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Pilar Barberán-Martínez on Muck Rack

Pilar Barberán-Martínez

As seen in: Nature, Science Magazine
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Articles

COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating

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By Guobin Yu, Ruoqi Liu, Andrea Gottinger, Marco Malatesta, Callum R. Nicoll, Georg Ansari, Mathieu Quinodoz, Karolina Kaminska Verified, Tien-En Tan, Beau J. Fenner, Pilar Barberán-Martínez, Gema García-García, Jose M. Millan, Maximilian Pfau, Domiziana Cecchini, Andrea Mattevi, Rachael W.C. Tang, Natalie E. Burbach
| Science Magazine Verified
Abstract INTRODUCTION RESULTS DISCUSSION MATERIALS AND METHODS Acknowledgments Supplementary Materials REFERENCES Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract Coenzyme Q biosynthesis requires two atypical kinase-like proteins (COQ8A and COQ8B), whose detailed molecular mechanism remains unclear.
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Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach - Eye

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By Anna Esteve-Garcia, Ariadna Padró-Miquel, Pilar Barberán-Martínez
| Nature Verified
Abstract Inherited retinal dystrophies (IRDs) are a genetically heterogeneous group of conditions, with approximately 40% of cases remaining unresolved after initial genetic testing. This study aimed to assess the impact of a personalised genomic approach integrating whole-exome sequencing (WES) reanalysis, whole-genome sequencing (WGS), customised gene panels and functional assays to improve diagnostic yield in unresolved cases.
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