Malattie Rare e Infezione da COVID-19

Casa Sollievo della Sofferenza è vicina alle persone affette da malattie rare ed alle loro famiglie anche in questo periodo di maggiore difficoltà.

Se avete domande sulle possibili interazioni tra la malattia rara di cui siete affetti e l'infezione da COVID-19 o se, a causa del temporaneo blocco nell'erogazione delle visite ordinarie, necessitate di entrare in contatto con lo specialista di riferimento della malattia rara di cui siete affetti potete contattare il nostro Sportello Malattie Rare.

Lo Sportello Malattie Rare di Casa Sollievo della Sofferenza è contattabile tramite email (malattierare@operapadrepio.it) o telefonicamente al numero 0882416384 (dal lunedì al venerdì, dalle 9.00 alle 13.00).

Genetica Medica

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Telefono: 0882 416350
Fax: 0882 411616
E-Mail: m.carella@operapadrepio.it

Dirigente Biologo Responsabile: Dott. Massimo Carella

Fusco Carmela

studio funzionale di malattie genetiche rare (sindrome di Williams e sindrome Kabuki), biologia cellulare, biologia molecolare, terapie farmacologiche e cellulari.

Informazioni aggiuntive

  • Pubblicazioni Scientifiche:

    Totale pubblicazioni a partire dal 2011: 31


    2020; :

    Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

    Fusco C., Nardella G., Augello B., Boccafoschi F., Palumbo O., Fusaro L., Notarangelo A., Barbano R., Parrella P., Annicchiarico G., De Meco C., Micale L., Graziano P., Castori M.


    Biochimica et biophysica acta. Molecular basis of disease. 2020; 1866(6): 165742

    Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.

    Micale L, Morlino S, Biagini T, Carbone A, Fusco C, Ritelli M, Giambra V, Zoppi N, Nardella G, Notarangelo A, Schirizzi A, Mazzoccoli G, Grammatico P, Wade EM, Mazza T, Colombi M, Castori M


    2019; ():

    TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability.

    Venuto S, Monteonofrio L, Cozzolino F, Monti M, Appolloni I, Mazza T, Canetti D, Giambra V, Panelli P, Fusco C, Squeo GM, Croce AI, Pucci P, Malatesta P, Soddu S, Merla G, Micale L


    2019; 28(13): 2133-2142

    Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

    Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M


    2019; ():

    TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

    Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L


    2019; 10(6):

    Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders.

    Fusco C, Morlino S, Micale L, Ferraris A, Grammatico P, Castori M


    2019; ():

    Molecular diagnostic workflow, clinical interpretation of sequence variants and data repository procedures in 140 individuals with familial cerebral cavernous malformations.

    Fusco C, Copetti M, Mazza T, Amoruso L, Mastoianno S, Nardella G, Guarnieri V, Micale L, D'Agruma L, Castori M


    2019; 10(1): 2761

    Endothelial cell clonal expansion in the development of cerebral cavernous malformations.

    Malinverno M, Maderna C, Abu Taha A, Corada M, Orsenigo F, Valentino M, Pisati F, Fusco C, Graziano P, Giannotta M, Yu QC, Zeng YA, Lampugnani MG, Magnusson PU, Dejana E


    2019; 5(5): eaau8857

    Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains.

    Di Rienzo M, Antonioli M, Fusco C, Liu Y, Mari M, Orhon I, Refolo G, Germani F, Corazzari M, Romagnoli A, Ciccosanti F, Mandriani B, Pellico MT, De La Torre R, Ding H, Dentice M, Neri M, Ferlini A, Reggiori F, Kulesz-Martin M, Piacentini M, Merla G, Fimia


    2018; ():

    TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways.

    Venuto S, Castellana S, Monti M, Appolloni I, Fusilli C, Fusco C, Pucci P, Malatesta P, Mazza T, Merla G, Micale L


    2018; ():

    A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

    Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C


    2018; 1865(6): 908-919

    TRIM50 regulates Beclin 1 proautophagic activity.

    Fusco C, Mandriani B, Di Rienzo M, Micale L, Malerba N, Cocciadiferro D, Sjøttem E, Augello B, Squeo GM, Pellico MT, Jain A, Johansen T, Fimia GM, Merla G


    Journal of pediatric genetics. 2017; 6(2): 98-102

    A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

    Fusco C, Nittis P, Alfaiz AA, Pellico MT, Augello B, Malerba N, Zelante L, Reymond A, Merla G


    2016; 12(1): 1-222

    Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

    Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akemat


    2015; 15(): 470

    TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival.

    Micale L, Fusco C, Fontana A, Barbano R, Augello B, De Nittis P, Copetti M, Pellico MT, Mandriani B, Cocciadiferro D, Parrella P, Fazio VM, Dimitri LM, D'Angelo V, Novielli C, Larizza L, Daga A, Merla G


    2015; ():

    7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

    Adamo A, Atashpaz S, Germain PL, Zanella M, D'Agostino G, Albertin V, Chenoweth J, Micale L, Fusco C, Unger C, Augello B, Palumbo O, Hamilton B, Carella M, Donti E, Pruneri G, Selicorni A, Biamino E, Prontera P, McKay R, Merla G, Testa G


    2014; 15(4): 237-42

    DPP6 gene disruption in a family with Gilles de la Tourette syndrome.

    Prontera P, Napolioni V, Ottaviani V, Rogaia D, Fusco C, Augello B, Serino D, Parisi V, Bernardini L, Merla G, Cavanna AE, Donti E


    2014; ():

    Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

    Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G,


    2013; 26(2): 363-9

    HDAC6 mediates the acetylation of TRIM50.

    Fusco C, Micale L, Augello B, Mandriani B, Pellico MT, De Nittis P, Calcagnì A, Monti M, Cozzolino F, Pucci P, Merla G


    2013; 22(1): 64-70

    Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

    Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G


    Molecular Syndromology 2013; 4(3): 152-6

    Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

    Ratbi I, Fejjal N, Micale L, Augello B, Fusco C, Lyahyai J, Merla G, Sefiani A


    Molecular Syndromology 2013; 4(3): 143-7

    A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.

    Delgado LM, Gutierrez M, Augello B, Fusco C, Micale L, Merla G, Pastene EA


    2012; 11(3): 511-23

    TRIM8 modulates p53 activity to dictate cell cycle arrest.

    Caratozzolo MF, Micale L, Turturo MG, Cornacchia S, Fusco C, Marzano F, Augello B, D'Erchia AM, Guerrini L, Pesole G, Sbisà E, Merla G, Tullo A


    2012; 7(10): e46642

    A Fish-Specific Transposable Element Shapes the Repertoire of p53 Target Genes in Zebrafish.

    Micale L, Loviglio MN, Manzoni M, Fusco C, Augello B, Migliavacca E, Cotugno G, Monti E, Borsani G, Reymond A, Merla G


    2012; 107(3): 627-9

    Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

    Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G


    2012; 7(7): e40440

    The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome.

    Fusco C, Micale L, Egorov M, Monti M, D'Addetta EV, Augello B, Cozzolino F, Calcagnì A, Fontana A, Polishchuk RS, Didelot G, Reymond A, Pucci P, Merla G


    eLS.JohnWiley&Sons 2012; : 1-12

    Molecular Genetics of Williams - Beuren Syndrome

    Merla G, Micale L, Fusco C, Loviglio MN

    XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 370

    ENSPM-N6_DR DNA transposons shape a repertoire of p53 target genes in zebrafish

    Loviglio MN, Micale L, Fusco C, Augello B, D'Addetta EV, Merla G

    XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 369

    Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients

    Micale L, Fusco C, Augello B, Loviglio MN, D'Addetta EV, Calcagnì A, Zelante L, merla G

    2011; 6(1): 38

    Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients.

    Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Cirillo Silengo M, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagni A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S,


    2011; 7(1): e1001054

    Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.

    Henrichsen CN, Csárdi G, Zabot MT, Fusco C, Bergmann S, Merla G, Reymond A


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