Novel

Autor: Guido, Primiano, Alessandra, Torraco, Daniela, Verrigni, Andrea, Sabino, Enrico, Bertini, Rosalba, Carrozzo, Gabriella, Silvestri, Serenella, Servidei

Publikováno v: Neurology. Genetics. 8(4)

Topoisomerase III alpha plays a key role in the dissolution of double Holliday junctions and is required for mitochondrial DNA (mtDNA) replication and maintenance. Sequence variants in theA 44-year-old woman was referred to our hospital because of ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::22cd913440250f50abcf17b0bff7737f
https://pubmed.ncbi.nlm.nih.gov/35812164

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

Autor: Michal Minczuk, Romina Oliva, Anna Ardissone, Federica Morani, Maria Marchese, Daniela Verrigni, Filippo M. Santorelli, Daniele Ghezzi, Teresa Rizza, Claudia Nesti, Giulia Trani, Alessandra Torraco, Massimo Zeviani, Christian Daniel Mutti, Gessica Vasco, Erika Fernandez-Vizarra, Rosalba Carrozzo, Michela Di Nottia, Enrico Bertini

Publikováno v: Neurobiology of Disease, Vol 141, Iss, Pp 104880-(2020)

Mitochondrial ribosomal protein large 24 (MRPL24) is 1 of the 82 protein components of mitochondrial ribosomes, playing an essential role in the mitochondrial translation process. We report here on a baby girl with cerebellar atrophy, choreoathetosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09b7d3c628c19ed318f9e0d81a94ddba
http://hdl.handle.net/11568/1042496

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

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

Publikováno v: Human molecular genetics
(2018). doi:10.1093/hmg/ddy183
info:cnr-pdr/source/autori:Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R./titolo:ISCA1 Mutation In A Patient With Infantile-Onset Leukodystrophy Causes Defects In Mitochondrial [4Fe-4S] Proteins./doi:10.1093%2Fhmg%2Fddy183/rivista:Human molecular genetics (Print)/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volume

Multiple Mitochondrial Dysfunction Syndromes (MMDS) comprise a group of severe autosomal recessive diseases characterized by impaired respiration and lipoic acid metabolism, resulting in infantile-onset mitochondrial encephalopathy, non-ketotic hyper

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9916550326ef78adbdae26f2fe5ff769
https://doi.org/10.1093/hmg/ddy183

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

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

Publikováno v: Biochimica et Biophysica Acta

The mitochondrial Elongation Factor Tu (EF-Tu), encoded by the TUFM gene, is a highly conserved GTPase, which is part of the mitochondrial protein translation machinery. In its activated form it delivers the aminoacyl-tRNAs to the A site of the mitoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efcb9a93551fe29610ee7a125ce67732

Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches

Autor: Enrico Bertini, Teresa Rizza, Rosalba Carrozzo, Alessandra Torraco, Michela Di Nottia, Daniela Verrigni

Publikováno v: Genes
Genes, Vol 12, Iss 247, p 247 (2021)

Mitochondria do not exist as individual entities in the cell—conversely, they constitute an interconnected community governed by the constant and opposite process of fission and fusion. The mitochondrial fission leads to the formation of smaller mi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33eaa4968ec322e9eb7909708edffd4f
https://doi.org/10.3390/genes12020247