Human Molecular Genetics

ARTICLES:

Diego Prieto Roces, Renate Lüllmann-Rauch, Jianhe Peng, Chiara Balducci, Claes Andersson, Ole Tollersrud, Jens Fogh, Aldo Orlacchio, Tommaso Beccari, Paul Saftig, and Kurt von Figura

Efficacy of enzyme replacement therapy in -mannosidosis mice: a preclinical animal study
Human Molecular Genetics Advance Access published on July 21, 2004
Hum. Mol. Genet. 2004 13: 1979-1988; doi:10.1093/hmg/ddh220 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Joseph Krezowski, Danielle Knudson, Christine Ebeling, Rose Pitstick, Ranjit K. Giri, Dale Schenk, David Westaway, Linda Younkin, Steven G. Younkin, Karen Hsiao Ashe, and George A. Carlson

Identification of loci determining susceptibility to the lethal effects of amyloid precursor protein transgene overexpression
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 1989-1997; doi:10.1093/hmg/ddh210 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mengfatt Ho, Cristina M. Post, Leah R. Donahue, Hart G.W. Lidov, Roderick T. Bronson, Holly Goolsby, Simon C. Watkins, Gregory A. Cox, and Robert H. Brown, Jr

Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 1999-2010; doi:10.1093/hmg/ddh212 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Srimoyee Ghosh and Mel B. Feany

Comparison of pathways controlling toxicity in the eye and brain in Drosophila models of human neurodegenerative diseases
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 2011-2018; doi:10.1093/hmg/ddh214 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Young-Ho Koh, Kimberly Rehfeld, and Barry Ganetzky

A Drosophila model of early onset torsion dystonia suggests impairment in TGF-ß signaling
Human Molecular Genetics Advance Access published on July 21, 2004
Hum. Mol. Genet. 2004 13: 2019-2030; doi:10.1093/hmg/ddh208 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Katja Grohmann, Wilfried Rossoll, Igor Kobsar, Bettina Holtmann, Sibylle Jablonka, Carsten Wessig, Gisela Stoltenburg-Didinger, Utz Fischer, Christoph Hübner, Rudolf Martini, and Michael Sendtner

Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)
Human Molecular Genetics Advance Access published on July 21, 2004
Hum. Mol. Genet. 2004 13: 2031-2042; doi:10.1093/hmg/ddh222 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shelli N. Williams, Cody J. Locke, Andrea L. Braden, Kim A. Caldwell, and Guy A. Caldwell

Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 2043-2059; doi:10.1093/hmg/ddh209 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Michael S. Anglesio, Valentina Evdokimova, Nataliya Melnyk, Liyong Zhang, Conrad V. Fernandez, Paul E. Grundy, Stephen Leach, Marco A. Marra, Angela R. Brooks-Wilson, Josef Penninger, and Poul H.B. Sorensen

Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 2061-2074; doi:10.1093/hmg/ddh215 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Xi-Qin Ding, May Nour, Linda M. Ritter, Andrew F.X. Goldberg, Steven J. Fliesler, and Muna I. Naash

The R172W mutation in peripherin/rds causes a cone–rod dystrophy in transgenic mice
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 2075-2087; doi:10.1093/hmg/ddh211 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Aino Utriainen, Raija Sormunen, Mikko Kettunen, Lorenza S. Carvalhaes, Esko Sajanti, Lauri Eklund, Risto Kauppinen, Gregory T. Kitten, and Taina Pihlajaniemi

Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 2089-2099; doi:10.1093/hmg/ddh213 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Karin Roesch, Peter J. Hynds, Renee Varga, Lisbeth Tranebjaerg, and Carla M. Koehler

The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a–TIMM13 complex
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 2101-2111; doi:10.1093/hmg/ddh217 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kyle P. Chiang, Alexandra L. Gerber, Jack C. Sipe, and Benjamin F. Cravatt

Reduced cellular expression and activity of the P129T mutant of human fatty acid amide hydrolase: evidence for a link between defects in the endocannabinoid system and problem drug use
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 2113-2119; doi:10.1093/hmg/ddh216 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alessia Errico, Pamela Claudiani, Marilena D'Addio, and Elena I. Rugarli

Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon
Human Molecular Genetics Advance Access published on July 21, 2004
Hum. Mol. Genet. 2004 13: 2121-2132; doi:10.1093/hmg/ddh223 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Inés Ibañez-Tallon, Axel Pagenstecher, Manfred Fliegauf, Heike Olbrich, Andreas Kispert, Uwe-Peter Ketelsen, Alison North, Nathaniel Heintz, and Heymut Omran

Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation
Human Molecular Genetics Advance Access published on July 21, 2004
Hum. Mol. Genet. 2004 13: 2133-2141; doi:10.1093/hmg/ddh219 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Ronna Hertzano, Mireille Montcouquiol, Sharon Rashi-Elkeles, Rani Elkon, Raif Yücel, Wayne N. Frankel, Gideon Rechavi, Tarik Möröy, Thomas B. Friedman, Matthew W. Kelley, and Karen B. Avraham

Transcription profiling of inner ears from Pou4f3^ddl/ddl identifies Gfi1 as a target of the Pou4f3 deafness gene
Human Molecular Genetics Advance Access published on July 14, 2004
Hum. Mol. Genet. 2004 13: 2143-2153; doi:10.1093/hmg/ddh218 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Domenico Delia, Maria Piane, Giacomo Buscemi, Camilla Savio, Silvia Palmeri, Patrizia Lulli, Luigi Carlessi, Enrico Fontanella, and Luciana Chessa

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder
Human Molecular Genetics Advance Access published on July 21, 2004
Hum. Mol. Genet. 2004 13: 2155-2163; doi:10.1093/hmg/ddh221 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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