Zobrazeno 1 - 10
of 169
pro vyhledávání: '"amelia morrone"'
Autor:
Jacopo Cardellini, Caterina Dallari, Ilaria De Santis, Lorenzo Riccio, Costanza Ceni, Amelia Morrone, Martino Calamai, Francesco Saverio Pavone, Caterina Credi, Costanza Montis, Debora Berti
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Although Surface Enhanced Raman Scattering (SERS) is widely applied for ultrasensitive diagnostics and imaging, its potential is largely limited by the difficult preparation of SERS tags, typically metallic nanoparticles (NPs) functionalized
Externí odkaz:
https://doaj.org/article/775bd80efed94160bab384bdd4565453
Autor:
Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, Nataliia Gorovenko
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 272-279 (2024)
Abstract The neuronal ceroid lipofuscinosis type 2 (CLN2) is a heterogeneous group of neurodegenerative lysosomal storage disorders caused by autosomal recessive inheritance of two pathogenic variants in trans in the TPP1 gene. Classical late‐infan
Externí odkaz:
https://doaj.org/article/f61fe51db3314df292863543e663df7c
Autor:
Emanuele Bracciamà, Annamaria Sapuppo, Laura Rapisarda, Enrico Siciliano, Anna Caciotti, Amelia Morrone, Martino Ruggieri, Giuseppina Cantarella, Renato Bernardini, Gaetano Bertino
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 6, Pp 6112-6120 (2024)
Wilson’s disease (WD) is a biallelic disease-causing variant in the ATP7B gene on chromosome 13q14.3 that results in copper accumulation in many organs, particularly the liver and brain. The phenotypic spectrum is wide and symptoms at onset can be
Externí odkaz:
https://doaj.org/article/a946173ea7574513afec5fca12a37356
Autor:
Rodolfo Tonin, Federica Feo, Silvia Falliano, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Vittorio Sciruicchio, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103431- (2024)
GM3 synthase deficiency (GM3SD) is caused by biallelic variants in the ST3GAL5 gene. Early clinical features of GM3SD include infantile onset of severe irritability and feeding difficulties, early intractable seizures, growth failure, hypotonia, sens
Externí odkaz:
https://doaj.org/article/f55c916b36d54a0a9baf8df4d10baad8
Autor:
Rodolfo Tonin, Federica Feo, Silvia Falliano, Lorenzo Ferri, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103235- (2023)
Congenital Disorders of Glycosylation (CDG) are rare inherited metabolic diseases caused by genetic defects in the glycosylation of proteins and lipids. In this study, we describe the generation and characterization of one human induced pluripotent s
Externí odkaz:
https://doaj.org/article/53d7ad05752f4e0c94076074d801115b
Autor:
Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai
Publikováno v:
Molecules, Vol 29, Iss 2, p 453 (2024)
Gaucher disease (GD) is a rare genetic metabolic disorder characterized by a dysfunction of the lysosomal glycoside hydrolase glucocerebrosidase (GCase) due to mutations in the gene GBA1, leading to the cellular accumulation of glucosylceramide (GlcC
Externí odkaz:
https://doaj.org/article/b6fa55da06f949e4a70e1d8eae855fc7
Autor:
Luca Filippi, Sara Tamagnini, Francesca Lorenzoni, Anna Caciotti, Amelia Morrone, Rosa Scaramuzzo
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
In a newborn with very precocious liver failure, cholestatic jaundice, and low γ-glutamyl transpeptidase, progressive hepatosplenomegaly induced a progressively worsening respiratory distress, that was successfully treated with steroids. Laboratory
Externí odkaz:
https://doaj.org/article/7c13c8732b8c42f3a94c07cac5182d18
Autor:
Ana Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, Tiziana Bachetti, Paride Pelucchi, Valentina Melzi, Cinzia Arzilli, Marta Peruzzi, Rolland A. Reinbold, Silvia Cardani, Amelia Morrone, Renzo Guerrini, Ileana Zucchi, Stefania Corti, Isabella Ceccherini, Raffaele Piumelli, Niccolò Nassi, Simona Di Lascio, Diego Fornasari
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102781- (2022)
Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of the autonomic nervous system (ANS), characterized by inadequate control of autonomic ventilation and global autonomic dysfunction. Heterozygous polyalanine repeat expansion muta
Externí odkaz:
https://doaj.org/article/aaf7a82787834f39b8f3ea00ebf56a91
Autor:
Anna Caciotti, Elena Procopio, Francesca Pochiero, Silvia Falliano, Giuseppe Indolfi, Maria Alice Donati, Lorenzo Ferri, Renzo Guerrini, Amelia Morrone
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
Abstract We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the p
Externí odkaz:
https://doaj.org/article/fc5ab83a26d843f794c59740debf6027
Autor:
Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone, Maria Alice Donati
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients. However, its age-related prevalence, clinical prese
Externí odkaz:
https://doaj.org/article/d56a0e27dfe544fcbedfb76da9d2d3fe