日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mutant huntingtin induces neuronal apoptosis via derepressing the non-canonical poly(A) polymerase PAPD5.

突变亨廷顿蛋白通过解除对非经典聚腺苷酸聚合酶 PAPD5 的抑制来诱导神经元凋亡

Chen Zhefan Stephen, Peng Shaohong Isaac, Leong Lok I, Gall-Duncan Terence, Wong Nathan Siu Jun, Li Tsz Ho, Lin Xiao, Wei Yuming, Koon Alex Chun, Huang Junzhe, Sun Jacquelyne Ka-Li, Turner Clinton, Tippett Lynette, Curtis Maurice A, Faull Richard L M, Kwan Kin Ming, Chow Hei-Man, Ko Ho, Chan Ting-Fung, Talbot Kevin, Pearson Christopher E, Chan Ho Yin Edwin

FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?

FGF14 重复长度和嵌合中断:脊髓小脑性共济失调 27B 的修饰因子?

Laß, Joshua; Thomsen, Mirja; Borsche, Max; Lüth, Theresa; Prietzsche, Julia C; Schaake, Susen; Milovanović, Andona; Macpherson, Hannah; Gustavsson, Emil K; Saffie Awad, Paula; Dragašević-Mišković, Nataša; Laabs, Björn-Hergen; König, Inke R; Westenberger, Ana; Pearson, Christopher E; Brüggemann, Norbert; Klein, Christine; Trinh, Joanne

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面的信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Starosta, Rodrigo T; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine A; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer E; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik G; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

Striatal pathology in Spinocerebellar Ataxia Type 1 mice: A comparative study with Huntington's disease

脊髓小脑性共济失调1型小鼠纹状体病理:与亨廷顿病的比较研究

Goel, Pragya; Yang, Praseuth; Duvick, Lisa; Rainwater, Orion; Serres, Shannah; O'Callaghan, Brennon; Gomez-Pastor, Rocio; Mehkary, Mustafa; Gall-Duncan, Terence; Langfelder, Peter; Yang, X William; Pearson, Christopher E; Rothwell, Patrick E; Orr, Harry T

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Tzovenos, Rodrigo Starosta; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

Interventionally targeting somatic CAG expansions can be a rapid disease-modifying therapeutic avenue: Preclinical evidence.

干预性靶向体细胞 CAG 扩增可能是一种快速改变疾病的治疗途径:临床前证据

Gall-Duncan Terence, Ko Sangyoon Y, Quick Isabelle K, Khan Mahreen, Feng Kristie, Kelley Chase P, Coleman Annabelle, Touze Alexiane, Tang Shuqian, Mehkary Mustafa, Yokoi Katsuyuki, Herrington Casey R, You Justin, Lambie Scott C, Prasolava Tanya K, Panigrahi Gagan B, Park Jeehye, Nakatani Kazuhiko, Byrne Lauren M, Wang Peixiang, Schneekloth John S Jr, Nakamori Masayuki, Frankland Paul W, Wang Eric T, Pearson Christopher E

C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A

C9orf72 扩增导致不稳定的叶酸敏感脆性位点 FRA9A 的形成。

Mirceta, Mila; Schmidt, Monika H M; Shum, Natalie; Prasolava, Tanya K; Meikle, Bryanna; Lanni, Stella; Mohiuddin, Mohiuddin; Mckeever, Paul M; Zhang, Ming; Liang, Minggao; van der Werf, Ilse; Scheers, Stefaan; Dion, Patrick A; Wang, Peixiang; Wilson, Michael D; Abell, Theresa; Philips, Elliot A; Sznajder, Łukasz J; Swanson, Maurice S; Mehkary, Mustafa; Khan, Mahreen; Yokoi, Katsuyuki; Jung, Christine; de Jong, Pieter J; Freudenreich, Catherine H; McGoldrick, Philip; Yuen, Ryan K C; Abrahão, Agessandro; Keith, Julia; Zinman, Lorne; Robertson, Janice; Rogaeva, Ekaterina; Rouleau, Guy A; Kooy, R Frank; Pearson, Christopher E

C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A

C9orf72重复序列扩增导致不稳定的叶酸敏感脆性位点FRA9A的形成。

Mirceta, Mila; Schmidt, Monika H M; Shum, Natalie; Prasolava, Tanya K; Meikle, Bryanna; Lanni, Stella; Mohiuddin, Mohiuddin; McKeever, Paul M; Zhang, Ming; Liang, Minggao; van der Werf, Ilse; Scheers, Stefaan; Dion, Patrick A; Wang, Peixiang; Wilson, Michael D; Abell, Theresa; Philips, Elliot A; Sznajder, Łukasz J; Swanson, Maurice S; Mehkary, Mustafa; Khan, Mahreen; Yokoi, Katsuyuki; Jung, Christine; de Jong, Pieter J; Freudenreich, Catherine H; McGoldrick, Philip; Yuen, Ryan K C; Abrahão, Agessandro; Keith, Julia; Zinman, Lorne; Robertson, Janice; Rogaeva, Ekaterina; Rouleau, Guy A; Kooy, R Frank; Pearson, Christopher E

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

XDP中的嵌合型发散重复序列中断会影响重复序列的稳定性以及疾病的发生

Trinh, Joanne; Lüth, Theresa; Schaake, Susen; Laabs, Björn-Hergen; Schlüter, Kathleen; Laβ, Joshua; Pozojevic, Jelena; Tse, Ronnie; König, Inke; Jamora, Roland Dominic; Rosales, Raymond L; Brüggemann, Norbert; Saranza, Gerard; Diesta, Cid Czarina E; Kaiser, Frank J; Depienne, Christel; Pearson, Christopher E; Westenberger, Ana; Klein, Christine

Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures

致病性 CANVAS 病原体而非非致病性 RFC1 DNA/RNA 重复序列基序形成四链体或三链体结构。

Abdi, Mohammad Hossein; Zamiri, Bita; Pazuki, Gholamreza; Sardari, Soroush; Pearson, Christopher E