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

MEP Pathway: First-Synthesized IspH-Directed Prodrugs with Potent Antimycobacterial Activity

MEP途径:首个合成的具有强效抗分枝杆菌活性的IspH导向前药

Allamand, Alizée; Noël-Duchesneau, Ludovik; Ettelbruck, Cédric; De Luna, Edgar; Lièvremont, Didier; Grosdemange-Billiard, Catherine

Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.

Col6a1 敲入小鼠为胶原蛋白 VI 相关营养不良症提供了一个有前景的临床前模型。

López-Márquez Arístides, Badosa Carmen, Enjuanes-Ruiz Lluis, Hernández-Carabias Patricia, Sánchez-Martín Manuel, Cadot Bruno, Guesmia Zoheir, Georvasilis Ioannis, Balsells Sol, Blanco-Ramos Marcos, Puighermanal Emma, Quintana Albert, Roldán Mònica, Allamand Valérie, Jiménez-Mallebrera Cecilia

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis

SPNS1 变异会导致多器官疾病,并表明溶血磷脂转运对于 mTOR 调节的脂质稳态至关重要。

He, Menglan; Ding, Mei; Chocholouskova, Michaela; Chin, Cheen Fei; Engvall, Martin; Malmgren, Helena; Wagner, Matias; Lauffer, Marlen C; Heisinger, Jacob; Malicdan, May Christine V; Allamand, Valerie; Durbeej, Madeleine; Delgado Vega, Angelica; Sejersen, Thomas; Nordgren, Ann; Torta, Federico; Silver, David L

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

Editorial: Extracellular matrix in homeostasis and cancer

社论:细胞外基质在稳态和癌症中的作用

Carlos, Ana Rita; Allamand, Valérie

Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene

由于 COL6A1 基因的新突变导致的 VI 型胶原相关肌病的家族内表型变异

Sergey N Bardakov, Roman V Deev, Raisat M Magomedova, Zoya R Umakhanova, Valérie Allamand, Corine Gartioux, Kamil Z Zulfugarov, Patimat G Akhmedova, Vadim A Tsargush, Angelina A Titova, Mikhail O Mavlikeev, Vadim L Zorin, Ekaterina N Chernets, Gimat D Dalgatov, Fedor A Konovalov, Artur A Isaev

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder

一个具有过度活动型埃勒斯-丹洛斯综合征临床特征的家族中出现了一种新的 COL1A1 变异,该变异被证实是一种与 COL1 相关的重叠疾病

Malika Foy, Philippe De Mazancourt, Corinne Métay, Robert Carlier, Valérie Allamand, Corine Gartioux, Fabrice Gillas, Nawel Miri, Valérie Jobic, Ahmed Mekki, Pascale Richard, Caroline Michot, Karelle Benistan

Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy

抗氧化剂可减轻 dy2J/dy2J 小鼠模型(层粘连蛋白 α2 链缺乏型肌营养不良症)中的肌营养不良症

Vahid M Harandi, Bernardo Moreira Soares Oliveira, Valérie Allamand, Ariana Friberg, Cibely C Fontes-Oliveira, Madeleine Durbeej

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

COL6A1假外显子插入的复发会导致肌营养不良,而剪接校正疗法可以有效治疗这种疾病。

Bolduc, Véronique; Foley, A Reghan; Solomon-Degefa, Herimela; Sarathy, Apurva; Donkervoort, Sandra; Hu, Ying; Chen, Grace S; Sizov, Katherine; Nalls, Matthew; Zhou, Haiyan; Aguti, Sara; Cummings, Beryl B; Lek, Monkol; Tukiainen, Taru; Marshall, Jamie L; Regev, Oded; Marek-Yagel, Dina; Sarkozy, Anna; Butterfield, Russell J; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Li, Yan; Gartioux, Corine; Mamchaoui, Kamel; Allamand, Valérie; Gualandi, Francesca; Ferlini, Alessandra; Hanssen, Eric; Wilton, Steve D; Lamandé, Shireen R; MacArthur, Daniel G; Wagener, Raimund; Muntoni, Francesco; Bönnemann, Carsten G