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David Valle
Researcher at Howard Hughes Medical Institute
Publications - 66
Citations - 6888
David Valle is an academic researcher from Howard Hughes Medical Institute. The author has contributed to research in topics: Ornithine & Complementary DNA. The author has an hindex of 38, co-authored 66 publications receiving 6552 citations. Previous affiliations of David Valle include Université de Montréal & Johns Hopkins University School of Medicine.
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Journal Article
human disease network
TL;DR: It is found that essential human genes are likely to encode hub proteins and are expressed widely in most tissues, suggesting that disease genes also would play a central role in the human interactome, and that diseases caused by somatic mutations should not be peripheral.
Journal Article
Proline oxidase, encoded by p53-induced gene-6, catalyzes the generation of proline-dependent reactive oxygen species.
TL;DR: It is hypothesized that proline oxidation supports the generation of ROS by donating reducing potential to an electron transport chain altered either by p53-dependent mechanisms or by overexpression of POX.
Journal ArticleDOI
Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome
Nancy Braverman,Paul Lin,Fabian F. Moebius,Cassandra Obie,Ann B. Moser,Hartmut Glossmann,William R. Wilcox,David L. Rimoin,Moyra Smith,Lisa E. Kratz,Richard I. Kelley,David Valle +11 more
TL;DR: In this article, a candidate gene encoding a sterol-delta-8-isomerase (EBP) has been identified and mapped to Xp11.22-p 11.23.
Journal ArticleDOI
Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport*
TL;DR: There is a distinct form of carnitine deficiency which presents as cardiomyopathy and may be successfully treated with L-carnitine, which is a likely cause of this patient's disorder.
Journal ArticleDOI
A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters
Noam Shani,David Valle +1 more
TL;DR: The genetic and physical data suggest that Pxa1p and Pxa2p heterodimerize to form a complete peroxisomal ABC transporter involved in fatty acid beta-oxidation.