Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders.
Nature Communications
Cui, Ya Y; Arnold, Frederick J FJ; Peng, Fanglue F; Wang, Dan D; Li, Jason Sheng JS; Michels, Sebastian S; Wagner, Eric J EJ; La Spada, Albert R AR; Li, Wei W
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
Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.
Movement Disorders : Official Journal Of The Movement Disorder Society
Seo, Soo Hyun SH; Bacolla, Albino A; Yoo, Dallah D; Koo, Yoon Jung YJ; Cho, Sung Im SI; Kim, Man Jin MJ; Seong, Moon-Woo MW; Kim, Han-Joon HJ; Kim, Jong-Min JM; Tainer, John A JA; Park, Sung Sup SS; Kim, Ji Yeon JY; Jeon, Beomseok B
SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease.
Movement Disorders : Official Journal Of The Movement Disorder Society
Fernández-Santiago, Rubén R; Martín-Flores, Núria N; Antonelli, Francesca F; Cerquera, Catalina C; Moreno, Verónica V; Bandres-Ciga, Sara S; Manduchi, Elisabetta E; Tolosa, Eduard E; Singleton, Andrew B AB; Moore, Jason H JH; , ; Martí, María-Josep MJ; Ezquerra, Mario M; Malagelada, Cristina C
Comparative analyses of sperm DNA methylomes among human, mouse and cattle provide insights into epigenomic evolution and complex traits.
Epigenetics
Fang, Lingzhao L; Zhou, Yang Y; Liu, Shuli S; Jiang, Jicai J; Bickhart, Derek M DM; Null, Daniel J DJ; Li, Bingjie B; Schroeder, Steven G SG; Rosen, Benjamin D BD; Cole, John B JB; Van Tassell, Curtis P CP; Ma, Li L; Liu, George E GE
Accuracy of Rating Scales and Clinical Measures for Screening of Rapid Eye Movement Sleep Behavior Disorder and for Predicting Conversion to Parkinson's Disease and Other Synucleinopathies.
Frontiers In Neurology
Skorvanek, Matej M; Feketeova, Eva E; Kurtis, Monica M MM; Rusz, Jan J; Sonka, Karel K
Discovering the 3' UTR-mediated regulation of alpha-synuclein.
Nucleic Acids Research
Marchese, Domenica D; Botta-Orfila, Teresa T; Cirillo, Davide D; Rodriguez, Juan Antonio JA; Livi, Carmen Maria CM; Fernández-Santiago, Rubén R; Ezquerra, Mario M; Martí, Maria J MJ; Bechara, Elias E; Tartaglia, Gian Gaetano GG; ,
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.
Genome Biology
Patel, Nisha N; Khan, Arif O AO; Al-Saif, Maher M; Moghrabi, Walid N WN; AlMaarik, Balsam M BM; Ibrahim, Niema N; Abdulwahab, Firdous F; Hashem, Mais M; Alshidi, Tarfa T; Alobeid, Eman E; Alomar, Rana A RA; Al-Harbi, Saad S; Abouelhoda, Mohamed M; Khabar, Khalid S A KSA; Alkuraya, Fowzan S FS
Variants in SNCA Gene Are Associated with Parkinson's Disease Risk and Cognitive Symptoms in a Brazilian Sample.
Frontiers In Aging Neuroscience
Campêlo, Clarissa L C CLC; Cagni, Fernanda C FC; de Siqueira Figueredo, Diego D; Oliveira, Luiz G LG; Silva-Neto, Antônio B AB; Macêdo, Priscila T PT; Santos, José R JR; Izídio, Geison S GS; Ribeiro, Alessandra M AM; de Andrade, Tiago G TG; de Oliveira Godeiro, Clécio C; Silva, Regina H RH
Genetic analysis of α-synuclein 3' untranslated region and its corresponding microRNAs in relation to Parkinson's disease compared to dementia with Lewy bodies.
Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Tagliafierro, Lidia L; Glenn, Omolara-Chinue OC; Zamora, Madison E ME; Beach, Thomas G TG; Woltjer, Randy L RL; Lutz, Michael W MW; Chiba-Falek, Ornit O
Common variant rs356182 near SNCA defines a Parkinson's disease endophenotype.
Annals Of Clinical And Translational Neurology
Cooper, Christine A CA; Jain, Nimansha N; Gallagher, Michael D MD; Weintraub, Daniel D; Xie, Sharon X SX; Berlyand, Yosef Y; Espay, Alberto J AJ; Quinn, Joseph J; Edwards, Karen L KL; Montine, Thomas T; Van Deerlin, Vivianna M VM; Trojanowski, John J; Zabetian, Cyrus P CP; Chen-Plotkin, Alice S AS
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