Saccuzzo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

De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder

ARHGAP32基因的新生突变证实了GTP酶激活蛋白（RhoGAP家族）与特发性自闭症谱系障碍的关联。

期刊:Frontiers in Psychiatry

影响因子:3.2

doi:10.3389/fpsyt.2026.1754241

Cirnigliaro, Lara; Saccuzzo, Lucia; Marzà, Viviana; Randazzo, Martina; Perdichizzi, Maria; Romano, Corrado; Fichera, Marco; Rizzo, Renata; Barone, Rita

发表日期：2026

文献求助收藏

PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?

PPP5C致病变异体被发现：这是深入了解发育性和癫痫性脑病的一个潜在关键吗？

期刊:Molecular and Cellular Pediatrics

影响因子:3.4

doi:10.1186/s40348-025-00191-3

Falsaperla, Raffaele; Sapuppo, Annamaria; Pappalardo, Xena Giada; Rizzo, Roberta; Rocca, Roberta; Fusto, Gaia; Marino, Silvia; Sortino, Vincenzo; Saccuzzo, Lucia; Ruggieri, Martino; Fichera, Marco

发育与干细胞

发表日期：2025

文献求助收藏

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

染色体碎裂易位 t(1;18)：一名智力发育正常且患有吡哆醇依赖性癫痫的儿童的基因组复杂性范例。

影响因子:2.8

doi:10.3390/genes16111334

Falsaperla Raffaele, Salvo Eliana, Sapuppo Annamaria, Barberi Chiara, Sortino Vincenzo, Fusto Gaia, Rizzo Roberta, Pappalardo Xena Giada, Corsello Giovanni, Ruggieri Martino, Romano Catia, Saccuzzo Lucia, Fichera Marco, Bonaglia Maria Clara

发育与干细胞

发表日期：2025

文献求助收藏

Competition between inside-out unfolding and pathogenic aggregation in an amyloid-forming β-propeller

淀粉样蛋白形成β-螺旋桨中由内而外的展开与致病聚集之间的竞争

期刊:Nature Communications

影响因子:14.7

doi:10.1038/s41467-023-44479-2

Emily G Saccuzzo #, Mubark D Mebrat #, Hailee F Scelsi, Minjoo Kim, Minh Thu Ma, Xinya Su, Shannon E Hill, Elisa Rheaume, Renhao Li, Matthew P Torres, James C Gumbart, Wade D Van Horn, Raquel L Lieberman0

发表日期：2024

文献求助收藏

A molecular view of peptoid-induced acceleration of calcite growth

从分子层面看肽类物质诱导方解石生长加速

期刊:Proceedings of the National Academy of Sciences of the United States of America

影响因子:9.1

doi:10.1073/pnas.2412358121

Zhang, Mingyi; Chen, Ying; Wu, Chunhui; Zheng, Renyu; Xia, Ying; Saccuzzo, Emily G; Trinh, Thi Kim Hoang; Mondarte, Evan Angelo Quimada; Nakouzi, Elias; Rad, Behzad; Legg, Benjamin A; Shaw, Wendy J; Tao, Jinhui; De Yoreo, James J; Chen, Chun-Long

发表日期：2024

文献求助收藏

Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis

通过全外显子组测序分析揭示混合表型中的继发突变：ERCC4 和 OTOA 双重致病变异

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms252413471

Failla, Pinella; Saccuzzo, Lucia; Galesi, Ornella; Greco, Donatella; Barresi, Vincenza; Amata, Silvestra; Romano, Corrado; Fichera, Marco

发表日期：2024

文献求助收藏

Evidence for S331-G-S-L within the amyloid core of myocilin olfactomedin domain fibrils based on low-resolution 3D solid-state NMR spectra

基于低分辨率 3D 固态 NMR 光谱的 Myocilin 嗅球蛋白结构域原纤维淀粉样蛋白核心内存在 S331-GSL 的证据

doi:10.1101/2024.08.09.606901

Emily G Saccuzzo, Alicia S Robang, Yuan Gao, Bo Chen, Raquel L Lieberman, Anant K Paravastu

发表日期：2024

文献求助收藏

Myocilin misfolding and glaucoma: A 20-year update

肌纤蛋白错误折叠与青光眼：20 年最新进展

期刊:Progress in Retinal and Eye Research

影响因子:14.7

doi:10.1016/j.preteyeres.2023.101188

Saccuzzo, Emily G; Youngblood, Hannah A; Lieberman, Raquel L

发表日期：2023

文献求助收藏

Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting

图雷特综合征患儿的拷贝数变异：临床环境下的系统性研究

影响因子:2.8

doi:10.3390/genes14020500

Saia, Federica; Prato, Adriana; Saccuzzo, Lucia; Madia, Francesca; Barone, Rita; Fichera, Marco; Rizzo, Renata

发表日期：2023

文献求助收藏

Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

基于性状的2p15p16.1微缺失综合征分析表明，候选基因之间存在复杂的相互作用模式。

期刊:Genes & Genomics

影响因子:1.7

doi:10.1007/s13258-023-01369-7

Miceli, Martina; Failla, Pinella; Saccuzzo, Lucia; Galesi, Ornella; Amata, Silvestra; Romano, Corrado; Bonaglia, Maria Clara; Fichera, Marco

发表日期：2023

文献求助收藏