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

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

罕见基因变异会增加患注意力缺陷多动障碍(ADHD)的风险,并与神经元生物学有关。

Demontis, Ditte; Duan, Jinjie; Hsu, Yu-Han H; Pintacuda, Greta; Grove, Jakob; Nielsen, Trine Tollerup; Thirstrup, Janne; Martorana, Makayla; Botts, Travis; Satterstrom, F Kyle; Bybjerg-Grauholm, Jonas; Tsai, Jason H Y; Glerup, Simon; Hoogman, Martine; Buitelaar, Jan; Klein, Marieke; Ziegler, Georg C; Jacob, Christian; Grimm, Oliver; Bayas, Maximilian; Kobayashi, Nene F; Kittel-Schneider, Sarah; Lesch, Klaus-Peter; Franke, Barbara; Reif, Andreas; Agerbo, Esben; Werge, Thomas; Nordentoft, Merete; Mors, Ole; Mortensen, Preben Bo; Lage, Kasper; Daly, Mark J; Neale, Benjamin M; Børglum, Anders D

A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity.

在一个患有 ADHD 的家庭中发现了一种低频有害的 SORCS2 变异,这种变异会损害受体稳定性并抑制其活性。

Kaas Mathias, Dinesen Sarah Broholt, Ahlgreen Ole, Madsen Peder, Mølgaard Simon, Dalby Anders, Gustafsen Camilla, Olsen Ditte, Duan Jinjie, Vilstrup Joachim, Lende Jonas, Nordestgaard Sanne, Zayats Tetyana, Knappskog Per Morten, Johansson Stefan, Neckelmann Gesche, Franke Barbara, Thirup Søren, Børglum Anders, Reif Andreas, Vægter Christian, Demontis Ditte, Haavik Jan, Glerup Simon, Skeldal Sune

A triple serine motif in the intracellular domain of SorCS2 impacts its cellular signaling.

SorCS2 细胞内结构域中的三丝氨酸基序会影响其细胞信号传导

Dalby Anders, Kaas Mathias, Meinertz Byg Lars, Christiansen Signe Bundgaard, Longworth Christian M, Hansen Simon Bøggild, Qvist Per, Nyengaard Jens R, Madsen Peder, Mølgaard Simon, Glerup Simon

Rare missense variants of the leukocyte common antigen related receptor (LAR) display reduced activity in transcellular adhesion and synapse formation

白细胞共同抗原相关受体 (LAR) 的罕见错义变异体在跨细胞黏附和突触形成方面活性降低。

Kaas, Mathias; Chofflet, Nicolas; Bicer, Deniz; Skeldal, Sune; Duan, Jinjie; Feller, Benjamin; Vilstrup, Joachim; Groth, Rosa; Sivagurunathan, Suganya; Dashti, Hesam; Pedersen, Jan Skov; Werge, Thomas; Børglum, Anders D; Cimini, Beth A; Jones, Thouis R; Claussnitzer, Melina; Madsen, Peder; Takahashi, Hideto; Demontis, Ditte; Thirup, Søren; Glerup, Simon

Rare missense variants of the leukocyte common antigen related receptor (LAR) display reduced activity in transcellular adhesion and synapse formation.

白细胞共同抗原相关受体 (LAR) 的罕见错义变异体在跨细胞粘附和突触形成中表现出活性降低

Kaas Mathias, Chofflet Nicolas, Bicer Deniz, Skeldal Sune, Duan Jinjie, Feller Benjamin, Vilstrup Joachim, Groth Rosa, Sivagurunathan Suganya, Dashti Hesam, Pedersen Jan Skov, Werge Thomas, Børglum Anders D, Cimini Beth A, Jones Thouis R, Claussnitzer Melina, Madsen Peder, Takahashi Hideto, Demontis Ditte, Thirup Søren, Glerup Simon

APOE4-mediated amyloid-β pathology depends on its neuronal receptor LRP1

APOE4介导的β-淀粉样蛋白病理依赖于其神经元受体LRP1。

Tachibana, Masaya; Holm, Marie-Louise; Liu, Chia-Chen; Shinohara, Mitsuru; Aikawa, Tomonori; Oue, Hiroshi; Yamazaki, Yu; Martens, Yuka A; Murray, Melissa E; Sullivan, Patrick M; Weyer, Kathrin; Glerup, Simon; Dickson, Dennis W; Bu, Guojun; Kanekiyo, Takahisa

Reduced Alcohol Seeking and Withdrawal Symptoms in Mice Lacking the BDNF Receptor SorCS2

缺乏 BDNF 受体 SorCS2 的小鼠酒精渴求和戒断症状减轻

Olsen, Ditte; Kaas, Mathias; Lundhede, Jesper; Molgaard, Simon; Nykjær, Anders; Kjolby, Mads; Østergaard, Søren D; Glerup, Simon

Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2

风险位点识别将酒精戒断症状与 SORCS2 联系起来

Smith, Andrew H; Ovesen, Peter L; Skeldal, Sune; Yeo, Seungeun; Jensen, Kevin P; Olsen, Ditte; Diazgranados, Nancy; Zhao, Hongyu; Farrer, Lindsay A; Goldman, David; Glerup, Simon; Kranzler, Henry R; Nykjaer, Anders; Gelernter, Joel