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Molecular Biology

D-Index
48
Citations
7956
World Ranking
2691
National Ranking
65

Overview

Rosalba Carrozzo is affiliated with Bambino Gesù Children's Hospital in Italy. Their research primarily focuses on the field of Biochemistry, Genetics and Molecular Biology, with a significant emphasis on Molecular Biology as a subfield. Other areas of study include Clinical Biochemistry, Genetics, Physiology, and Neurology.

The main topics covered in their scientific work include:

  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • ATP Synthase and ATPases Research
  • Genetics and Neurodevelopmental Disorders
  • RNA modifications and cancer
  • RNA and protein synthesis mechanisms
  • Congenital heart defects research

Carrozzo has coauthored frequently with several researchers, highlighting collaboration across multiple studies. Frequent coauthors include:

  • Alessandra Torraco
  • Michela Di Nottia
  • Teresa Rizza
  • Enrico Bertini
  • Daniele Ghezzi

Their work has been published in various scientific venues. The most frequent publication venues are:

  • The American Journal of Human Genetics (4 publications)
  • International Journal of Molecular Sciences (3 publications)
  • Human Mutation (3 publications)
  • Neurobiology of Disease (2 publications)
  • Clinical Genetics (2 publications)

Recent papers authored or coauthored by Rosalba Carrozzo include:

  • SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females, 2021, The American Journal of Human Genetics
  • A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly, 2020, Neurobiology of Disease
  • Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches, 2021, Genes
  • Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants, 2020, Journal of Clinical Medicine
  • Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene, 2020, Journal of Inherited Metabolic Disease

Best Publications

  • Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

    Valeria Tiranti;Konstanze Hoertnagel;Rosalba Carrozzo;Claudia Galimberti

  • Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation.

    Ilka Wittig;Rosalba Carrozzo;Filippo M. Santorelli;Hermann Schägger

  • SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

    Rosalba Carrozzo;Carlo Dionisi-Vici;Ulrike Steuerwald;Simona Lucioli

  • Identification and Characterization of Human cDNAs Specific to BCS1, PET112, SCO1, COX15, and COX11, Five Genes Involved in the Formation and Function of the Mitochondrial Respiratory Chain ☆

    Vittoria Petruzzella;Valeria Tiranti;Patricio Fernandez;Paola Ianna

  • Glutathione in blood of patients with Friedreich's ataxia

    F. Piemonte;A. Pastore;G. Tozzi;D. Tagliacozzi

  • Actin Glutathionylation Increases in Fibroblasts of Patients with Friedreich's Ataxia A POTENTIAL ROLE IN THE PATHOGENESIS OF THE DISEASE

    Anna Pastore;Giulia Tozzi;Laura Maria Gaeta;Enrico Bertini

  • Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

    D. P. Dimmock;Q. Zhang;C. Dionisi-Vici;R. Carrozzo

  • Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

    Catarina M. Quinzii;Luis C. López;Robert W. Gilkerson;Beatriz Dorado

  • MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

    Diego Martinelli;Lorena Travaglini;Christian A. Drouin;Irene Ceballos-Picot

  • Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

    Robert Kopajtich;Thomas J. Nicholls;Joanna Rorbach;Metodi D. Metodiev

  • Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines

    Ilka Wittig;Rosalba Carrozzo;Filippo M. Santorelli;Hermann Schägger

  • MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

    L. Vergani;A. Martinuzzi;V. Carelli;P. Cortelli

  • The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

    R. Carrozzo;A. Tessa;M. E. Vázquez-Memije;F. Piemonte

  • Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

    Nunziata Maio;Daniele Ghezzi;Daniela Verrigni;Teresa Rizza

  • COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

    Gloria Brea-Calvo;Tobias B. Haack;Daniela Karall;Akira Ohtake

  • Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels.

    A. Ballabio;R. Carrozzo;G. Parenti;A. Gil

  • Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders.

    Rosalba Carrozzo;Ilka Wittig;Filippo M. Santorelli;Enrico Bertini

  • Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

    Denise Cassandrini;Maria Roberta Cilio;Marzia Bianchi;Mara Doimo

  • Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

    R. Carrozzo;M. Hirano;B. Fromenty;C. Casali

  • Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

    Laura Melchionda;Tobias B. Haack;Steven Hardy;Truus E.M. Abbink

Frequent Co-Authors

Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Filippo M. Santorelli
Filippo M. Santorelli Fondazione Stella Maris
Daniele Ghezzi
Daniele Ghezzi University of Milan
Massimo Zeviani
Massimo Zeviani University of Padua
Eleonora Lamantea
Eleonora Lamantea Istituto Neurologico Carlo Besta
Marco Tartaglia
Marco Tartaglia Bambino Gesù Children's Hospital
Corrado Angelini
Corrado Angelini University of Padua
Hermann Schägger
Hermann Schägger Goethe University Frankfurt
Andrea Martinuzzi
Andrea Martinuzzi University of Turin
Holger Prokisch
Holger Prokisch Technical University of Munich

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