Human Molecular Genetics

ARTICLES:

Barbara Incerti, Katia Cortese, Alessandro Pizzigoni, Enrico M. Surace, Simona Varani, Massimiliano Coppola, Glen Jeffery, Mathias Seeliger, Gesine Jaissle, Dorothy C. Bennett, Valeria Marigo, Maria Vittoria Schiaffino, Carlo Tacchetti, and Andrea Ballabio

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1
Hum. Mol. Genet. 2000 9: 2781-2788; doi:10.1093/hmg/9.19.2781 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paige Hilditch-Maguire, Flavia Trettel, Lucius A. Passani, Anna Auerbach, Francesca Persichetti, and Marcy E. MacDonald

Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles
Hum. Mol. Genet. 2000 9: 2789-2797; doi:10.1093/hmg/9.19.2789 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Flavia Trettel, Dorotea Rigamonti, Paige Hilditch-Maguire, Vanessa C. Wheeler, Alan H. Sharp, Francesca Persichetti, Elena Cattaneo, and Marcy E. MacDonald

Dominant phenotypes produced by the HD mutation in STHdh^Q111 striatal cells
Hum. Mol. Genet. 2000 9: 2799-2809; doi:10.1093/hmg/9.19.2799 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H.Y. Edwin Chan, John M. Warrick, Gladys L. Gray-Board, Henry L. Paulson, and Nancy M. Bonini

Mechanisms of chaperone suppression of polyglutamine disease: selectivity, synergy and modulation of protein solubility in Drosophila
Hum. Mol. Genet. 2000 9: 2811-2820; doi:10.1093/hmg/9.19.2811 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Olli A. Kajander, Anja T. Rovio, Kari Majamaa, Joanna Poulton, Johannes N. Spelbrink, Ian J. Holt, Pekka J. Karhunen, and Howard T. Jacobs

Human mtDNA sublimons resemble rearranged mitochondrial genomes found in pathological states
Hum. Mol. Genet. 2000 9: 2821-2835; doi:10.1093/hmg/9.19.2821 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Angela M. Devlin, Erh-hsin Ling, Janet M. Peerson, Shama Fernando, Robert Clarke, A. David Smith, and Charles H. Halsted

Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia
Hum. Mol. Genet. 2000 9: 2837-2844; doi:10.1093/hmg/9.19.2837 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michael J. Petris, Daniel Strausak, and Julian F.B. Mercer

The Menkes copper transporter is required for the activation of tyrosinase
Hum. Mol. Genet. 2000 9: 2845-2851; doi:10.1093/hmg/9.19.2845 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Matthias R. Baumgartner, Chien-an A. Hu, Shlomo Almashanu, Gary Steel, Cassandra Obie, Bernard Aral, Daniel Rabier, Pierre Kamoun, Jean-Marie Saudubray, and David Valle

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding ¹-pyrroline-5-carboxylate synthase
Hum. Mol. Genet. 2000 9: 2853-2858; doi:10.1093/hmg/9.19.2853 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shi-Hua Li, Suzanne Lam, Anna L. Cheng, and Xiao-Jiang Li

Intranuclear huntingtin increases the expression of caspase-1 and induces apoptosis
Hum. Mol. Genet. 2000 9: 2859-2867; doi:10.1093/hmg/9.19.2859 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Philip J. Young, Nguyen thi Man, Christian L. Lorson, Thanh T. Le, Elliot J. Androphy, Arthur H.M. Burghes, and Glenn E. Morris

The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding
Hum. Mol. Genet. 2000 9: 2869-2877; doi:10.1093/hmg/9.19.2869 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Petra G.M. van Overveld, Richard J.F.L. Lemmers, Giancarlo Deidda, Lodewijk Sandkuijl, George W. Padberg, Rune R. Frants, and Silvère M. van der Maarel

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity
Hum. Mol. Genet. 2000 9: 2879-2884; doi:10.1093/hmg/9.19.2879 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tamara L. Davis, Grace J. Yang, John R. McCarrey, and Marisa S. Bartolomei

The H19 methylation imprint is erased and re-established differentially on the parental alleles during male germ cell development
Hum. Mol. Genet. 2000 9: 2885-2894; doi:10.1093/hmg/9.19.2885 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Margret R. Hoehe, Karla Köpke, Birgit Wendel, Klaus Rohde, Christina Flachmeier, Kenneth K. Kidd, Wade H. Berrettini, and George M. Church

Sequence variability and candidate gene analysis in complex disease: association of µ opioid receptor gene variation with substance dependence
Hum. Mol. Genet. 2000 9: 2895-2908; doi:10.1093/hmg/9.19.2895 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dana C. Crawford, Beth Wilson, and Stephanie L. Sherman

Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR
Hum. Mol. Genet. 2000 9: 2909-2918; doi:10.1093/hmg/9.19.2909 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Naoko Sugata, Shulan Li, William C. Earnshaw, Tim J. Yen, Kinya Yoda, Hiroshi Masumoto, Eisuke Munekata, Peter E. Warburton, and Kazuo Todokoro

Human CENP-H multimers colocalize with CENP-A and CENP-C at active centromere–kinetochore complexes
Hum. Mol. Genet. 2000 9: 2919-2926; doi:10.1093/hmg/9.19.2919 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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