David Valle

Professor

1971 …2019
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Research Output 1971 2019

2005

Functional consequences of PRODH missense mutations

Bender, H. U., Almashanu, S., Steel, G., Hu, C. A., Lin, W. W., Willis, A., Pulver, A. E. & Valle, D., Mar 2005, In : American Journal of Human Genetics. 76, 3, p. 409-420 12 p.

Research output: Contribution to journalArticle

Proline Oxidase
Missense Mutation
Alleles
DiGeorge Syndrome
Schizophrenia

Δ1-pyrroline-5-carboxylate synthase deficiency: Neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

Baumgartner, M. R., Rabier, D., Nassogne, M. C., Dufier, J. L., Padovani, J. P., Kamoun, P., Valle, D. & Saudubray, J. M., Jan 2005, In : European Journal of Pediatrics. 164, 1, p. 31-36 6 p.

Research output: Contribution to journalArticle

Ornithine-Oxo-Acid Transaminase
Hyperammonemia
Citrulline
Ornithine
Proline
2004

Genetics, Individually, and Medicine in the 21st Century

Valle, D., Mar 2004, In : American Journal of Human Genetics. 74, 3, p. 374-381 8 p.

Research output: Contribution to journalArticle

21st Century History
20th Century History
Genetic Epigenesis
Medical Genetics
Alternative Splicing

Genomewide linkage scan for bipolar-disorder susceptibility loci among Ashkenazi Jewish families

Fallin, D. D., Lasseter, V. K., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D., Liang, K. Y. & Pulver, A. E., Aug 2004, In : American Journal of Human Genetics. 75, 2, p. 204-219 16 p.

Research output: Contribution to journalArticle

Bipolar Disorder
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 1
Pedigree
Schizophrenia

Integrating ethics and science in the International HapMap Project

Foster, M. W., Clayton, E. W., Knoppers, B. M., Qiu, R., Kent, A., Dunston, G. M., Kato, K., Niikawa, N., Adewole, I. F., Watkin, J., Zhang, H., Zeng, C., Matsuda, I., Fukushima, Y., Macer, D. R., Suda, E., Rotimi, C. N., Adebamowo, C. A., Aniagwu, T., Marshall, P. A. & 124 others, Matthew, O., Nkwodimmah, C., Royal, C. D. M., Leppert, M. F., Dixon, M., Valle, D., Jorde, L. B., Belmont, J. W., Chakravarti, A., Cho, M. K., Duster, T., Jasperse, M., Kwok, P. Y., Licinio, J., Long, J. C., Ossorio, P. N., Wang, V. O., Spallone, P., Terry, S. F., Gibbs, R. A., Hardenbol, P., Willis, T. D., Yu, F., Altshuler, D., Gabriel, S. B., Yang, H., Ch'ang, L. Y., Huang, W., Liu, B., Shen, Y., Tam, P. K. H., Tsui, L. C., Waye, M. M. Y., Wong, J. T. F., Zhang, Q., Chee, M. S., Galver, L. M., Kruglyak, S., Murray, S. S., Oliphant, A. R., Montpetit, A., Hudson, T. J., Chagnon, F., Ferretti, V., Leboeuf, M., Phillips, M. S., Verner, A., Duan, S., Lind, D. L., Miller, R. D., Rice, J. P., Saccone, N. L., Taillon-Miller, P., Xiao, M., Nakamura, Y., Sekine, A., Sorimachi, K., Tanaka, T., Tanaka, Y., Tsunoda, T., Yoshino, E., Bentley, D. R., Deloukas, P., Powell, D., Daly, M. J., Schaffner, S. F., Stein, L. D., Cunningham, F., Kanani, A., Thorisson, G. A., Chen, P. E., Cutler, D. J., Kashuk, C. S., Lin, S., Donnelly, P., Marchini, J., McVean, G. A. T., Myers, S. R., Cardon, L. R., Abecasis, G. R., Morris, A., Weir, B. S., Mullikin, J. C., Sherry, S. T., Feolo, M., Sodergren, E., Weinstock, G. M., Birren, B. W., Wilson, R. K., Fulton, L. L., Rogers, J., Han, H., Wang, H., Godbout, M., Wallenburg, J. C., L'Archevêque, P., Bellemare, G., Todani, K., Fujita, T., Tanaka, S., Holden, A. L., Lai, E. H., Collins, F. S., McEwen, J. E., Brooks, L. D., Guyer, M. S., Jordan, E., Peterson, J. L., Spiegel, J., Sung, L. M., Zacharia, L. F., Kennedy, K., Dunn, M. G., Seabrook, R., Shillito, M., Skene, B., Stewart, J. G., Lander, E. S., Nickerson, D. A., Boehnke, M., Douglas, J. A., Hudson, R. R., Kruglyak, L. & Nussbaum, R. L., Jun 1 2004, In : Nature Reviews Genetics. 5, 6, p. 467-475 9 p.

Research output: Contribution to journalReview article

HapMap Project
Ethics
Genomics
Population
Genetic Research

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: Evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

Baumgartner, M. R., Dantas, M. F., Suormala, T., Almashanu, S., Giunta, C., Friebel, D., Gebhardt, B., Fowler, B., Hoffmann, G. F., Baumgartner, E. R. & Valle, D., Nov 2004, In : American Journal of Human Genetics. 75, 5, p. 790-800 11 p.

Research output: Contribution to journalArticle

Biotin
Alleles
Therapeutics
Phenotype
Seizures

PHR1, a PH domain-containing protein expressed in primary sensory neurons

Xu, S., Wang, Y., Zhao, H., Zhang, L., Xiong, W., Yau, K-W., Hiel, H., Glowatzki, E. B., Ryugo, D. K. & Valle, D., Oct 2004, In : Molecular and Cellular Biology. 24, 20, p. 9137-9151 15 p.

Research output: Contribution to journalArticle

Sensory Receptor Cells
Auditory Hair Cells
Vestibular Hair Cells
Galactosidases
Olfactory Receptor Neurons

Replication study supports evidence for linkage to 9p24 in obsessive-compulsive disorder

Willour, V. L., Shugart, Y. Y., Samuels, J., Grados, M., Cullen, B., Bienvenu, O. J., Wang, Y., Liang, K. Y., Valle, D., Hoehn-Saric, R., Riddle, M. & Nestadt, G., Sep 2004, In : American Journal of Human Genetics. 75, 3, p. 508-513 6 p.

Research output: Contribution to journalArticle

Obsessive-Compulsive Disorder
Phenotype
Diagnostic and Statistical Manual of Mental Disorders
Obsessive Behavior
Twin Studies

Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy

Kaiser-Kupfer, M. I., Caruso, R. C., Valle, D. & Reed, G. F., Jul 2004, In : Archives of Ophthalmology. 122, 7, p. 982-984 3 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Arginine
Diet
Visual Field Tests
Ornithine
2003

Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22

Fallin, D. D., Lasseter, V. K., Wolyniec, P. S., McGrath, J. A., Nestadt, G., Valle, D., Liang, K. Y. & Pulver, A. E., Sep 1 2003, In : American Journal of Human Genetics. 73, 3, p. 601-611 11 p.

Research output: Contribution to journalArticle

Schizophrenia
Chromosomes
Genetic Heterogeneity
Genetic Markers
Population

Peroxisome Biogenesis Disorders

Weller, S., Gould, S. J. & Valle, D., 2003, In : Annual Review of Genomics and Human Genetics. 4, p. 165-211 47 p.

Research output: Contribution to journalArticle

Genes
Availability
Phenotype
Peroxisomes
Homeostasis

Planning the Genome Institute's future [1] (multiple letters)

Uhlmann, W. R., Bennett, R., Botkin, J. R., Botstein, D., Boughman, J. A., Chakravarti, A., Clayton, E. W., Kahn, J., Koenig, B., Murray, T. H., Olson, M. V., Rowley, J., Terry, S., Valle, D. & Pennisi, E., Mar 7 2003, In : Science. 299, 5612, p. 1515 1 p.

Research output: Contribution to journalArticle

Human Genome Project
Genetic Research
National Institutes of Health (U.S.)
Human Genome
Genomics

The international HapMap project

Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Yang, H., Ch'Ang, L. Y., Huang, W., Liu, B., Shen, Y., Tam, P. K. H., Tsui, L. C., Waye, M. M. Y., Wong, J. T. F., Zeng, C., Zhang, Q., Chee, M. S., Galver, L. M., Kruglyak, S., Murray, S. S., Oliphant, A. R. & 124 others, Montpetit, A., Chagnon, F., Ferretti, V., Leboeuf, M., Phillips, M. S., Verner, A., Duan, S., Lind, D. L., Miller, R. D., Rice, J., Saccone, N. L., Taillon-Miller, P., Xiao, M., Sekine, A., Sorimachi, K., Tanaka, Y., Tsunoda, T., Yoshino, E., Bentley, D. R., Hunt, S., Powell, D., Zhang, H., Matsuda, I., Fukushima, Y., Macer, D. R., Suda, E., Rotimi, C., Adebamowo, C. A., Aniagwu, T., Marshall, P. A., Matthew, O., Nkwodimmah, C., Royal, C. D. M., Leppert, M. F., Dixon, M., Cunningham, F., Kanani, A., Thorisson, G. A., Chen, P. E., Cutler, D. J., Kashuk, C. S., Donnelly, P., Marchini, J., McVean, G. A. T., Myers, S. R., Cardon, L. R., Morris, A., Weir, B. S., Mullikin, J. C., Feolo, M., Daly, M. J., Qiu, R., Kent, A., Dunston, G. M., Kato, K., Niikawa, N., Watkin, J., Gibbs, R. A., Sodergren, E., Weinstock, G. M., Wilson, R. K., Fulton, L. L., Rogers, J., Birren, B. W., Han, H., Wang, H., Godbout, M., Wallenburg, J. C., L'Archevêque, P., Bellemare, G., Todani, K., Fujita, T., Tanaka, S., Holden, A. L., Collins, F. S., Brooks, L. D., McEwen, J. E., Guyer, M. S., Jordan, E., Peterson, J. L., Spiegel, J., Sung, L. M., Zacharia, L. F., Kennedy, K., Dunn, M. G., Seabrook, R., Shillito, M., Skene, B., Stewart, J. G., Valle, D., Clayton, E. W., Jorde, L. B., Chakravarti, A., Cho, M. K., Duster, T., Foster, M. W., Jasperse, M., Knoppers, B. M., Kwok, P. Y., Licinio, J., Long, J. C., Ossorio, P., Wang, V. O., Rotimi, C. N., Spallone, P., Terry, S. F., Lander, E. S., Lai, E. H., Nickerson, D. A., Abecasis, G. R., Altshuler, D., Boehnke, M., Deloukas, P., Douglas, J. A., Gabriel, S. B., Hudson, R. R., Hudson, T. J., Kruglyak, L., Nakamura, Y., Nussbaum, R. L., Schaffner, S. F., Sherry, S. T., Stein, L. D. & Tanaka, T., Dec 18 2003, In : Nature. 426, 6968, p. 789-796 8 p.

Research output: Contribution to journalArticle

HapMap Project
Public Sector
Human Genome
Genotype
Genome
2002

2001 ASHG Award for Excellence in Education. Introductory speech for Charles Scriver.

Valle, D., Feb 2002, In : American Journal of Human Genetics. 70, 2, p. 314-316 3 p.

Research output: Contribution to journalArticle

20th Century History
Tay-Sachs Disease
Inborn Errors Metabolism
Thalassemia
Medical Genetics

Gyrate atrophy of the choroid and retina: Further experience with long-term reduction of ornithine levels in children

Kaiser-Kupfer, M. I., Caruso, R. C. & Valle, D., 2002, In : Archives of Ophthalmology. 120, 2, p. 146-153 8 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Ornithine
Siblings
Diet
Arginine

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A. B., Moser, H. & Valle, D., 2002, In : Human Mutation. 20, 4, p. 284-297 14 p.

Research output: Contribution to journalArticle

Rhizomelic Chondrodysplasia Punctata
Genetic Association Studies
Mutation
Peroxisomes
Alleles

Onlined Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Hamosh, A., Scott, A. F., Amberger, J., Bocchini, C., Valle, D. & McKusick, V. A., Jan 1 2002, In : Nucleic Acids Research. 30, 1, p. 52-55 4 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Knowledge Bases
Medical Genetics
Genetic Databases
Genes

PEX11α is required for peroxisome proliferation in response to 4-phenylbutyrate but is dispensable for peroxisome proliferator-activated receptor alpha-mediated peroxisome proliferation

Li, X., Baumgart, E., Dong, G. X., Morrell, J. C., Jimenez-Sanchez, G., Valle, D., Smith, K. D. & Gould, S. J., Dec 2002, In : Molecular and Cellular Biology. 22, 23, p. 8226-8240 15 p.

Research output: Contribution to journalArticle

PPAR alpha
Peroxisomes
4-phenylbutyric acid
Genes
Eukaryota

PEX11β deficiency is lethal and impairs neuronal migration but does not abrogate peroxisome function

Li, X., Baumgart, E., Morrell, J. C., Jimenez-Sanchez, G., Valle, D. & Gould, S. J., 2002, In : Molecular and Cellular Biology. 22, 12, p. 4358-4365 8 p.

Research output: Contribution to journalArticle

Zellweger Syndrome
Peroxisomes
Muscle Hypotonia
Phenotype
Nervous System Diseases
2001

Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement

Caruso, R. C., Nussenblatt, R. B., Csaky, K. G., Valle, D. & Kaiser-Kupfer, M. I., 2001, In : Archives of Ophthalmology. 119, 5, p. 667-669 3 p.

Research output: Contribution to journalArticle

Gyrate Atrophy
Visual Field Tests
Visual Fields
Clinical Trials
Genetic Therapy

Cervical stenosis secondary to rhizomelic chondrodysplasia punctata

Khanna, A. J., Braverman, N. E., Valle, D. & Sponseller, P. D., Feb 15 2001, In : American Journal of Medical Genetics. 99, 1, p. 63-66 4 p.

Research output: Contribution to journalArticle

Rhizomelic Chondrodysplasia Punctata
Pathologic Constriction
Peroxisomal Disorders
Rare Diseases
Spine

Human disease genes

Jimenez-Sanchez, G., Childs, B. & Valle, D., Feb 15 2001, In : Nature. 409, 6822, p. 853-855 3 p.

Research output: Contribution to journalArticle

Genes
Human Genome
Age of Onset
Medicine

Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species

Donald, S. P., Sun, X. Y., Hu, C. A. A., Yu, J., Mei, J. M., Valle, D. & Phang, J. M., Mar 1 2001, In : Cancer Research. 61, 5, p. 1810-1815 6 p.

Research output: Contribution to journalArticle

Proline Oxidase
p53 Genes
Proline
Reactive Oxygen Species
Apoptosis

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Baumgartner, M. R., Almashanu, S., Suormala, T., Obie, C., Cole, R. N., Packman, S., Baumgartner, E. R. & Valle, D., 2001, In : Journal of Clinical Investigation. 107, 4, p. 495-504 10 p.

Research output: Contribution to journalArticle

methylcrotonoyl-CoA carboxylase
Biotin
Neonatal Screening
Missense Mutation
Tandem Mass Spectrometry
2000
Gyrate Atrophy
Retinal Degeneration
Ornithine
Arginine
Ornithine-Oxo-Acid Transaminase

Genetics, biology and disease

Childs, B. & Valle, D., 2000, In : Annual Review of Genomics and Human Genetics. 1, 2000, p. 1-19 19 p.

Research output: Contribution to journalArticle

Human Genome Project
Inborn Genetic Diseases
Preventive Medicine
Medical Genetics
Genomics

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

Ornithine-Oxo-Acid Transaminase
Hyperammonemia
Citrulline
Ornithine
Proline

Online Mendelian Inheritance in Man (OMIM)

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

Research output: Contribution to journalArticle

Genetic Databases
Medical Genetics
PubMed
Bibliographic Databases
Genes

Peroxisome biogenesis disorders: Genetics and cell biology

Gould, S. J. & Valle, D., Aug 1 2000, In : Trends in Genetics. 16, 8, p. 340-345 6 p.

Research output: Contribution to journalArticle

Cell Biology
Infantile Refsum's Disease
Rhizomelic Chondrodysplasia Punctata
Zellweger Syndrome
Peroxisomal Disorders

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. B., Moser, H. & Valle, D., Jan 15 2000, In : Genomics. 63, 2, p. 181-192 12 p.

Research output: Contribution to journalArticle

Rhizomelic Chondrodysplasia Punctata
Haplotypes
Alleles
Genes
Exons
1999

40 years of the annual 'Bar Harbor Course' (1960-1999): A pictorial history

McKusick, V. A., Naggert, J., Nishina, P. & Valle, D., 1999, In : Clinical Genetics. 55, 6, p. 398-415 18 p.

Research output: Contribution to journalArticle

20th Century History
Medical Genetics
Curriculum
History

Harland Sanders Award Statement.

Valle, D., Jul 1999, In : Genetics in Medicine. 1, 5, p. 219-223 5 p.

Research output: Contribution to journalArticle

20th Century History
Medical Societies
Medical Genetics

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., 1999, In : Nature Genetics. 22, 2, p. 151-158 8 p.

Research output: Contribution to journalArticle

Mutation
Ornithine
Genes
Urea
Neurospora crassa
Ornithine-Oxo-Acid Transaminase
Ornithine
Protein Isoforms
Complementary DNA
Base Pairing

Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome

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

Research output: Contribution to journalArticle

Chondrodysplasia Punctata
Hydroxysteroids
Isomerases
Mutation
Genes

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

Exons
Membrane Proteins
Transducin
Light Signal Transduction
Amino Acids

What can we learn about age-related macular degeneration from other retinal diseases?

Zack, D. J., Dean, M., Molday, R. S., Nathans, J., Redmond, T. M., Stone, E. M., Swaroop, A., Valle, D. & Weber, B. H., Nov 3 1999, In : Molecular Vision. 5, p. 30 1 p.

Research output: Contribution to journalArticle

Retinal Diseases
Macular Degeneration
Vitelliform Macular Dystrophy
Peripherins
Epidemiologic Methods

You give me fever

Valle, D., 1999, In : Nature Genetics. 22, 2, p. 121-122 2 p.

Research output: Contribution to journalArticle

Fever
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 1998, In : Human Molecular Genetics. 7, 8, p. 1195-1205 11 p.

Research output: Contribution to journalArticle

Peroxisomes
Protein Isoforms
Transfection
Complementary DNA
Exons

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

Peroxisomes
Tissue
Membrane Proteins
Genes
Peroxisome Proliferators

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

Adrenoleukodystrophy
Membrane Proteins
ATP-Binding Cassette Transporters
Genes
5' Flanking Region

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

Gyrate Atrophy
Ornithine-Oxo-Acid Transaminase
Lymphocytes
Mutation
Heterozygote

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

Forensic Anthropology
Neurotransmitter Agents
Retina
Amino Acids
Proteins

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

Warren, D., 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

Genes
Peroxisomes
Proteins
Mutation
Yeasts

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 1998, In : Investigative Ophthalmology and Visual Science. 39, 11, p. 2085-2094 10 p.

Research output: Contribution to journalArticle

Introns
Genes
Retina
Complementary DNA
Exons

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

Complement C3
Canidae
Mutation
Sequence Analysis
Complementary DNA

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 1998, In : Human Molecular Genetics. 7, 9, p. 1411-1415 5 p.

Research output: Contribution to journalArticle

1-Pyrroline-5-Carboxylate Dehydrogenase
Alleles
Mutation
Genes
Polymerase Chain Reaction

Peroxisomal ABC transporters

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

Research output: Contribution to journalArticle

ATP-Binding Cassette Transporters

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

Terminology
Mutation
Genes

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

Peroxisomes
Zellweger Syndrome
Cricetulus
Ovary
Clone Cells