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Emanuele Bellacchio
Researcher at Boston Children's Hospital
Publications - 114
Citations - 3161
Emanuele Bellacchio is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Compound heterozygosity & Gene. The author has an hindex of 23, co-authored 102 publications receiving 2667 citations. Previous affiliations of Emanuele Bellacchio include University of Padua & Casa Sollievo della Sofferenza.
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Journal ArticleDOI
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
Laura Silvestri,Viviana Caputo,Emanuele Bellacchio,Luigia Atorino,Bruno Dallapiccola,Enza Maria Valente,Giorgio Casari +6 more
TL;DR: It is described that PINK1 mutations confer different autophosphorylation activity, which is regulated by the C-terminal portion of the protein, and the mitochondrial localization of both wild-type and mutant Pink1 proteins unequivocally.
Journal ArticleDOI
Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Enza Maria Valente,Jennifer L. Silhavy,Francesco Brancati,Francesco Brancati,Giuseppe Barrano,Giuseppe Barrano,Suguna Rani Krishnaswami,Marco Castori,Marco Castori,Madeline A. Lancaster,Eugen Boltshauser,Loredana Boccone,Lihadh Al-Gazali,Elisa Fazzi,Sabrina Signorini,Carrie M. Louie,Emanuele Bellacchio,Enrico Bertini,Bruno Dallapiccola,Bruno Dallapiccola,Joseph G. Gleeson +20 more
TL;DR: This paper identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal manifestations of JSRD and showed centrosome and ciliary localization, linking JSRDs to other human ciliopathies.
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NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome
Alessandro De Luca,Irene Bottillo,Anna Sarkozy,Claudio Carta,Cinzia Neri,Emanuele Bellacchio,Annalisa Schirinzi,Emanuela Conti,Giuseppe Zampino,Agatino Battaglia,Silvia Majore,Maria Michela Rinaldi,Massimo Carella,Bruno Marino,Antonio Pizzuti,Maria Cristina Digilio,Marco Tartaglia,Marco Tartaglia,Bruno Dallapiccola +18 more
TL;DR: The view that NFNS represents a variant of NF1 and is caused by mutations of the NF1 gene, some of which have been demonstrated to cause classic NF1 in other individuals is supported.
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
Enza Maria Valente,Francesco Brancati,Francesco Brancati,Francesco Brancati,Jennifer L. Silhavy,Marco Castori,Sarah E. Marsh,Giuseppe Barrano,Enrico Bertini,Eugen Boltshauser,Maha S. Zaki,Alice Abdel-Aleem,Ghada M H Abdel-Salam,Emanuele Bellacchio,Roberta Battini,Robert P. Cruse,William B. Dobyns,Kalpathy S. Krishnamoorthy,Clotilde Lagier-Tourenne,Alex Magee,Ignacio Pascual-Castroviejo,Carmelo Salpietro,Dean Sarco,Bruno Dallapiccola,Bruno Dallapiccola,Joseph G. Gleeson +25 more
TL;DR: Joubert syndrome is characterized by hypoplasia of the cerebellar vermis and a particular midbrain‐hindbrain “molar tooth” sign, a finding shared by a group of Joubert syndrome–related disorders (JSRDs), with wide phenotypic variability.
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Familial transposition of the great arteries caused by multiple mutations in laterality genes
Alessandro De Luca,Anna Sarkozy,Federica Consoli,Rosangela Ferese,Valentina Guida,Maria Lisa Dentici,Rita Mingarelli,Emanuele Bellacchio,Giulia Tuo,Giuseppe Limongelli,Maria Cristina Digilio,Bruno Marino,Bruno Dallapiccola +12 more
TL;DR: Evidence is provided that some cases of familial TGA are caused by mutations in laterality genes and therefore are part of the same disease spectrum of heterotaxy syndrome, and argues for an oligogenic or complex mode of inheritance in these pedigrees.