Tintos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

Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome

将ITPR1杂合变异的早期儿童期表现扩展到先天性共济失调和吉莱斯皮综合征之外

期刊:Neurology-Genetics

影响因子:3.7

doi:10.1212/NXG.0000000000200328

Terry, Lara E; Dubbs, Holly; Markwalter, Kelly H; Malik, Sundeep; Tintos-Hernandez, Jesus A; Yule, David I; Ortiz-Gonzalez, Xilma R

发表日期：2026

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TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons.

TBCK 缺乏会导致患者来源的神经元中出现区室特异性 mRNA 和溶酶体运输缺陷

doi:10.1101/2025.03.02.641041

Flores-Mendez Marco, Tintos-HernÃ¡ndez Jesus A, Ramos-Rodriguez Leonardo, Miles Leann, Lo Tsz Y, Song Yuanquan, Ortiz-GonzÃ¡lez Xilma R

发表日期：2025

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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

铁蛋白重链基因 FTH1 中的杂合无义变异导致神经铁蛋白病

期刊:HGG Advances

影响因子:3.3

doi:10.1016/j.xhgg.2023.100236

Joseph T Shieh, Jesus A Tintos-Hernandez, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz

发表日期：2023

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Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

铁蛋白重链基因 FTH1 中的杂合无义变异导致一种新型儿童神经铁蛋白病

doi:10.1101/2023.01.30.23285099

Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz

发表日期：2023

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Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy

溶酶体功能障碍会损害线粒体质量控制，并与TBCK脑神经病中的神经退行性变有关。

期刊:Brain Communications

影响因子:4.1

doi:10.1093/braincomms/fcab215

Jesus A Tintos-Hernández ，Adrian Santana ，Kierstin N Keller ，Xilma R Ortiz-González

溶酶体功能

发表日期：2021

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Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy

纯合的波多黎各 TBCK 突变导致神经退行性病变和异常自噬

期刊:Annals of Neurology

影响因子:8.1

doi:10.1002/ana.25130

Xilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A Reghan Foley, Diana X Bharucha-Goebel, Sudha K Kessler, Sabrina W Yum, Peter B Crino, Miao He, Douglas C Wallace, Carsten G Bönnemann

细胞生物学

发表日期：2018

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NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states

NIPBL+/- 单倍体不足揭示了多能性和心脏状态下的一系列转录组破坏

期刊:Scientific Reports

影响因子:3.8

doi:10.1038/s41598-018-19173-9

Jason A Mills, Pamela S Herrera, Maninder Kaur, Lanfranco Leo, Deborah McEldrew, Jesus A Tintos-Hernandez, Ramakrishnan Rajagopalan, Alyssa Gagne, Zhe Zhang, Xilma R Ortiz-Gonzalez, Ian D Krantz3

发表日期：2018

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Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: Report of a novel mutation

对三名墨西哥遗传性球形红细胞症患者的SLC4A1基因进行分析：一项新突变的报告

期刊:Genetics and Molecular Biology

影响因子:1.3

doi:10.1590/S1415-47572009005000109

Sánchez-López, Josefina Y; Camacho-Torres, Ana L; Ibarra, Bertha; Tintos, Jesús A; Perea, Francisco J

细胞生物学

发表日期：2010

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