Whole-genome sequencing reveals an association between small genomic deletions and an increased risk of developing Parkinson's disease.
Experimental & Molecular Medicine
Oh, Ji-Hye JH; Jo, Sungyang S; Park, Kye Won KW; Lee, Eun-Jae EJ; Lee, Seung Hyun SH; Hwang, Yun Su YS; Jeon, Ha Ra HR; Ryu, Yeonjin Y; Yoon, Hee Jeong HJ; Chun, Sung-Min SM; Kim, Chong Jai CJ; Kim, Tae Won TW; Sung, Chang Ohk CO; Chae, Sehyun S; Chung, Sun Ju SJ
Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.
Science Advances
Cheng, Fubo F; Zheng, Wenxu W; Liu, Chang C; Barbuti, Peter Antony PA; Yu-Taeger, Libo L; Casadei, Nicolas N; Huebener-Schmid, Jeannette J; Admard, Jakob J; Boldt, Karsten K; Junger, Katrin K; Ueffing, Marius M; Houlden, Henry H; Sharma, Manu M; Kruger, Rejko R; Grundmann-Hauser, Kathrin K; Ott, Thomas T; Riess, Olaf O
SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression.
Nature Communications
Hou, Guojun G; Harley, Isaac T W ITW; Lu, Xiaoming X; Zhou, Tian T; Xu, Ning N; Yao, Chao C; Qin, Yuting Y; Ouyang, Ye Y; Ma, Jianyang J; Zhu, Xinyi X; Yu, Xiang X; Xu, Hong H; Dai, Dai D; Ding, Huihua H; Yin, Zhihua Z; Ye, Zhizhong Z; Deng, Jun J; Zhou, Mi M; Tang, Yuanjia Y; Namjou, Bahram B; Guo, Ya Y; Weirauch, Matthew T MT; Kottyan, Leah C LC; Harley, John B JB; Shen, Nan N
Alpha-Synuclein in Alcohol Use Disorder, Connections with Parkinson's Disease and Potential Therapeutic Role of 5' Untranslated Region-Directed Small Molecules.
Biomolecules
Cahill, Catherine M CM; Aleyadeh, Rozaleen R; Gao, Jin J; Wang, Changning C; Rogers, Jack T JT
Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.
Annals Of Neurology
Krohn, Lynne L; Wu, Richard Y J RYJ; Heilbron, Karl K; Ruskey, Jennifer A JA; Laurent, Sandra B SB; Blauwendraat, Cornelis C; Alam, Armaghan A; Arnulf, Isabelle I; Hu, Michele T M MTM; Dauvilliers, Yves Y; Högl, Birgit B; Toft, Mathias M; Bjørnarå, Kari Anne KA; Stefani, Ambra A; Holzknecht, Evi E; Monaca, Christelle Charley CC; Abril, Beatriz B; Plazzi, Giuseppe G; Antelmi, Elena E; Ferini-Strambi, Luigi L; Young, Peter P; Heidbreder, Anna A; Cochen De Cock, Valérie V; Mollenhauer, Brit B; Sixel-Döring, Friederike F; Trenkwalder, Claudia C; Sonka, Karel K; Kemlink, David D; Figorilli, Michela M; Puligheddu, Monica M; Dijkstra, Femke F; Viaene, Mineke M; Oertel, Wolfang W; Toffoli, Marco M; Gigli, Gian Luigi GL; Valente, Mariarosaria M; Gagnon, Jean-François JF; Nalls, Mike A MA; Singleton, Andrew B AB; , ; Desautels, Alex A; Montplaisir, Jacques Y JY; Cannon, Paul P; Ross, Owen A OA; Boeve, Bradley F BF; Dupré, Nicolas N; Fon, Edward A EA; Postuma, Ronald B RB; Pihlstrøm, Lasse L; Rouleau, Guy A GA; Gan-Or, Ziv Z
A multi-faceted genotoxic network of alpha-synuclein in the nucleus and mitochondria of dopaminergic neurons in Parkinson's disease: Emerging concepts and challenges.
Progress In Neurobiology
Vasquez, Velmarini V; Mitra, Joy J; Wang, Haibo H; Hegde, Pavana M PM; Rao, K S KS; Hegde, Muralidhar L ML
Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons.
American Journal Of Human Genetics
McClymont, Sarah A SA; Hook, Paul W PW; Soto, Alexandra I AI; Reed, Xylena X; Law, William D WD; Kerans, Samuel J SJ; Waite, Eric L EL; Briceno, Nicole J NJ; Thole, Joey F JF; Heckman, Michael G MG; Diehl, Nancy N NN; Wszolek, Zbigniew K ZK; Moore, Cedric D CD; Zhu, Heng H; Akiyama, Jennifer A JA; Dickel, Diane E DE; Visel, Axel A; Pennacchio, Len A LA; Ross, Owen A OA; Beer, Michael A MA; McCallion, Andrew S AS
Molecular and functional variation in iPSC-derived sensory neurons.
Nature Genetics
Schwartzentruber, Jeremy J; Foskolou, Stefanie S; Kilpinen, Helena H; Rodrigues, Julia J; Alasoo, Kaur K; Knights, Andrew J AJ; Patel, Minal M; Goncalves, Angela A; Ferreira, Rita R; Benn, Caroline Louise CL; Wilbrey, Anna A; Bictash, Magda M; Impey, Emma E; Cao, Lishuang L; Lainez, Sergio S; Loucif, Alexandre Julien AJ; Whiting, Paul John PJ; , ; Gutteridge, Alex A; Gaffney, Daniel J DJ
Regional analysis and genetic association of nigrostriatal degeneration in Lewy body disease.
Movement Disorders : Official Journal Of The Movement Disorder Society
Kasanuki, Koji K; Heckman, Michael G MG; Diehl, Nancy N NN; Murray, Melissa E ME; Koga, Shunsuke S; Soto, Alexandra A; Ross, Owen A OA; Dickson, Dennis W DW
The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression.
Nature Communications
Liu, Ning Qing NQ; Ter Huurne, Menno M; Nguyen, Luan N LN; Peng, Tianran T; Wang, Shuang-Yin SY; Studd, James B JB; Joshi, Onkar O; Ongen, Halit H; Bramsen, Jesper B JB; Yan, Jian J; Andersen, Claus L CL; Taipale, Jussi J; Dermitzakis, Emmanouil T ET; Houlston, Richard S RS; Hubner, Nina C NC; Stunnenberg, Hendrik G HG
Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression.
Nature
Soldner, Frank F; Stelzer, Yonatan Y; Shivalila, Chikdu S CS; Abraham, Brian J BJ; Latourelle, Jeanne C JC; Barrasa, M Inmaculada MI; Goldmann, Johanna J; Myers, Richard H RH; Young, Richard A RA; Jaenisch, Rudolf R
Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee.
Plos Genetics
Hamza, Taye H TH; Chen, Honglei H; Hill-Burns, Erin M EM; Rhodes, Shannon L SL; Montimurro, Jennifer J; Kay, Denise M DM; Tenesa, Albert A; Kusel, Victoria I VI; Sheehan, Patricia P; Eaaswarkhanth, Muthukrishnan M; Yearout, Dora D; Samii, Ali A; Roberts, John W JW; Agarwal, Pinky P; Bordelon, Yvette Y; Park, Yikyung Y; Wang, Liyong L; Gao, Jianjun J; Vance, Jeffery M JM; Kendler, Kenneth S KS; Bacanu, Silviu-Alin SA; Scott, William K WK; Ritz, Beate B; Nutt, John J; Factor, Stewart A SA; Zabetian, Cyrus P CP; Payami, Haydeh H
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.
Nature Genetics
Hamza, Taye H TH; Zabetian, Cyrus P CP; Tenesa, Albert A; Laederach, Alain A; Montimurro, Jennifer J; Yearout, Dora D; Kay, Denise M DM; Doheny, Kimberly F KF; Paschall, Justin J; Pugh, Elizabeth E; Kusel, Victoria I VI; Collura, Randall R; Roberts, John J; Griffith, Alida A; Samii, Ali A; Scott, William K WK; Nutt, John J; Factor, Stewart A SA; Payami, Haydeh H
Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.
Plos One
Al-Chalabi, Ammar A; Dürr, Alexandra A; Wood, Nicholas W NW; Parkinson, Michael H MH; Camuzat, Agnes A; Hulot, Jean-Sébastien JS; Morrison, Karen E KE; Renton, Alan A; Sussmuth, Sigurd D SD; Landwehrmeyer, Bernhard G BG; Ludolph, Albert A; Agid, Yves Y; Brice, Alexis A; Leigh, P Nigel PN; Bensimon, Gilbert G; ,