Helen May-Simera相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

LCA5 相关莱伯先天性黑蒙的基因增强可改善感光器睫状轴丝的凸起区域缺陷

期刊:JCI Insight

影响因子:6.3

doi:10.1172/jci.insight.169162

Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Helen May-Simera, Marius Ueffing, Rob Wj Collin, Karsten Boldt, Paul Guichard, Virginie Hamel, Ronald Roepman

发表日期：2023

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Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

纤毛病基因 BBS2 和 ALMS1 的翻译读通可恢复患者成纤维细胞中的蛋白质、纤毛发生和功能

期刊:EBioMedicine

影响因子:9.7

doi:10.1016/j.ebiom.2021.103515

Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee

细胞生物学

成纤维细胞

发表日期：2021

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Primary Cilia Structure Is Prolonged in Enteric Neurons of 5xFAD Alzheimer's Disease Model Mice

5xFAD 阿尔茨海默病模型小鼠的肠道神经元中的初级纤毛结构延长

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms222413564

Vu Thu Thuy Nguyen, Lena Brücker, Ann-Kathrin Volz, Julia C Baumgärtner, Malena Dos Santos Guilherme, Francesco Valeri, Helen May-Simera, Kristina Endres

阿尔茨海默症

发表日期：2021

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RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry

RPGR 蛋白复合物调节蛋白酶体活性并介导钙池操纵的钙内流

期刊:Oncotarget

doi:10.18632/oncotarget.25259

Sarita Rani Patnaik, Xun Zhang, Lincoln Biswas, Saeed Akhtar, Xinzhi Zhou, Deva Krupakar Kusuluri, James Reilly, Helen May-Simera, Susan Chalmers, John G McCarron, Xinhua Shu

发表日期：2018

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Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis

纤毛病相关基因 Cc2d2a 在纤毛生物发生过程中促进母中心粒上亚远端附属物的组装

期刊:Nature Communications

影响因子:14.7

doi:10.1038/ncomms5207

Shobi Veleri, Souparnika H Manjunath, Robert N Fariss, Helen May-Simera, Matthew Brooks, Trevor A Foskett, Chun Gao, Teresa A Longo, Pinghu Liu, Kunio Nagashima, Rivka A Rachel, Tiansen Li, Lijin Dong, Anand Swaroop

发表日期：2014

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Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a

小鼠中无效和次等位基因 Prickle1 表现出与人类 Robinow 综合征相似的表型，并破坏 Wnt5a 下游的信号传导

期刊:Biology Open

影响因子:1.8

doi:10.1242/bio.20148375

Chunqiao Liu, Chen Lin, Chun Gao, Helen May-Simera, Anand Swaroop, Tiansen Li

发表日期：2014

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Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization

Bardet-Biedl 综合征蛋白通过调节肌动蛋白聚合来控制纤毛长度

期刊:Human Molecular Genetics

影响因子:3.1

doi:10.1093/hmg/ddt241

Victor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, Helen May-Simera, Dagan Jenkins, Martin Knight, Philip L Beales

发表日期：2013

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