Human Molecular Genetics

ARTICLES:

Mei Sun, Ehud Goldin, Stefanie Stahl, John L. Falardeau, John C. Kennedy, James S. Acierno, Jr, Catherine Bove, Christine R. Kaneski, James Nagle, Matthew C. Bromley, Matthew Colman, Raphael Schiffmann, and Susan A. Slaugenhaupt

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
Hum. Mol. Genet. 2000 9: 2471-2478; doi:10.1093/hmg/9.17.2471 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rudolf Götz, Christoph Karch, Matthew R. Digby, Jakob Troppmair, Ulf R. Rapp, and Michael Sendtner

The neuronal apoptosis inhibitory protein suppresses neuronal differentiation and apoptosis in PC12 cells
Hum. Mol. Genet. 2000 9: 2479-2489; doi:10.1093/hmg/9.17.2479 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gaël Yvert, Katrin S. Lindenberg, Serge Picaud, G. Bernhard Landwehrmeyer, José-Alain Sahel, and Jean-Louis Mandel

Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice
Hum. Mol. Genet. 2000 9: 2491-2506; doi:10.1093/hmg/9.17.2491 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

A. Ahmad, M. Brinson, B.L. Hodges, J.S. Chamberlain, and A. Amalfitano

Mdx mice inducibly expressing dystrophin provide insights into the potential of gene therapy for Duchenne muscular dystrophy
Hum. Mol. Genet. 2000 9: 2507-2515; doi:10.1093/hmg/9.17.2507 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Sandra Mammarella, Ferdinando Romano, Annalisa Di Valerio, Beatrice Creati, Diana L. Esposito, Raffaele Palmirotta, Fabio Capani, Paola Vitullo, Giustino Volpe, Pasquale Battista, Fulvio Della Loggia, Renato Mariani-Costantini, and Alessandro Cama

Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabetes
Hum. Mol. Genet. 2000 9: 2517-2521; doi:10.1093/hmg/9.17.2517 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrizia Cavadini, Cinzia Gellera, Pragna I. Patel, and Grazia Isaya

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae
Hum. Mol. Genet. 2000 9: 2523-2530; doi:10.1093/hmg/9.17.2523 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Niamh Flanagan, Eugene Healy, Amanda Ray, Sion Philips, Carole Todd, Ian J. Jackson, Mark A. Birch-Machin, and Jonathan L. Rees

Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation
Hum. Mol. Genet. 2000 9: 2531-2537; doi:10.1093/hmg/9.17.2531 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laura Kennedy and Peggy F. Shelbourne

Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington’s disease?
Hum. Mol. Genet. 2000 9: 2539-2544; doi:10.1093/hmg/9.17.2539 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Takis Athanasopoulos, James S. Owen, David Hassall, Matthew G. Dunckley, Jeffrey Drew, Joanne Goodman, Aristedes D. Tagalakis, David R. Riddell, and George Dickson

Intramuscular injection of a plasmid vector expressing human apolipoprotein E limits progression of xanthoma and aortic atheroma in apoE-deficient mice
Hum. Mol. Genet. 2000 9: 2545-2551; doi:10.1093/hmg/9.17.2545 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Timothy C. Cox, Lillian R. Allen, Liza L. Cox, Blair Hopwood, Bruce Goodwin, Eric Haan, and Graeme K. Suthers

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome
Hum. Mol. Genet. 2000 9: 2553-2562; doi:10.1093/hmg/9.17.2553 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christine Kamp, Peter Hirschmann, Hartmut Voss, Karin Huellen, and Peter H. Vogt

Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
Hum. Mol. Genet. 2000 9: 2563-2572; doi:10.1093/hmg/9.17.2563 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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