Human Molecular Genetics

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Loss of Mfn2 results in progressive, retrograde degeneration of dopaminergic neurons in the nigrostriatal circuit
pp. 4817-4826(10)
Authors: Pham, Anh H.; Meng, Shuxia; Chu, Quynh N.; Chan, David C.

Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons
pp. 4827-4835(9)
Authors: Lee, Seungmin; Sterky, Fredrik H.; Mourier, Arnaud; Terzioglu, Mügen; Cullheim, Staffan; Olson, Lars; Larsson, Nils-Göran

Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome
pp. 4836-4844(9)
Authors: Wells, Timothy; Davies, Jennifer R.; Guschina, Irina A.; Ball, Daniel J.; Davies, Jeffrey S.; Davies, Vanessa J.; Evans, Bronwen A. J.; Votruba, Marcela

High-content RNAi screening identifies the Type 1 inositol triphosphate receptor as a modifier of TDP-43 localization and neurotoxicity
pp. 4845-4856(12)
Authors: Kim, Sang Hwa; Zhan, Lihong; Hanson, Keith A.; Tibbetts, Randal S.

Mutant human APP exacerbates pathology in a mouse model of NPC and its reversal by a β-cyclodextrin
pp. 4857-4875(19)
Authors: Maulik, Mahua; Ghoshal, Bibaswan; Kim, John; Wang, Yanlin; Yang, Jing; Westaway, David; Kar, Satyabrata

Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease
pp. 4876-4887(12)
Authors: Elrick, Matthew J.; Yu, Ting; Chung, Chan; Lieberman, Andrew P.

ROS-dependent regulation of Parkin and DJ-1 localization during oxidative stress in neurons
pp. 4888-4903(16)
Authors: Joselin, Alvin P.; Hewitt, Sarah J.; Callaghan, Steve M.; Kim, Raymond H.; Chung, Young-Hwa; Mak, Tak W.; Shen, Jie; Slack, Ruth S.; Park, David S.

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis
pp. 4904-4909(6)
Authors: Campeau, Philippe M.; Lu, James T.; Sule, Gautam; Jiang, Ming-Ming; Bae, Yangjin; Madan, Simran; Högler, Wolfgang; Shaw, Nicholas J.; Mumm, Steven; Gibbs, Richard A.; Whyte, Michael P.; Lee, Brendan H.

Converging evidence that sequence variations in the novel candidate gene MAP2K7 (MKK7) are functionally associated with schizophrenia
pp. 4910-4921(12)
Authors: Winchester, Catherine L.; Ohzeki, Hiromitsu; Vouyiouklis, Demetrius A.; Thompson, Rhiannon; Penninger, Josef M.; Yamagami, Keiji; Norrie, John D.; Hunter, Robert; Pratt, Judith A.; Morris, Brian J.

Dkk3 is a component of the genetic circuitry regulating aldosterone biosynthesis in the adrenal cortex
pp. 4922-4929(8)
Authors: El Wakil, Abeer; Bandulik, Sascha; Guy, Nicolas; Bendahhou, Saïd; Zennaro, Maria-Christina; Niehrs, Christof; Mari, Bernard; Warth, Richard; Barhanin, Jacques; Lalli, Enzo

Functional characterization of tissue-specific enhancers in the DLX5/6 locus
pp. 4930-4938(9)
Authors: Birnbaum, Ramon Y.; Everman, David B.; Murphy, Karl K.; Gurrieri, Fiorella; Schwartz, Charles E.; Ahituv, Nadav

Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice
pp. 4939-4947(9)
Authors: Møllersen, Linda; Rowe, Alexander D.; Illuzzi, Jennifer L.; Hildrestrand, Gunn A.; Gerhold, Katharina J.; Tveterås, Linda; Bjølgerud, Anja; Wilson, David M.; Bjørås, Magnar; Klungland, Arne

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4
pp. 4948-4956(9)
Authors: Salewsky, Bastian; Schmiester, Maren; Schindler, Detlev; Digweed, Martin; Demuth, Ilja

Comparative analysis of somatic copy-number alterations across different human cancer types reveals two distinct classes of breakpoint hotspots
pp. 4957-4965(9)
Authors: Li, Yudong; Zhang, Li; Ball, Robyn L.; Liang, Xinle; Li, Jianrong; Lin, Zhenguo; Liang, Han

LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6
pp. 4966-4979(14)
Authors: Berwick, Daniel C.; Harvey, Kirsten

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls
pp. 4980-4995(16)
Authors: Timofeeva, Maria N.; Hung, Rayjean J.; Rafnar, Thorunn; Christiani, David C.; Field, John K.; Bickeböller, Heike; Risch, Angela; McKay, James D.; Wang, Yufei; Dai, Juncheng; Gaborieau, Valerie; McLaughlin, John; Brenner, Darren; Narod, Steven A.; Caporaso, Neil E.; Albanes, Demetrius; Thun, Michael; Eisen, Timothy; Wichmann, H.-Erich; Rosenberger, Albert; Han, Younghun; Chen, Wei; Zhu, Dakai; Spitz, Margaret; Wu, Xifeng; Pande, Mala; Zhao, Yang; Zaridze, David; Szeszenia-Dabrowska, Neonilia; Lissowska, Jolanta; Rudnai, Peter; Fabianova, Eleonora; Mates, Dana; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Krokan, Hans E.; Gabrielsen, Maiken Elvestad; Skorpen, Frank; Vatten, Lars; Njølstad, Inger; Chen, Chu; Goodman, Gary; Lathrop, Mark; Benhamou, Simone; Vooder, Tõnu; Välk, Kristjan; Nelis, Mari; Metspalu, Andres; Raji, Olaide; Chen, Ying; Gosney, John; Liloglou, Triantafillos; Muley, Thomas; Dienemann, Hendrik; Thorleifsson, Gudmar; Shen, Hongbing; Stefansson, Kari; Brennan, Paul; Amos, Christopher I.; Houlston, Richard; Landi, Maria Teresa

Using genome-wide complex trait analysis to quantify `missing heritability' in Parkinson's disease
pp. 4996-5009(14)
Authors: Keller, Margaux F.; Saad, Mohamad; Bras, Jose; Bettella, Francesco; Nicolaou, Nayia; Simón-Sánchez, Javier; Mittag, Florian; Büchel, Finja; Sharma, Manu; Gibbs, J. Raphael; Schulte, Claudia; Moskvina, Valentina; Durr, Alexandra; Holmans, Peter; Kilarski, Laura L.; Guerreiro, Rita; Hernandez, Dena G.; Brice, Alexis; Ylikotila, Pauli; Stefánsson, Hreinn; Majamaa, Kari; Morris, Huw R.; Williams, Nigel; Gasser, Thomas; Heutink, Peter; Wood, Nicholas W.; Hardy, John; Martinez, Maria; Singleton, Andrew B.; Nalls, Michael A.

Pancreatic beta-cell function and type 2 diabetes risk: quantify the causal effect using a Mendelian randomization approach based on meta-analyses
pp. 5010-5018(9)
Authors: Song, Yiqing; Yeung, Edwina; Liu, Aiyi; VanderWeele, Tyler J.; Chen, Liwei; Lu, Chen; Liu, Chunling; Schisterman, Enrique F.; Ning, Yi; Zhang, Cuilin