Heckel Anne-Marie相关文献与解析，生知库

Anti-replicative recombinant 5S rRNA molecules can modulate the mtDNA heteroplasmy in a glucose-dependent manner.

抗复制重组 5S rRNA 分子可以以葡萄糖依赖的方式调节 mtDNA 异质性

期刊:PLoS One

影响因子:2.6

doi:10.1371/journal.pone.0199258

Loutre Romuald, Heckel Anne-Marie, Jeandard Damien, Tarassov Ivan, Entelis Nina

发表日期：2018

文献求助收藏

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

PNPT1基因编码一种多核糖核苷酸核苷酸转移酶，该基因突变会损害RNA输入线粒体，导致呼吸链功能障碍。

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2012.09.001

Vedrenne, Vanessa; Gowher, Ali; De Lonlay, Pascale; Nitschke, Patrick; Serre, Valérie; Boddaert, Nathalie; Altuzarra, Cecilia; Mager-Heckel, Anne-Marie; Chretien, Florence; Entelis, Nina; Munnich, Arnold; Tarassov, Ivan; Rötig, Agnès

Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.

通过 tRNA 导入线粒体来纠正 MT-TL1 基因中导致 MELAS 综合征的线粒体 3243A>G 突变的后果

期刊:Nucleic Acids Research

影响因子:13.1

doi:10.1093/nar/gkr546

Karicheva Olga Z, Kolesnikova Olga A, Schirtz Tom, Vysokikh Mikhail Y, Mager-Heckel Anne-Marie, LombÃ¨s Anne, Boucheham Abdeldjalil, Krasheninnikov Igor A, Martin Robert P, Entelis Nina, Tarassov Ivan

线粒体

发表日期：2011

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Acute infantile liver failure due to mutations in the TRMU gene

由TRMU基因突变引起的婴儿急性肝衰竭

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2009.08.004

Zeharia, Avraham; Shaag, Avraham; Pappo, Orit; Mager-Heckel, Anne-Marie; Saada, Ann; Beinat, Marine; Karicheva, Olga; Mandel, Hanna; Ofek, Noa; Segel, Reeval; Marom, Daphna; Rötig, Agnes; Tarassov, Ivan; Elpeleg, Orly

Two distinct structural elements of 5S rRNA are needed for its import into human mitochondria.

5S rRNA 进入人类线粒体需要两种不同的结构元件

期刊:RNA

影响因子:5

doi:10.1261/rna.952208

Smirnov Alexandre, Tarassov Ivan, Mager-Heckel Anne-Marie, Letzelter Michel, Martin Robert P, Krasheninnikov Igor A, Entelis Nina

Targeted deletions in human mitochondrial DNA engineered by Type V CRISPR-Cas12a system

利用V型CRISPR-Cas12a系统对人类线粒体DNA进行靶向敲除

Anti-replicative recombinant 5S rRNA molecules can modulate the mtDNA heteroplasmy in a glucose-dependent manner.

抗复制重组 5S rRNA 分子可以以葡萄糖依赖的方式调节 mtDNA 异质性

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

PNPT1基因编码一种多核糖核苷酸核苷酸转移酶，该基因突变会损害RNA输入线粒体，导致呼吸链功能障碍。

Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria.

通过 tRNA 导入线粒体来纠正 MT-TL1 基因中导致 MELAS 综合征的线粒体 3243A>G 突变的后果

Acute infantile liver failure due to mutations in the TRMU gene

由TRMU基因突变引起的婴儿急性肝衰竭

Two distinct structural elements of 5S rRNA are needed for its import into human mitochondria.

5S rRNA 进入人类线粒体需要两种不同的结构元件