SMN1相关文献与解析，生知库 | 链接生命科学的每一步

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

通过SMA新生儿筛查假阳性结果识别出的SMN1变异：治疗难题及功能和流行病学解决方案

doi:10.1016/j.ajhg.2026.01.012

Wirth, Brunhilde; Das, Joyosmita; Kölbel, Heike; Goh, Shuxiang; Farrar, Michelle A; Piano, Valentina; Zetzsche, Sebastian; Fuhrmann, Nico; Becker, Jutta; Karakaya, Mert; Zhang, Yougang; Cao, Yuqing; Taghipour-Sheshdeh, Afsaneh; Stringer, Brett W; Giacomotto, Jean

A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review

由SMN1基因缺失引起的伴腓肠肌假性肥大的IV型脊髓性肌萎缩症：病例报告及文献综述

期刊:BMC Neurology

影响因子:2.2

doi:10.1186/s12883-025-04619-1

Xi, Hu; He, Wangsheng; Jiang, Hailin; Xie, Wenting; Yang, Yue; Yang, Yulong; Diao, Ke; Yang, Wenming; Li, Hao

First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

首次对摩洛哥脊髓性肌萎缩症（SMA）患者的SMN1、SMN2和NAIP拷贝数进行联合分析，并探讨其与疾病严重程度的相关性

期刊:Molecular Genetics and Metabolism Reports

影响因子:1.9

doi:10.1016/j.ymgmr.2026.101299

Nmer, Samira; Trhanint, Said; Sayel, Hanane; Chaouki, Sana; Bouguenouch, Laila; Ouldim, Karim

Astrocyte targeted SMN1 gene therapy and forskolin application improves astrocyte filopodia actin defects and motor neuron synaptic dysfunction in human SMA disease pathology

星形胶质细胞靶向SMN1基因治疗和福斯克林应用可改善人类SMA疾病病理中的星形胶质细胞丝状伪足肌动蛋白缺陷和运动神经元突触功能障碍

期刊:

影响因子:

doi:10.64898/2026.03.26.714618

Welby, Emily; Liu, Xiaojie; Wojtkiewicz, Melinda; Luecke, Linda Berg; Gundry, Rebekah L; Liu, Qing-Song; Ebert, Allison D

Nutrient control of splice site selection contributes to methionine addiction of cancer

营养控制剪接位点的选择导致癌症对蛋氨酸的依赖

期刊:Molecular Metabolism

影响因子:7

doi:10.1016/j.molmet.2025.102103

Da-Wei Lin, Francisco G Carranza, Stacey Borrego, Linda Lauinger, Lucas Dantas de Paula, Harika R Pulipelli, Anna Andronicos, Klemens J Hertel, Peter Kaiser

Gene therapy for spinal muscular atrophy: perspectives on the possibility of optimizing SMN1 delivery to correct all neurological and systemic perturbations

脊髓性肌萎缩症的基因治疗：优化SMN1递送以纠正所有神经和系统性紊乱的可能性展望

期刊:Neural Regeneration Research

影响因子:6.7

doi:10.4103/NRR.NRR-D-24-00504

Brown, Sharon J; Yáñez-Muñoz, Rafael J; Fuller, Heidi R

Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening

探讨SMN1基因重复和缺失在俄罗斯的流行情况及其对携带者筛查的影响

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms26051984

Mikhalchuk, Kristina; Polyakov, Aleksander; Zabnenkova, Viktoria V; Ismagilova, Olga; Shchagina, Olga

Validation on the First-Tier Fully Automated High-Throughput SMN1, SMN2, TREC, and RPP30 Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

利用四重液滴数字PCR技术对新生儿脊髓性肌萎缩症和重症联合免疫缺陷进行筛查，验证第一级全自动高通量SMN1、SMN2、TREC和RPP30定量检测方法

期刊:International Journal of Neonatal Screening

影响因子:4

doi:10.3390/ijns11040097

Mak, Chloe Miu; Ho, Timothy Yiu Cheong; Yip, Man Kwan; Song, Felicite Enyu; Tam, Raymond Chiu Mo; Yu, Leanne Wing Ying; Ke, Ann Anhong; Law, Eric Chun Yiu; Chan, Toby Chun Hei; Yeung, Matthew Chun Wing

Comparative study of third-generation sequencing-based CASMA-trio and STR linkage analysis for identifying SMN1 2 + 0 carriers

基于第三代测序的CASMA-trio和STR连锁分析在SMN1 2+0携带者鉴定中的比较研究

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-025-90603-1

He, Jianchun; He, Wenzhi; Xian, Jiajia; Wang, Yanchao; Ma, Xiaoyan; Lin, Shuangru; Chen, Jianfan; Xu, Gaoyuan; Chen, Qingqing; Li, Qing; Li, Shaoying

Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA

斑马鱼在基因变异检测中的临床意义：SMN1/SMA 的原理验证

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

通过SMA新生儿筛查假阳性结果识别出的SMN1变异：治疗难题及功能和流行病学解决方案

A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review

由SMN1基因缺失引起的伴腓肠肌假性肥大的IV型脊髓性肌萎缩症：病例报告及文献综述

First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity

首次对摩洛哥脊髓性肌萎缩症（SMA）患者的SMN1、SMN2和NAIP拷贝数进行联合分析，并探讨其与疾病严重程度的相关性

Astrocyte targeted SMN1 gene therapy and forskolin application improves astrocyte filopodia actin defects and motor neuron synaptic dysfunction in human SMA disease pathology

星形胶质细胞靶向SMN1基因治疗和福斯克林应用可改善人类SMA疾病病理中的星形胶质细胞丝状伪足肌动蛋白缺陷和运动神经元突触功能障碍

Nutrient control of splice site selection contributes to methionine addiction of cancer

营养控制剪接位点的选择导致癌症对蛋氨酸的依赖

Gene therapy for spinal muscular atrophy: perspectives on the possibility of optimizing SMN1 delivery to correct all neurological and systemic perturbations

脊髓性肌萎缩症的基因治疗：优化SMN1递送以纠正所有神经和系统性紊乱的可能性展望

Exploring the Prevalence of SMN1 Duplication and Deletion in Russia and Its Impact on Carrier Screening

探讨SMN1基因重复和缺失在俄罗斯的流行情况及其对携带者筛查的影响

Validation on the First-Tier Fully Automated High-Throughput SMN1, SMN2, TREC, and RPP30 Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

利用四重液滴数字PCR技术对新生儿脊髓性肌萎缩症和重症联合免疫缺陷进行筛查，验证第一级全自动高通量SMN1、SMN2、TREC和RPP30定量检测方法

Comparative study of third-generation sequencing-based CASMA-trio and STR linkage analysis for identifying SMN1 2 + 0 carriers

基于第三代测序的CASMA-trio和STR连锁分析在SMN1 2+0携带者鉴定中的比较研究