Cherqui Stephanie相关文献与解析，生知库

Barshop, Bruce A; Ball, Edward D; Benador, Nadine; Trauner, Doris; Phillips, Susan; Dohil, Ranjan; Afshari, Natalie A; Roy, Sohini; Campo Fernandes, Beatriz; Kohn, Donald; Shayan, Katayoon; Everett, John K; Bushman, Frederic D; Midgley, Julian; Liang, Hong; Sawyers, Anne; Gangoiti, Jon A; Panchal, Maulik; Ahmed, Imama; Cherqui, Stephanie

细胞生物学

基因治疗

细胞基因治疗

Cystinosin regulates Na(+)/H(+) exchanger 3 trafficking and function in kidney proximal tubular cells

胱氨酸蛋白酶调节肾近端小管细胞中Na(+)/H(+)交换蛋白3的转运和功能。

期刊:EMBO Reports

影响因子:6.2

doi:10.1038/s44319-026-00736-1

Khare, Veenita; Farré, Jean-Claude; Ait Kbaich, Mouad; Rocca, Céline J; Tang, Cynthia; Ma, Xuan; Biederman, Kavya; Mathur, Ioli; Badell-Grau, Rafael A; Sivakumar, Anusha; Chen, Rola; Catz, Sergio D; Cherqui, Stephanie

细胞生物学

发表日期：2026

文献求助收藏

Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia.

在弗里德赖希共济失调模型中，小胶质细胞病变是神经元死亡的主要介质。

期刊:Nature Communications

影响因子:15.7

doi:10.1038/s41467-025-66710-y

Pernaci Carla, Johnson Avalon, Gillette Sydney, Warden Anna S, McCormick Chad, Weiser-Novak Sammy, Ramirez Gabriela, Broersma Emily H, Mishra Priyanka, Sivakumar Anusha, Cherqui Stephanie, Coufal Nicole G

Transplantation of Wild-Type Hematopoietic Stem and Progenitor Cells Improves Disease Phenotypes in a Mucopolysaccharidosis IIIC Mouse Model.

移植野生型造血干细胞和祖细胞可改善粘多糖贮积症 IIIC 小鼠模型的疾病表型

期刊:Cell Transplantation

影响因子:3.2

doi:10.1177/09636897251323966

Badell-Grau Rafael A, Pakravesh Kasra, Thai Kevin Eric, Son Frankie, Chen Rola, Rainaldi Joseph, Duong Kalvin, Losay Pauline, Sivakumar Anusha, Khare Veenita, Corl Alexis N, Pithia Rushil, Tran Christine, Esko Jefferey D, Cherqui Stephanie

Cystinosin is involved in Na(+)/H(+) Exchanger 3 trafficking in the proximal tubular cells: new insights in the renal Fanconi syndrome in cystinosis

胱氨酸蛋白酶参与近端肾小管细胞中Na(+)/H(+)交换蛋白3的转运：胱氨酸病肾范可尼综合征的新见解

期刊:

影响因子:

doi:10.1101/2025.02.12.637793

Khare, Veenita; Farre, Jean-Claude; Rocca, Celine; Kbaich, Mouad Ait; Tang, Cynthia; Ma, Xuan; Beiderman, Kavya; Mathur, Ioli; Badell-Grau, Rafael A; Sivakumar, Anusha; Chen, Rola; Catz, Sergio D; Cherqui, Stephanie

细胞生物学

发表日期：2025

文献求助收藏

Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich's Ataxia

基因治疗和基因编辑在弗里德赖希共济失调症治疗中的优势和局限性

期刊:Frontiers in Genome Editing

影响因子:4.4

doi:10.3389/fgeed.2022.903139

Sivakumar, Anusha; Cherqui, Stephanie

基因治疗

发表日期：2022

文献求助收藏

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside

胱氨酸病造血干细胞基因治疗：从实验室到临床

期刊:Cells

影响因子:5.2

doi:10.3390/cells10123273

Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model

景天庚酮糖激酶 (Shpk) 的缺乏并不影响造血干细胞在小鼠模型中挽救胱氨酸病的能力

期刊:Molecular Genetics and Metabolism

影响因子:3.5

doi:10.1016/j.ymgme.2021.11.006

Goodman, Spencer; Khan, Meisha; Sharma, Jay; Li, Zijie; Cano, Jose; Castellanos, Carlos; Estrada, Monica V; Gertsman, Ilya; Cherqui, Stephanie

Potential use of stem cells as a therapy for cystinosis

干细胞在胱氨酸病治疗中的潜在应用

期刊:Pediatric Nephrology

影响因子:2.6

doi:10.1007/s00467-018-3974-7

Rocca, Celine J; Cherqui, Stephanie

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

胱氨酸病合并肾性范可尼综合征：发病机制及治疗前景

期刊:Nature Reviews Nephrology

影响因子:39.8

doi:10.1038/nrneph.2016.182

Cherqui, Stephanie; Courtoy, Pierre J

发表日期：2017

文献求助收藏

Hematopoietic Stem-Cell Gene Therapy for Cystinosis

胱氨酸病的造血干细胞基因治疗

Cystinosin regulates Na(+)/H(+) exchanger 3 trafficking and function in kidney proximal tubular cells

胱氨酸蛋白酶调节肾近端小管细胞中Na(+)/H(+)交换蛋白3的转运和功能。

Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia.

在弗里德赖希共济失调模型中，小胶质细胞病变是神经元死亡的主要介质。

Transplantation of Wild-Type Hematopoietic Stem and Progenitor Cells Improves Disease Phenotypes in a Mucopolysaccharidosis IIIC Mouse Model.

移植野生型造血干细胞和祖细胞可改善粘多糖贮积症 IIIC 小鼠模型的疾病表型

Cystinosin is involved in Na(+)/H(+) Exchanger 3 trafficking in the proximal tubular cells: new insights in the renal Fanconi syndrome in cystinosis

胱氨酸蛋白酶参与近端肾小管细胞中Na(+)/H(+)交换蛋白3的转运：胱氨酸病肾范可尼综合征的新见解

Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich's Ataxia

基因治疗和基因编辑在弗里德赖希共济失调症治疗中的优势和局限性

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside

胱氨酸病造血干细胞基因治疗：从实验室到临床

Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model

景天庚酮糖激酶 (Shpk) 的缺乏并不影响造血干细胞在小鼠模型中挽救胱氨酸病的能力

Potential use of stem cells as a therapy for cystinosis

干细胞在胱氨酸病治疗中的潜在应用

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

胱氨酸病合并肾性范可尼综合征：发病机制及治疗前景