Human Molecular Genetics

Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration
pp. 1349-1362(14)
Authors: Chen-Plotkin, Alice S.; Geser, Felix; Plotkin, Joshua B.; Clark, Chris M.; Kwong, Linda K.; Yuan, Wuxing; Grossman, Murray; Van Deerlin, Vivianna M.; Trojanowski, John Q.; Lee, Virginia M.-Y.

Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma
pp. 1363-1372(10)
Authors: Dimaras, Helen; Khetan, Vikas; Halliday, William; Orlic, Marija; Prigoda, Nadia L.; Piovesan, Beata; Marrano, Paula; Corson, Timothy W.; Eagle, Ralph C.; Squire, Jeremy A.; Gallie, Brenda L.

Heterodimer formation of wild-type and amyotrophic lateral sclerosis-causing mutant Cu/Zn-superoxide dismutase induces toxicity independent of protein aggregation
pp. 1373-1385(13)
Authors: Witan, Heidrun; Kern, Andreas; Koziollek-Drechsler, Ingrid; Wade, Rebecca; Behl, Christian; Clement, Albrecht M.

Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice
pp. 1386-1396(11)
Authors: Jugloff, Denis G.M.; Vandamme, Katrina; Logan, Richard; Visanji, Naomi P.; Brotchie, Jonathan M.; Eubanks, James H.

A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts
pp. 1397-1405(9)
Authors: Reamon-Buettner, Stella Marie; Ciribilli, Yari; Inga, Alberto; Borlak, Juergen

Deficiency of the INCL protein Ppt1 results in changes in ectopic F₁-ATP synthase and altered cholesterol metabolism
pp. 1406-1417(12)
Authors: Lyly, Annina; Marjavaara, Sanna K.; Kyttl, Aija; Uusi-Rauva, Kristiina; Luiro, Kaisu; Kopra, Outi; Martinez, Laurent O.; Tanhuanp, Kimmo; Kalkkinen, Nisse; Suomalainen, Anu; Jauhiainen, Matti; Jalanko, Anu

Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration
pp. 1418-1426(9)
Authors: Dufour, Eric; Terzioglu, Mgen; Sterky, Fredrik Hansson; Srensen, Lene; Galter, Dagmar; Olson, Lars; Wilbertz, Johannes; Larsson, Nils-Gran

Different mechanisms cause imprinting defects at the IGF2/H19 locus in BeckwithWiedemann syndrome and Wilms' tumour
pp. 1427-1435(9)
Authors: Cerrato, Flavia; Sparago, Angela; Verde, Gaetano; De Crescenzo, Agostina; Citro, Valentina; Cubellis, Maria Vittoria; Rinaldi, Maria Michela; Boccuto, Luigi; Neri, Giovanni; Magnani, Cinzia; D'Angelo, Paolo; Collini, Paola; Perotti, Daniela; Sebastio, Gianfranco; Maher, Eamonn R.; Riccio, Andrea

siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells
pp. 1436-1445(10)
Authors: Hewett, Jeffrey W.; Nery, Flvia C.; Niland, Brian; Ge, Pei; Tan, Pamela; Hadwiger, Philipp; Tannous, Bakhos A.; Sah, Dinah W.Y.; Breakefield, Xandra O.

Dopamine determines the vulnerability of striatal neurons to the N-terminal fragment of mutant huntingtin through the regulation of mitochondrial complex II
pp. 1446-1456(11)
Authors: Benchoua, Alexandra; Trioulier, Yal; Diguet, Elsa; Malgorn, Carole; Gaillard, Marie-Claude; Dufour, Noelle; Elalouf, Jean-Marc; Krajewski, Stan; Hantraye, Philippe; Dglon, Nicole; Brouillet, Emmanuel

Identification of genetic variants that influence circulating IGF1 levels: a targeted search strategy
pp. 1457-1464(8)
Authors: Palles, Claire; Johnson, Nichola; Coupland, Ben; Taylor, Claire; Carvajal, Jaime; Holly, Jeff; Fentiman, Ian S.; dos Santos Silva, Isabel; Ashworth, Alan; Peto, Julian; Fletcher, Olivia

Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice
pp. 1465-1481(17)
Authors: Lastres-Becker, Isabel; Brodesser, Susanne; Ltjohann, Dieter; Azizov, Mekhman; Buchmann, Jana; Hintermann, Edith; Sandhoff, Konrad; Schrmann, Annette; Nowock, Joachim; Auburger, Georg

Aberrant molecular properties shared by familial Parkinsons disease-associated mutant UCH-L1 and carbonyl-modified UCH-L1
pp. 1482-1496(15)
Authors: Kabuta, Tomohiro; Setsuie, Rieko; Mitsui, Takeshi; Kinugawa, Aiko; Sakurai, Mikako; Aoki, Shunsuke; Uchida, Kenko; Wada, Keiji

A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5 UTR of GDF5 with osteoarthritis susceptibility
pp. 1497-1504(8)
Authors: Chapman, Kay; Takahashi, Atsushi; Meulenbelt, Ingrid; Watson, Chris; Rodriguez-Lopez, Julio; Egli, Rainer; Tsezou, Aspasia; Malizos, Konstantinos N.; Kloppenburg, Margreet; Shi, Dongquan; Southam, Lorraine; van der Breggen, Ruud; Donn, Rachelle; Qin, Jianghui; Doherty, Michael; Slagboom, P. Eline; Wallis, Gillian; Kamatani, Naoyuki; Jiang, Qing; Gonzalez, Antonio; Loughlin, John; Ikegawa, Shiro