R
Rossella Parini
Researcher at University of Milano-Bicocca
Publications - 201
Citations - 7423
Rossella Parini is an academic researcher from University of Milano-Bicocca. The author has contributed to research in topics: Enzyme replacement therapy & Fabry disease. The author has an hindex of 43, co-authored 197 publications receiving 6452 citations. Previous affiliations of Rossella Parini include University of Padua & University of Milan.
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Journal ArticleDOI
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
Minke H. de Ru,Jaap Jan Boelens,Anibh M. Das,Simon Jones,Johanna H. van der Lee,Nizar Mahlaoui,Eugen Mengel,Martin Offringa,Anne O'Meara,Rossella Parini,Attilio Rovelli,Karl-Walter Sykora,Vassili Valayannopoulos,Ashok Vellodi,Robert Wynn,Frits A. Wijburg +15 more
TL;DR: A European consensus procedure to reach consensus about the use of hematopoietic stem cell transplantation and enzyme replacement therapy for MPS I yielded consensus on the main issues related to therapeutic choices and research.
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Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
Daniele Ghezzi,Enrico Baruffini,Tobias B. Haack,Federica Invernizzi,Laura Melchionda,Cristina Dallabona,Tim M. Strom,Rossella Parini,Alberto Burlina,Thomas Meitinger,Holger Prokisch,Ileana Ferrero,Massimo Zeviani +12 more
TL;DR: Next-generation exome sequencing was used to identify mutations in MTO1, which encodes mitochondrial translation optimization 1, and mutant muscle and fibroblasts showed variably combined reduction in mtDNA-dependent respiratory chain activities and in vivo mtDNA translation was impaired in the mutant yeast strains.
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Multidisciplinary Management of Hunter Syndrome
Joseph Muenzer,Mathias Beck,Christine M. Eng,Maria L. Escolar,Roberto Giugliani,Nathalie Guffon,Paul Harmatz,Wolfgang Kamin,Christoph Kampmann,S T Koseoglu,Bianca Link,Rick A. Martin,David W. Molter,M V Muñoz Rojas,J W Ogilvie,Rossella Parini,Uma Ramaswami,Maurizio Scarpa,Ida Vanessa Doederlein Schwartz,Robert E. Wood,Ed Wraith +20 more
TL;DR: The important management topics are discussed in this review, and the use of enzyme-replacement therapy with recombinant human iduronate-2-sulfatase as a specific treatment for Hunter syndrome is presented.
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Fabry disease and the skin: data from FOS, the Fabry outcome survey.
C. H. Orteu,T. Jansen,Olivier Lidove,R. Jaussaud,Derralynn Hughes,Guillem Pintos-Morell,Uma Ramaswami,Rossella Parini,G. Sunder‐Plassman,M Beck,Atul Mehta +10 more
TL;DR: Fabry disease is a rare, X‐linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.
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Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Xiaowu Gai,Daniele Ghezzi,Mark A. Johnson,Caroline Biagosch,Hanan E. Shamseldin,Tobias B. Haack,Aurelio Reyes,Mai Tsukikawa,Claire A. Sheldon,Satish Srinivasan,Matteo Gorza,Laura S. Kremer,Thomas Wieland,Tim M. Strom,Erzsebet Polyak,Emily Place,Emily Place,Mark B. Consugar,Julian Ostrovsky,Sara Vidoni,Alan J. Robinson,Lee-Jun C. Wong,Neal Sondheimer,Mustafa A. Salih,Emtethal Al-Jishi,Christopher P. Raab,Charles Bean,Francesca Furlan,Rossella Parini,Costanza Lamperti,Johannes A. Mayr,Vassiliki Konstantopoulou,Martina Huemer,Eric A. Pierce,Eric A. Pierce,Thomas Meitinger,Peter Freisinger,Wolfgang Sperl,Holger Prokisch,Fowzan S. Alkuraya,Marni J. Falk,Massimo Zeviani +41 more
TL;DR: It is demonstrated that FBXL4 is targeted to mitochondria and localizes in the intermembrane space, where it participates in an approximately 400 kDa protein complex, which strongly support a role forFBXL4 in controlling bioenergetic homeostasis and mtDNA maintenance.