Mitochondrial Diseases: Theory, Diagnosis and Therapy

Author:   Placido Navas ,  Leonardo Salviati
Publisher:   Springer Nature Switzerland AG
Edition:   1st ed. 2021
ISBN:  

9783030701499


Pages:   305
Publication Date:   31 July 2022
Format:   Paperback
Availability:   Manufactured on demand   Availability explained
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Mitochondrial Diseases: Theory, Diagnosis and Therapy


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Author:   Placido Navas ,  Leonardo Salviati
Publisher:   Springer Nature Switzerland AG
Imprint:   Springer Nature Switzerland AG
Edition:   1st ed. 2021
Weight:   0.480kg
ISBN:  

9783030701499


ISBN 10:   3030701492
Pages:   305
Publication Date:   31 July 2022
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Paperback
Publisher's Status:   Active
Availability:   Manufactured on demand   Availability explained
We will order this item for you from a manufactured on demand supplier.

Table of Contents

PrefaceChapter 1 Two genomes connection: biogenesis of mitochondria respiratory chain Chapter 2  Nuclear DNA: mutations in structural subunits and assembly factorsChapter 3 Defects of mtDNAChapter 4 MtDNA maintenance genes and depletionChapter 5 Defects in mitochondrial protein synthesisChapter 6 Defects in mitochondria dynamicsChapter 7 CoQ biosynthesis disordersChapter 8 Cytochrome c mutationsChapter 9 Biochemical approaches for mitochondrial diseases diagnosisChapter 10 Molecular genetics in the Next Generation Sequencing era Chapter 11 Model cells and organismsChapter 12  Metabolomics and proteomics: complementary toolsChapter 13 Therapies approaches in mitochondrial diseasesIndex

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Author Information

Plácido Navas obtained the PhD at the University of Seville, Spain. He developed a Fulbright postdoc with J. D. Morré and F. L. Crane at Purdue University, Indiana. After a period of Associate Professor at the University of Cordoba, he became Professor of Cell Biology at the University Pablo de Olavide, Seville, principal investigator at the Centro de Investigación Biomédicaen Red (CIBER) of Rare Diseases, and he is the current Director of the Andalussian Center for Developmental Biology (CABD). His research has focused on the coenzyme Q homeostasis in respiratory chain and aging, and on the molecular diagnosis of coenzyme Q deficiency syndrome. Leonardo Salviati obtained his MD and PhD degrees at the University of Padova in Italy. After a postdoctoral fellowship in the labs of Salvatore Di Mauro and Eric Schon at Columbia University in New York, he was recruited by the department of Pediatrics of the University of Padova, where he is currently professor of Medical Genetics, and director of the Clinical Genetics Unit and of the Medical Genetics Residency Program. His research has focused on mitochondrial disorders, with a particular focus on coenzyme Q deficiency.

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