日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Effects of CoQ10 Replacement Therapy on the Audiological Characteristics of Pediatric Patients with COQ6 Variants

辅酶Q10替代疗法对COQ6变异儿童患者听力特征的影响

Nam, Dong Woo; Park, Sang Soo; Lee, So Min; Suh, Myung-Whan; Park, Moo Kyun; Song, Jae-Jin; Choi, Byung Yoon; Lee, Jun Ho; Oh, Seung Ha; Moon, Kyung Chul; Ahn, Yo Han; Kang, Hee Gyung; Cheong, Hae Il; Kim, Ji Hyun; Lee, Sang-Yeon

Implication of folate deficiency in CYP2U1 loss of function

叶酸缺乏与 CYP2U1 功能丧失的关系

Claire Pujol, Anne Legrand #, Livia Parodi #, Priscilla Thomas, Fanny Mochel, Dario Saracino, Giulia Coarelli, Marijana Croon, Milica Popovic, Manon Valet, Nicolas Villain, Shahira Elshafie, Mahmoud Issa, Stephane Zuily, Mathilde Renaud, Cécilia Marelli-Tosi, Marine Legendre, Aurélien Trimouille, Is

A Family Segregating Lethal Primary Coenzyme Q10 Deficiency Due to Two Novel COQ6 Variants

一个家族因两种新型COQ6变异而出现致死性原发性辅酶Q10缺乏症

Wang, Na; Zheng, Youmin; Zhang, Lingzi; Tian, Xiong; Fang, Yicheng; Qi, Ming; Du, Juping; Chen, Shuaishuai; Chen, Shiyong; Li, Jun; Shen, Bo; Wang, Lizhen

COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy

COQ6 突变与肾病综合征、感觉神经性耳聋和视神经萎缩患者相关

Justine Perrin, R; Rousset-Rouvière, Caroline; Garaix, Florentine; Cano, Aline; Conrath, John; Boyer, Olivia; Tsimaratos, Michel

Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice

使用 2,4-二羟基苯甲酸治疗可预防足细胞特异性 Coq6 基因敲除小鼠的 FSGS 进展和肾纤维化

Eugen Widmeier, Merlin Airik, Hannah Hugo, David Schapiro, Johannes Wedel, Chandra C Ghosh, Makiko Nakayama, Ronen Schneider, Agape M Awad, Anish Nag, Jang Cho, Markus Schueler, Catherine F Clarke, Rannar Airik, Friedhelm Hildebrandt

Reduction in the levels of CoQ biosynthetic proteins is related to an increase in lifespan without evidence of hepatic mitohormesis

CoQ 生物合成蛋白水平的降低与寿命的延长有关,且没有肝线粒体兴奋作用的证据

María Rodríguez-Hidalgo, Marta Luna-Sánchez, Agustín Hidalgo-Gutiérrez, Eliana Barriocanal-Casado, Cristina Mascaraque, Darío Acuña-Castroviejo, Margarita Rivera, Germaine Escames, Luis C López

The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene

辅酶 Q10 缺乏症的临床异质性是由 Coq9 基因的基因型差异引起的

Marta Luna-Sánchez, Elena Díaz-Casado, Emanuele Barca, Miguel Ángel Tejada, Ángeles Montilla-García, Enrique Javier Cobos, Germaine Escames, Dario Acuña-Castroviejo, Catarina M Quinzii, Luis Carlos López

A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis

COQ6基因的种系错义突变与家族性神经鞘瘤病的易感性相关。

Zhang, Keqiang; Lin, Jia-Wei; Wang, Jinhui; Wu, Xiwei; Gao, Hanlin; Hsieh, Yi-Chen; Hwu, Peter; Liu, Yun-Ru; Su, Leila; Chiou, Hung-Yi; Wang, Daidong; Yuan, Yate-Ching; Whang-Peng, Jacqueline; Chiu, Wen-Ta; Yen, Yun

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

香草酸对辅酶Q10缺乏症患者体内发现的COQ6突变体的影响

Doimo, Mara; Trevisson, Eva; Airik, Rannar; Bergdoll, Marc; Santos-Ocaña, Carlos; Hildebrandt, Friedhelm; Navas, Placido; Pierrel, Fabien; Salviati, Leonardo