoreceptor-specific genes

Swanson, D. A., Freund, C. L., Steel, J. M., Xu, S., Ploder, L., McInnes, R. R. & Valle, D., May 1997, In : Genome research. 7, 5, p. 513-521 9 p.

Research output: Contribution to journalArticle

Open Access

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Braverman, N., Steel, G., Obie, C., Moser, A., Moser, H., Gould, S. J. & Valle, D., Apr 1 1997, In : Nature genetics. 15, 4, p. 369-376 8 p.

Research output: Contribution to journalArticle

Identification of a fourth half ABC transporter in the human peroxisomal membrane

Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M. & Valle, D., Oct 1 1997, In : Human molecular genetics. 6, 11, p. 1925-1931 7 p.

Research output: Contribution to journalArticle

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

Chang, C. C., Lee, W. H., Moser, H., Valle, D. & Gould, S. J., Apr 1 1997, In : Nature genetics. 15, 4, p. 385-388 4 p.

Research output: Contribution to journalArticle

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

Reuber, B. E., Germain-Lee, E., Collins, C. S., Morrell, J. C., Ameritunga, R., Moser, H. W., Valle, D. & Gould, S. J., Jan 1 1997, In : Nature genetics. 17, 4, p. 445-448 4 p.

Research output: Contribution to journalArticle

NVL: A new member of the AAA family of ATPases localized to the nucleus

Germain-Lee, E. L., Obie, C. & Valle, D., Aug 15 1997, In : Genomics. 44, 1, p. 22-34 13 p.

Research output: Contribution to journalArticle

1996

A mouse model of gyrate atrophy of the choroid and retina: Early retinal pigment epithelium damage and progressive retinal degeneration

Wang, T., Milam, A. H., Steel, G. & Valle, D., Jun 15 1996, In : Journal of Clinical Investigation. 97, 12, p. 2753-2762 10 p.

Research output: Contribution to journalArticle

Open Access

A new complementation assay for peroxisome-deficient cell lines

FitzPatrick, D. R. & Valle, D., Mar 27 1996, In : Journal of Inherited Metabolic Disease. 19, 1, p. 94-95 2 p.

Research output: Contribution to journalArticle

Association of thyroid disease with retinitis pigmentosa and gyrate atrophy

Whitcup, S. M., Iwata, F., Podgor, M. J., Valle, D., Sran, P. K. & Kaiser-Kupfer, M. I., Jan 1 1996, In : American journal of ophthalmology. 122, 6, p. 903-905 3 p.

Research output: Contribution to journalArticle

A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: Implications for X-linked retinal disorders

Swanson, D. A., Freund, C. L., Ploder, L., McInnes, R. R. & Valle, D., Apr 1 1996, In : Human molecular genetics. 5, 4, p. 533-538 6 p.

Research output: Contribution to journalArticle

Characterization and analysis of conserved motifs in a peroxisomal ATP-binding cassette transporter

Shani, N., Sapag, A. & Valle, D., Apr 12 1996, In : Journal of Biological Chemistry. 271, 15, p. 8725-8730 6 p.

Research output: Contribution to journalArticle

Open Access

Characterization of a cDNA library enriched for a novel peroxisomal gene

Fitzpatrick, D. R., Jimenez-Sanchez, G., Germain-Lee, E. & Valle, D., 1996, In : Annals of the New York Academy of Sciences. 804, p. 739-741 3 p.

Research output: Contribution to journalArticle

Cloning, characterization, and expression of cDNAs encoding human Δ1-Pyrroline-5-carboxylate dehydrogenase

Hu, C. A. A., Lin, W. W. & Valle, D., Apr 19 1996, In : Journal of Biological Chemistry. 271, 16, p. 9795-9800 6 p.

Research output: Contribution to journalArticle

Open Access

From expressed sequence tags to peroxisome biogenesis disorder genes

Dodt, G., Braverman, N., Valle, D. & Gould, S. J., Jan 1 1996, In : Annals of the New York Academy of Sciences. 804, p. 516-523 8 p.

Research output: Contribution to journalArticle

Production and characterization of a mouse model of gyrate atrophy of the choroid and retina

Wang, T., Milam, A. H., Lawler, A., Steel, G. & Valle, D., Feb 15 1996, In : Investigative Ophthalmology and Visual Science. 37, 3, p. S1044

Research output: Contribution to journalArticle

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

Yahraus, T., Braverman, N., Dodt, G., Kalish, J. E., Morrell, J. C., Moser, H. W., Valle, D. & Gould, S. J., 1996, In : EMBO Journal. 15, 12, p. 2914-2923 10 p.

Research output: Contribution to journalArticle

1995

Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase

FitzPatrick, D. R., Germain-Lee, E. & Valle, D., Jun 10 1995, In : Genomics. 27, 3, p. 457-466 10 p.

Research output: Contribution to journalArticle

Mice lacking ornithine–δ–amino–transferase have paradoxical neonatal hypoornithinaemia and retinal degeneration

Wang, T., Lawler, A. M., Steel, G., Sipila, I., Milam, A. H. & Valle, D., Oct 1995, In : Nature genetics. 11, 2, p. 185-190 6 p.

Research output: Contribution to journalArticle

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

Dodt, G., Braverman, N., Wong, C., Moser, A., Moser, H. W., Watkins, P., Valle, D. & Gould, S. J., Feb 1995, In : Nature genetics. 9, 2, p. 115-125 11 p.

Research output: Contribution to journalArticle

Pyridoxine-responsive gyrate atrophy of the choroid and retina: Clinical and biochemical correlates of the mutation A226V

Michaud, J., Thompson, G. N., Brody, L. C., Steel, G., Obie, C., Fontaine, G., Schappert, K., Keith, C. G., Valle, D. & Mitchell, G. A., Jan 1 1995, In : American journal of human genetics. 56, 3, p. 616-622 7 p.

Research output: Contribution to journalArticle

1994

Hemolytically inactive C4B complement allotype caused by a proline to leucine mutation in the C5-binding site

McLean, R. H., Niblack, G., Julian, B., Wang, T., Wyatt, R., Phillips, J. A., Collins, T. S., Winkelstein, J. & Valle, D., Nov 4 1994, In : Journal of Biological Chemistry. 269, 44, p. 27727-27731 5 p.

Research output: Contribution to journalArticle

Transcriptional regulation of the gene for the second component of human complement: Promoter analysis

Sullivan, K. E., Valle, D., Winkelstein, J. A., Wu, LC. C. & Campbell, R. D., Feb 1994, In : European Journal of Immunology. 24, 2, p. 393-400 8 p.

Research output: Contribution to journalArticle

1993

Expression and processing of human ornithine-δ-aminotransferase in Saccharomyces cerevisiae

Dougherty, K. M., Swanson, D. A., Brody, L. C. & Valle, D., Nov 1 1993, In : Human molecular genetics. 2, 11, p. 1835-1840 6 p.

Research output: Contribution to journalArticle

Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma‐specific t(X;18)(p11.2;q11.2) breakpoint

De Leeuw, B., Berger, W., Sinke, R. J., Suijkerbuijk, R. F., Gilgenkrantz, S., Geraghty, M. T., Valle, D., Monaco, A. P., Lehrach, H., Ropers, H. H. & Van Kessel, A. G., Mar 1993, In : Genes, Chromosomes and Cancer. 6, 3, p. 182-189 8 p.

Research output: Contribution to journalArticle

Isolation and characterization of an ornithine aminotransferase-related sequence (oatl3) mapping to 10q26

Geraghty, M. T., Kearns, W. G., Pearson, P. L. & Valle, D., Aug 1993, In : Genomics. 17, 2, p. 510-513 4 p.

Research output: Contribution to journalArticle