Alessandra Torraco相关文献与解析，生知库

Andrew Y Sung ,Rachel M Guerra ,Laura H Steenberge ,Charlotte L Alston ,Kei Murayama ,Yasushi Okazaki ,Masaru Shimura ,Holger Prokisch ,Daniele Ghezzi ,Alessandra Torraco ,Rosalba Carrozzo ,Agnès Rötig ,Robert W Taylor ,James L Keck ,David J Pagliarini

线粒体

发表日期：2024

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The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity

与共济失调相关的 E1081Q 突变通过调节 PMCA3 活性来影响亚质膜 Ca2+ 微区

期刊:Cell Death & Disease

影响因子:8.1

doi:10.1038/s41419-022-05300-y

Francesca Vallese, Lorenzo Maso, Flavia Giamogante, Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Raffaele Lopreiato, Laura Cendron, Lorella Navazio, Ginevra Zanni, Yvonne Weber, Tatjana Kovacevic-Preradovic, Boris Keren, Alessandra Torraco, Rosalba Carrozzo, Francesco Peretto, Caterina Peggion, St

信号转导

发表日期：2022

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A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature

COX5A 中的一种新型纯合变异会导致发育不良、乳酸性酸中毒、低血糖和身材矮小等弱化表型

期刊:Clinical Genetics

影响因子:2.9

doi:10.1111/cge.14127

Alessandra Torraco, Silvia Morlino, Teresa Rizza, Michela Di Nottia, Giorgia Bottaro, Luigi Bisceglia, Arianna Montanari, Marco Cappa, Marco Castori, Enrico Bertini, Rosalba Carrozzo

信号转导

发表日期：2022

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Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation

新的 NDUFA12 变异与单独的复合物 I 缺陷和可变的临床表现相关

期刊:Human Mutation

影响因子:3.3

doi:10.1002/humu.24195

Alessandra Torraco, Alessia Nasca, Daniela Verrigni, Alessandra Pennisi, Maha S Zaki, Giorgia Olivieri, Zahra Assouline, Diego Martinelli, Reza Maroofian, Teresa Rizza, Michela Di Nottia, Federica Invernizzi, Eleonora Lamantea, Daniela Longo, Henry Houlden, Holger Prokisch, Agnès Rötig, Carlo Dionis

信号转导

发表日期：2021

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ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

婴儿期白质营养不良患者的 ISCA1 突变导致线粒体 [4Fe-4S] 蛋白缺陷

期刊:Human Molecular Genetics

影响因子:3.1

doi:10.1093/hmg/ddy273

Alessandra Torraco, Oliver Stehling, Claudia Stümpfig, Ralf Rösser, Domenico De Rasmo, Giuseppe Fiermonte, Daniela Verrigni, Teresa Rizza, Angelo Vozza, Michela Di Nottia, Daria Diodato, Diego Martinelli, Fiorella Piemonte, Carlo Dionisi-Vici, Enrico Bertini, Roland Lill, Rosalba Carrozzo

信号转导

发表日期：2018

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Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

线粒体延长因子 EF-Tu 的新突变与发育不良性白质脑病和线粒体 DNA 翻译缺陷有关

期刊:Biochimica et Biophysica Acta-Molecular Basis of Disease

影响因子:4.2

doi:10.1016/j.bbadis.2017.01.022

Michela Di Nottia, Arianna Montanari, Daniela Verrigni, Romina Oliva, Alessandra Torraco, Erika Fernandez-Vizarra, Daria Diodato, Teresa Rizza, Marzia Bianchi, Michela Catteruccia, Massimo Zeviani, Carlo Dionisi-Vici, Silvia Francisci, Enrico Bertini, Rosalba Carrozzo

信号转导

发表日期：2017

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Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

核黄素反应性线粒体肌病是二氢硫辛酰胺脱氢酶缺乏症的一种新表型。维生素 B2 的伴侣样作用

期刊:Mitochondrion

影响因子:3.9

doi:10.1016/j.mito.2014.09.006

Rosalba Carrozzo, Alessandra Torraco, Giuseppe Fiermonte, Diego Martinelli, Michela Di Nottia, Teresa Rizza, Angelo Vozza, Daniela Verrigni, Daria Diodato, Giovanni Parisi, Arianna Maiorana, Cristiano Rizzo, Ciro Leonardo Pierri, Stefania Zucano, Fiorella Piemonte, Enrico Bertini, Carlo Dionisi-Vici

信号转导

发表日期：2014

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Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage

由于中枢神经系统条件性切除 Ndufa5 而导致复合物 I 部分缺乏，导致轻度慢性脑病，但不会增加氧化损伤

期刊:Human Molecular Genetics

影响因子:3.1

doi:10.1093/hmg/ddt526

Susana Peralta, Alessandra Torraco, Tina Wenz, Sofia Garcia, Francisca Diaz, Carlos T Moraes

神经

发表日期：2014

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TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis

TMEM70：核 ATP 合酶缺乏症中的突变热点，在复合物 V 生物合成中起关键作用

期刊:Neurogenetics

影响因子:1.6

doi:10.1007/s10048-012-0343-8

Alessandra Torraco, Daniela Verrigni, Teresa Rizza, Maria Chiara Meschini, Martha Elisa Vazquez-Memije, Diego Martinelli, Marzia Bianchi, Fiorella Piemonte, Carlo Dionisi-Vici, Filippo Maria Santorelli, Enrico Bertini, Rosalba Carrozzo

信号转导

发表日期：2012

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Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

对NDUFAF6在复合物I组装和线粒体疾病中的系统分析

The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity

与共济失调相关的 E1081Q 突变通过调节 PMCA3 活性来影响亚质膜 Ca2+ 微区

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature

COX5A 中的一种新型纯合变异会导致发育不良、乳酸性酸中毒、低血糖和身材矮小等弱化表型

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation

新的 NDUFA12 变异与单独的复合物 I 缺陷和可变的临床表现相关

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

婴儿期白质营养不良患者的 ISCA1 突变导致线粒体 [4Fe-4S] 蛋白缺陷

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

线粒体延长因子 EF-Tu 的新突变与发育不良性白质脑病和线粒体 DNA 翻译缺陷有关

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

核黄素反应性线粒体肌病是二氢硫辛酰胺脱氢酶缺乏症的一种新表型。维生素 B2 的伴侣样作用

Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage

由于中枢神经系统条件性切除 Ndufa5 而导致复合物 I 部分缺乏，导致轻度慢性脑病，但不会增加氧化损伤

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis

TMEM70：核 ATP 合酶缺乏症中的突变热点，在复合物 V 生物合成中起关键作用