Human Molecular Genetics

ARTICLES:

Suzanna G. M. Frints, Peter Marynen, Dieter Hartmann, Jean-Pierre Fryns, Jean Steyaert, Melitta Schachner, Bettina Rolf, Katleen Craessaerts, An Snellinx, Karen Hollanders, Rudi D'Hooge, Peter P. De Deyn, and Guy Froyen

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior
Hum. Mol. Genet. 2003 12: 1463-1474; doi:10.1093/hmg/ddg165 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Audrey Robinson-White, Thomas R. Hundley, Miriam Shiferaw, Jérôme Bertherat, Fabiano Sandrini, and Constantine A. Stratakis

Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2
Hum. Mol. Genet. 2003 12: 1475-1484; doi:10.1093/hmg/ddg160 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Duong P. Huynh, Hai-Tao Yang, Hema Vakharia, Dung Nguyen, and Stefan M. Pulst

Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death
Hum. Mol. Genet. 2003 12: 1485-1496; doi:10.1093/hmg/ddg175 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lisa M. Mandrusiak, Lenore K. Beitel, Xiaoling Wang, Thomas C. Scanlon, Erica Chevalier-Larsen, Diane E. Merry, and Mark A. Trifiro

Transglutaminase potentiates ligand-dependent proteasome dysfunction induced by polyglutamine-expanded androgen receptor
Hum. Mol. Genet. 2003 12: 1497-1506; doi:10.1093/hmg/ddg161 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vesna Rapic-Otrin, Valentina Navazza, Tiziana Nardo, Elena Botta, Mary McLenigan, Dawn C. Bisi, Arthur S. Levine, and Miria Stefanini

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product
Hum. Mol. Genet. 2003 12: 1507-1522; doi:10.1093/hmg/ddg174 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christian Cobbold, Julie Coventry, Sreenivasan Ponnambalam, and Anthony P. Monaco

The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway
Hum. Mol. Genet. 2003 12: 1523-1533; doi:10.1093/hmg/ddg166 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yuko Okamura-Oho, Toshiyuki Miyashita, Kazuaki Nagao, Seigo Shima, Yukie Ogata, Toshiaki Katada, Hiroshi Nishina, and Masao Yamada

Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH₂-terminal kinase
Hum. Mol. Genet. 2003 12: 1535-1542; doi:10.1093/hmg/ddg168 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cécile Dalloz, Rachel Sarig, Patrice Fort, David Yaffe, Agnès Bordais, Thomas Pannicke, Jens Grosche, Dominique Mornet, Andreas Reichenbach, José Sahel, Uri Nudel, and Alvaro Rendon

Targeted inactivation of dystrophin gene product Dp71: phenotypic impact in mouse retina
Hum. Mol. Genet. 2003 12: 1543-1554; doi:10.1093/hmg/ddg170 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elizabeth J. Slow, Jeremy van Raamsdonk, Daniel Rogers, Sarah H. Coleman, Rona K. Graham, Yu Deng, Rosemary Oh, Nagat Bissada, Sazzad M. Hossain, Yu-Zhou Yang, Xiao-Jiang Li, Elizabeth M. Simpson, Claire-Anne Gutekunst, Blair R. Leavitt, and Michael R. Hayden

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease
Hum. Mol. Genet. 2003 12: 1555-1567; doi:10.1093/hmg/ddg169 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ionel Sandovici, Mark Leppert, Patricia Red Hawk, Alexander Suarez, Yendi Linares, and Carmen Sapienza

Familial aggregation of abnormal methylation of parental alleles at the IGF2/H19 and IGF2R differentially methylated regions
Hum. Mol. Genet. 2003 12: 1569-1578; doi:10.1093/hmg/ddg167 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yang Tang, Margaret L. McKinnon, Li Ming Leong, Sarah A. B. Rusholme, Susana Wang, and Rosemary J. Akhurst

Genetic modifiers interact with maternal determinants in vascular development of Tgfb1^-/- mice
Hum. Mol. Genet. 2003 12: 1579-1589; doi:10.1093/hmg/ddg164 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jill A. Morris, Geeta Kandpal, Lei Ma, and Christopher P. Austin

DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation
Hum. Mol. Genet. 2003 12: 1591-1608; doi:10.1093/hmg/ddg162 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Aura T. Chávez Zobel, Anne Loranger, Normand Marceau, Jimmy R. Thériault, Herman Lambert, and Jacques Landry

Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G B-crystallin mutant
Hum. Mol. Genet. 2003 12: 1609-1620; doi:10.1093/hmg/ddg173 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Walker S. Jackson, Sara J. Tallaksen-Greene, Roger L. Albin, and Peter J. Detloff

Nucleocytoplasmic transport signals affect the age at onset of abnormalities in knock-in mice expressing polyglutamine within an ectopic protein context
Hum. Mol. Genet. 2003 12: 1621-1629; doi:10.1093/hmg/ddg163 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrycja A. Krakowiak, Christopher A. Wassif, Lisa Kratz, Diana Cozma, Martina Kovárová, Ginny Harris, Alexander Grinberg, Yinzi Yang, Alasdair G.W. Hunter, Maria Tsokos, Richard I. Kelley, and Forbes D. Porter

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency
Hum. Mol. Genet. 2003 12: 1631-1641; doi:10.1093/hmg/ddg172 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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