Zobrazeno 1 - 10
of 77
pro vyhledávání: '"Alessandra Maresca"'
Autor:
Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali J. Rochat, Alessandra Maresca, Alessandro Vaisfeld, Davide Gentilini, Luciano Calzari, Valerio Carelli, Michael C. Zody, Elena Maestrini, Elena Bacchelli
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-15 (2024)
Abstract Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS and WES) and SNP-array a
Externí odkaz:
https://doaj.org/article/9acf2625b96d4dc9b71c18093b1268fb
Autor:
Andrea Castellaneta, Ilario Losito, Vito Porcelli, Serena Barile, Alessandra Maresca, Valentina Del Dotto, Valentina Losacco, Ludovica Sofia Guadalupi, Cosima Damiana Calvano, David C. Chan, Valerio Carelli, Luigi Palmieri, Tommaso R.I. Cataldi
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 6, Pp 100563- (2024)
Depletion or mutations of key proteins for mitochondrial fusion, like optic atrophy 1 (OPA1) and mitofusins 1 and 2 (Mfn 1 and 2), are known to significantly impact the mitochondrial ultrastructure, suggesting alterations of their membranes’ lipid
Externí odkaz:
https://doaj.org/article/6589c03608d146cbb7ee3463e3fa33a0
Autor:
Andrea Castellaneta, Vito Porcelli, Ilario Losito, Serena Barile, Alessandra Maresca, Valentina Del Dotto, Ludovica Sofia Guadalupi, Cosima Damiana Calvano, Valerio Carelli, Luigi Palmieri, Tommaso R. I. Cataldi
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract The occurrence of methyl carbamates of phosphatidylethanolamines and phosphatidylserines in the lipid extract of mitochondria obtained from mouse embryonic fibroblasts was ascertained by hydrophilic interaction liquid chromatography with ele
Externí odkaz:
https://doaj.org/article/90836e2c7f57433ab8dac88e080a1b39
Autor:
Mariantonietta Capristo, Valentina Del Dotto, Concetta Valentina Tropeano, Claudio Fiorini, Leonardo Caporali, Chiara La Morgia, Maria Lucia Valentino, Monica Montopoli, Valerio Carelli, Alessandra Maresca
Publikováno v:
Molecular Medicine, Vol 28, Iss 1, Pp 1-18 (2022)
Abstract Background Myoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA) most frequently affecting the tRNA Lys gene at position m.8344A > G. Defective tRNA
Externí odkaz:
https://doaj.org/article/1040bcc673bc4eb08ec43beceb5b9ab6
Autor:
Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Martina Romagnoli, Flavia Baccari, Corrado Zenesini, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Danara Ormanbekova, Agatino Battaglia, Raffaella Tancredi, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Maestrini, Magali Jane Rochat, Elena Bacchelli, Valerio Carelli, Alessandra Maresca
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental conditions with a strong, albeit complex, genetic basis. The genetic architecture of ASD includes different genetic models, from monogenic transmission at one en
Externí odkaz:
https://doaj.org/article/1c62301bd7b6428bb828f81a3fca9fbf
Autor:
Laura L. Gramegna, Stefania Evangelisti, Lidia Di Vito, Chiara La Morgia, Alessandra Maresca, Leonardo Caporali, Giulia Amore, Lia Talozzi, Claudio Bianchini, Claudia Testa, David N. Manners, Irene Cortesi, Maria L. Valentino, Rocco Liguori, Valerio Carelli, Caterina Tonon, Raffaele Lodi
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1200-1211 (2021)
Abstract Objective The purpose of this study was to investigate correlations between brain proton magnetic resonance spectroscopy (1H‐MRS) findings with serum biomarkers and heteroplasmy of mitochondrial DNA (mtDNA) mutations. This study enrolled p
Externí odkaz:
https://doaj.org/article/58aa84ddf658458b85dd7401e6b621fe
Autor:
Camille Peron, Alessandra Maresca, Andrea Cavaliere, Angelo Iannielli, Vania Broccoli, Valerio Carelli, Ivano Di Meo, Valeria Tiranti
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
More than 30 years after discovering Leber's hereditary optic neuropathy (LHON) as the first maternally inherited disease associated with homoplasmic mtDNA mutations, we still struggle to achieve effective therapies. LHON is characterized by selectiv
Externí odkaz:
https://doaj.org/article/6fd020e973514d5987c98a259ab6d8f0
Autor:
Camille Peron, Roberta Mauceri, Tommaso Cabassi, Alice Segnali, Alessandra Maresca, Angelo Iannielli, Ambra Rizzo, Francesca L. Sciacca, Vania Broccoli, Valerio Carelli, Valeria Tiranti
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101939- (2020)
Leber’s Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic mutations of mitochondrial DNA (mtDNA). LHON is characterized by the selective degeneration of the retinal ganglion cells (RGC). Almost all LHON mat
Externí odkaz:
https://doaj.org/article/44ae5fd09fa54f248c15c90512760a54
Autor:
Daniela Strobbe, Leonardo Caporali, Luisa Iommarini, Alessandra Maresca, Monica Montopoli, Andrea Martinuzzi, Alessandro Achilli, Anna Olivieri, Antonio Torroni, Valerio Carelli, Anna Ghelli
Publikováno v:
Neurobiology of Disease, Vol 114, Iss , Pp 129-139 (2018)
There is growing evidence that the sequence variation of mitochondrial DNA (mtDNA), which clusters in population- and/or geographic-specific haplogroups, may result in functional effects that, in turn, become relevant in disease predisposition or pro
Externí odkaz:
https://doaj.org/article/74a86fe31c9448708bfdbbc605ee1c3d
Autor:
Angelo Iannielli, Simone Bido, Lucrezia Folladori, Alice Segnali, Cinzia Cancellieri, Alessandra Maresca, Luca Massimino, Alicia Rubio, Giuseppe Morabito, Leonardo Caporali, Francesca Tagliavini, Olimpia Musumeci, Giuliana Gregato, Erwan Bezard, Valerio Carelli, Valeria Tiranti, Vania Broccoli
Publikováno v:
Cell Reports, Vol 22, Iss 8, Pp 2066-2079 (2018)
Summary: Dysfunctions in mitochondrial dynamics and metabolism are common pathological processes associated with Parkinson’s disease (PD). It was recently shown that an inherited form of PD and dementia is caused by mutations in the OPA1 gene, whic
Externí odkaz:
https://doaj.org/article/e74ec4bf3763430d970714f46ab17f1c