David Valle

Professor

1971 …2020

Research output per year

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Research Output

1998

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., 1998, In : European Journal of Cell Biology. 76, 4, p. 237-245 9 p.

Research output: Contribution to journalArticle

Δ3,5-Δ2,4-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

Erratum: (Mammalian Genome (1996) 7:9 (2465-2494))

Mullis, K. G., Neufeld, E. F., Muenzer, J., Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D., 1997, In : Mammalian Genome. 8, 2, p. 161 1 p.

Research output: Contribution to journalArticle

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

Braverman, N., Steel, G., Obie, C., Moser, A. B., Moser, H., Gould, S. J. & Valle, D., Apr 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 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 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., 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

A new complementation assay for peroxisome-deficient cell lines

FitzPatrick, D. R. & Valle, D., 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., 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 1996, In : Human Molecular Genetics. 5, 4, p. 533-538 6 p.

Research output: Contribution to journalArticle

A unified nomenclature for peroxisome biogenesis factors

Distel, B., Erdmann, R., Gould, S. J., Blobel, G., Crane, D. I., Cregg, J. M., Dodt, G., Fujiki, Y., Goodman, J. M., Just, W. W., Kiel, J. A. K. W., Kunau, W. H., Lazarow, P. B., Mannaerts, G. P., Moser, H. W., Osumi, T., Rachubinski, R. A., Roscher, A., Subramani, S., Tabak, H. F. & 5 others, Tsukamoto, T., Valle, D., Van Der Klei, I., Van Veldhoven, P. P. & Veenhuis, M., Oct 1996, In : Journal of Cell Biology. 135, 1, p. 1-3 3 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

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

From expressed sequence tags to peroxisome biogenesis disorder genes

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

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 : The EMBO journal. 15, 12, p. 2914-2923 10 p.

Research output: Contribution to journalArticle

The yeast genome - A common currency

Hieter, P., Bassett D.E., J. & Valle, D., 1996, In : Nature Genetics. 13, 3, p. 253-255 3 p.

Research output: Contribution to journalArticle

1995

Disorders of peroxisome biogenesis

Braverman, N., Dodt, G., Gould, S. J. & Valle, D., 1995, In : Human Molecular Genetics. 4, REV. ISS., p. 1791-1798 8 p.

Research output: Contribution to journalArticle

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-aminotransferase 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. B., Moser, H. W., Watkins, P. A., Valle, D. & Gould, S. J., 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., 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

Hyperornitinemia ja silmänpohjan pyörörappeuma: suomalaisen taudin taustalla ornitiiniaminotransferaasin geenivirhe.

Translated title of the contribution: Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish diseaseSipilä, I., Valle, D., Mitchell, G. A. & Brody, L. C., 1994, In : Duodecim. 110, 7, p. 681-686 6 p.

Research output: Contribution to journalArticle

Therapy for β-thalassemia - A paradigm for the treatment of genetic disorders

Dover, G. J. & Valle, D., 1994, In : New England Journal of Medicine. 331, 9, p. 609-610 2 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., Campbell, R. D., Valle, D. & Winkelstein, J. A., 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 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., 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

Localization of the 70-kDa Peroxisomal Membrane Protein to Human 1p21-p22 and Mouse 3

Gärtner, J., Kearns, W., Rosenberg, C., Pearson, P., Copeland, N. G., Gilbert, D. J., Jenkins, N. A. & Valle, D., Feb 1993, In : Genomics. 15, 2, p. 412-414 3 p.

Research output: Contribution to journalArticle

Penetrating the peroxisome

Valle, D. & Gärtner, J., 1993, In : Nature. 361, 6414, p. 682-683 2 p.

Research output: Contribution to journalArticle

Reply

Hamosh, A., Valle, D. & Johnston, M. V., 1993, In : Journal of Pediatrics. 122, 2, p. 325 1 p.

Research output: Contribution to journalLetter

The Isolation of cDNAs from OATL1 at Xp11.2 Using a 480-kb YAC

Geraghty, M. T., Brody, L. C., Martin, L. S., Marble, M., Kearns, W., Pearson, P., Monaco, A. P., Lehrach, H. & Valle, D., May 1993, In : Genomics. 16, 2, p. 440-446 7 p.

Research output: Contribution to journalArticle

The skipping of constitutive exons in vivo induced by nonsense mutations

Dietz, H. C., Valle, D., Francomano, C. A., Kendzior, R. J., Pyeritz, R. E. & Cutting, G. R., Jan 29 1993, In : Science. 259, 5095, p. 680-683 4 p.

Research output: Contribution to journalArticle

1992

Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI

Hayflick, S., Rowe, S., Kavanaugh-McHugh, A., Olson, J. L. & Valle, D., 1992, In : Journal of Pediatrics. 120, 2 PART 1, p. 269-272 4 p.

Research output: Contribution to journalArticle

A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)

Gärtner, J., Obie, C., Moser, H. & Valle, D., Nov 1992, In : Human Molecular Genetics. 1, 8, p. 654 1 p.

Research output: Contribution to journalArticle

Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae

Dougherty, K. M., Brandriss, M. C. & Valle, D., Jan 15 1992, In : Journal of Biological Chemistry. 267, 2, p. 871-875 5 p.

Research output: Contribution to journalArticle

Cobalamin C defect associated with hemolytic-uremic syndrome

Geraghty, M. T., Perlman, E. J., Martin, L. S., Hayflick, S. J., Casella, J. F., Rosenblatt, D. S. & Valle, D., 1992, In : Journal of Pediatrics. 120, 6, p. 934-937 4 p.

Research output: Contribution to journalArticle

Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant

Hamosh, A., McDonald, J. W., Valle, D., Francomano, C. A., Niedermeyer, E. & Johnston, M. V., 1992, In : Journal of Pediatrics. 121, 1, p. 131-135 5 p.

Research output: Contribution to journalArticle

Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome: Neurologic, ophthalmologic, and neuropsychologic examination of six patients

Lemay, J. F., Lambert, M. A., Mitchell, G. A., Vanasse, M., Valle, D., Arbour, J. F., Dubé, J., Flessas, J., Laberge, M., Lafleur, L., Orquin, J., Qureshi, I. A. & Dery, R., 1992, In : Journal of Pediatrics. 121, 5 PART 1, p. 725-730 6 p.

Research output: Contribution to journalArticle