Human Molecular Genetics

ARTICLES

Get checked abstract Stefania Corti, Federica Locatelli, Dimitra Papadimitriou, Chiara Donadoni, Roberto Del Bo, Marco Crimi, Andreina Bordoni, Francesco Fortunato, Sandra Strazzer, Giorgia Menozzi, Sabrina Salani, Nereo Bresolin, and Giacomo P. Comi

Transplanted ALDH^hiSSC^lo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1
Human Molecular Genetics Advance Access published on December 8, 2005
Hum. Mol. Genet. 2006 15: 167-187; doi:10.1093/hmg/ddi446 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Conrad C. Weihl, Seema Dalal, Alan Pestronk, and Phyllis I. Hanson

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation
Human Molecular Genetics Advance Access published on December 1, 2005
Hum. Mol. Genet. 2006 15: 189-199; doi:10.1093/hmg/ddi426 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Jae Ho Lee, Dorothea Schütte, Gerald Wulf, Laszlo Füzesi, Heinz-Joachim Radzun, Stephan Schweyer, Wolfgang Engel, and Karim Nayernia

Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-X_L pathway
Human Molecular Genetics Advance Access published on December 23, 2005
Hum. Mol. Genet. 2006 15: 201-211; doi:10.1093/hmg/ddi430 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Manuel A.F.V. Gonçalves, Antoine A.F. de Vries, Maarten Holkers, Marloes J.M. van de Watering, Ietje van der Velde, Gijsbert P. van Nierop, Dinko Valerio, and Shoshan Knaän-Shanzer

Human mesenchymal stem cells ectopically expressing full-length dystrophin can complement Duchenne muscular dystrophy myotubes by cell fusion
Human Molecular Genetics Advance Access published on December 1, 2005
Hum. Mol. Genet. 2006 15: 213-221; doi:10.1093/hmg/ddi438 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Christian Johannes Gloeckner, Norbert Kinkl, Annette Schumacher, Ralf J. Braun, Eric O'Neill, Thomas Meitinger, Walter Kolch, Holger Prokisch, and Marius Ueffing

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity
Human Molecular Genetics Advance Access published on December 1, 2005
Hum. Mol. Genet. 2006 15: 223-232; doi:10.1093/hmg/ddi439 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Shinji Hadano, Susanna C. Benn, Shigeru Kakuta, Asako Otomo, Katsuko Sudo, Ryota Kunita, Kyoko Suzuki-Utsunomiya, Hikaru Mizumura, Jeremy M. Shefner, Gregory A. Cox, Yoichiro Iwakura, Robert H. Brown, Jr, and Joh-E Ikeda

Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking
Human Molecular Genetics Advance Access published on December 1, 2005
Hum. Mol. Genet. 2006 15: 233-250; doi:10.1093/hmg/ddi440 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Hane Lee, Joanna C. Jen, Hui Wang, Zugen Chen, Hafsa Mamsa, Chiara Sabatti, Robert W. Baloh, and Stanley F. Nelson

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity
Human Molecular Genetics Advance Access published on December 5, 2005
Hum. Mol. Genet. 2006 15: 251-258; doi:10.1093/hmg/ddi441 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Barbara L. Apostol, Katalin Illes, Judit Pallos, Laszlo Bodai, Jun Wu, Andrew Strand, Erik S. Schweitzer, James M. Olson, Aleksey Kazantsev, J. Lawrence Marsh, and Leslie Michels Thompson

Mutant huntingtin alters MAPK signaling pathways in PC12 and striatal cells: ERK1/2 protects against mutant huntingtin-associated toxicity
Human Molecular Genetics Advance Access published on December 5, 2005
Hum. Mol. Genet. 2006 15: 273-285; doi:10.1093/hmg/ddi443 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Aristotelis Astrinidis, William Senapedis, and Elizabeth P. Henske

Hamartin, the tuberous sclerosis complex 1 gene product, interacts with polo-like kinase 1 in a phosphorylation-dependent manner
Human Molecular Genetics Advance Access published on December 8, 2005
Hum. Mol. Genet. 2006 15: 287-297; doi:10.1093/hmg/ddi444 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Charles E. Glatt, Angelika D. Wahner, Daniel J. White, Andres Ruiz-Linares, and Beate Ritz

Gain-of-function haplotypes in the vesicular monoamine transporter promoter are protective for Parkinson disease in women
Human Molecular Genetics Advance Access published on December 8, 2005
Hum. Mol. Genet. 2006 15: 299-305; doi:10.1093/hmg/ddi445 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Christopher M. Sanderson, James W. Connell, Thomas L. Edwards, Nicholas A. Bright, Simon Duley, Amanda Thompson, J. Paul Luzio, and Evan Reid

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners
Human Molecular Genetics Advance Access published on December 8, 2005
Hum. Mol. Genet. 2006 15: 307-318; doi:10.1093/hmg/ddi447 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Kristen M. Huang, Junhua Wu, Melinda K. Duncan, Chris Moy, Amalia Dutra, Jack Favor, Tong Da, and Dwight Stambolian

Xcat, a novel mouse model for Nance–Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform
Human Molecular Genetics Advance Access published on December 15, 2005
Hum. Mol. Genet. 2006 15: 319-327; doi:10.1093/hmg/ddi449 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Dong-Qing Xu and William Mattox

Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies
Human Molecular Genetics Advance Access published on December 15, 2005
Hum. Mol. Genet. 2006 15: 329-336; doi:10.1093/hmg/ddi450 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Zhongjian Zhang, Yi-Ching Lee, Sung-Jo Kim, Moonsuk S. Choi, Pei-Chih Tsai, Yan Xu, Yi-Jin Xiao, Peng Zhang, Alison Heffer, and Anil B. Mukherjee

Palmitoyl-protein thioesterase-1 deficiency mediates the activation of the unfolded protein response and neuronal apoptosis in INCL
Human Molecular Genetics Advance Access published on December 20, 2005
Hum. Mol. Genet. 2006 15: 337-346; doi:10.1093/hmg/ddi451 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Steven Ackerley, Paul A. James, Arran Kalli, Sarah French, Kay E. Davies, and Kevin Talbot

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes
Human Molecular Genetics Advance Access published on December 20, 2005
Hum. Mol. Genet. 2006 15: 347-354; doi:10.1093/hmg/ddi452 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Peter T.E. Wootton, Fotios Drenos, Jackie A. Cooper, Simon R. Thompson, Jeffrey W. Stephens, Eva Hurt-Camejo, Olov Wiklund, Steve E. Humphries, and Philippa J. Talmud

Tagging-SNP haplotype analysis of the secretory PLA₂IIa gene PLA2G2A shows strong association with serum levels of sPLA2IIa: results from the UDACS study
Human Molecular Genetics Advance Access published on December 20, 2005
Hum. Mol. Genet. 2006 15: 355-361; doi:10.1093/hmg/ddi453 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Gregory R. Stuart, Janine H. Santos, Micheline K. Strand, Bennett Van Houten, and William C. Copeland

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase associated with progressive external ophthalmoplegia
Human Molecular Genetics Advance Access published on December 20, 2005
Hum. Mol. Genet. 2006 15: 363-374; doi:10.1093/hmg/ddi454 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM

Malin Engelmark, Anna Beskow, Jessica Magnusson, Henry Erlich, and Ulf Gyllensten

Affected sib-pair analysis of the contribution of HLA class I and class II loci to development of cervical cancer
Hum. Mol. Genet. 2006 15: 375; doi:10.1093/hmg/ddi464 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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