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Mutarelli Margherita

Short Biography

Education
  • 2006 Ph.D. Degree in Computational Biology at Second University of Naples.
  • 2001 Degree in Environmental Science at University of Bologna.
Technical Skills
  • Next Generation Sequencing
  • High throughput sequence analysis
  • Gene networks
  • MicroRNA
Publications
  • Ronchini C, Brozzi A, Riva L, Luzi L, Gruszka AM, Melloni GE, Scanziani E, Dharmalingam G, Mutarelli M, Belcastro V, Lavorgna S, Rossi V, Spinelli O, Biondi A, Rambaldi A, Lo-Coco F, di Bernardo D, Pelicci PG. PML-RARA-associated cooperating mutations belong to a transcriptional network that is deregulated in myeloid leukemias. Leukemia. 2017 Jan 20.
  • Piccolo P, Attanasio S, Secco I, Sangermano R, Strisciuglio C, Limongelli G, Miele E, Mutarelli M, Banfi S, Nigro V, Pons T, Valencia A, Zentilin L, Campione S, Nardone G, Lynnes TC, Celestino-Soper PB, Spoonamore KG, D'Armiento FP, Giacca M, Staiano A, Vatta M, Collesi C, Brunetti-Pierri N. MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy. Hum Mol Genet. 2017 Jan 1;26(1):33-43
  • Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V. Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. Clin Genet. 2016 Nov;90(5):445-450
  • Carrella D, Manni I, Tumaini B, Dattilo R, Papaccio F, Mutarelli M, Sirci F, Amoreo CA, Mottolese M, Iezzi M, Ciolli L, Aria V, Bosotti R, Isacchi A, Loreni F, Bardelli A, Avvedimento VE, di Bernardo D, Cardone L. Computational drugs repositioning identifies inhibitors of oncogenic PI3K/AKT/P70S6K-dependent pathways among FDA-approved compounds. Oncotarget. 2016 Sep 13;7(37):58743-58758
  • De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nat Cell Biol. 2016 Aug;18(8):839-50
  • Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sanpaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients. Neurology. 2016 Jul 5;87(1):71-6
  • Pinelli M*, Carissimo A*, Cutillo L*, Lai CH*, Mutarelli M*, Moretti MN*, Singh MV, Karali M, Carrella D, Pizzo M, Russo F, Ferrari S, Ponzin D, Angelini C, Banfi S, di Bernardo D An atlas of gene expression and gene co-regulation in the human retina. Nucleic Acids Res. 2016 Jul 8;44(12):5773-84
  • Karali M, Persico M, Mutarelli M, Carissimo A, Pizzo M, Singh Marwah V, Ambrosio C, Pinelli M, Carrella D, Ferrari S, Ponzin D, Nigro V, di Bernardo D, Banfi S. High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs. Nucleic Acids Res. 2016 Feb 29;44(4):1525-40. doi: 10.1093/nar/gkw039.
  • Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V. Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? Eur J Hum Genet. 2016 Jan;24(1):73-7. doi: 10.1038/ejhg.2015.76.
  • Di Fruscio G, Schulz A, Savarese M, de Cegli R, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy. 2015;11(6):928-38
  • Perillo L, Monsurrò A, Bonci E, Torella A, Mutarelli M, Nigro V. Genetic Association of ARHGAP21 Gene Variant with Mandibular Prognathism. J Dent Res. 2015 Feb 17. pii: 0022034515572190
  • Savarese M, Di Fruscio G, Mutarelli M, Torella A, Magri F, Santorelli F, Comi G, Bruno C, Nigro V. MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. Acta Neuropathol Commun. 2014 Sep 11;2(1):10
  • Mutarelli M, Marwah VS, Rispoli R, Carrella D, Dharmalingam G, Oliva G and di Bernardo D. A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders. BMC Genomics, 2014;15 Suppl 3:S5
  • Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One. 2013 May 7;8(5):e63536
  • Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA; European Retinal Disease Consortium, Simonelli F, Banfi S. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis. 2013 Jan 28;8:16
  • Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V (2012) Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. PLoS One, 2012;7(8):e43799. Epub 2012 Aug 29.
  • Gennarino VA, D’Angelo G, Dharmalingam G, Fernandez S, Russolillo G, Sanges R, Mutarelli M, Belcastro V, Ballabio A, Verde P, Sardiello M, Banfi S (2012) Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Res., 22: 1163-1172.
  • Costa V, Angelini C, D’Apice L, Mutarelli M, Casamassimi A, Sommese L, Gallo MA, Aprile M, Esposito R, Leone L, Donizetti A, Crispi S, Rienzo M, Sarubbi B, Calabrò R, Picardi M, Salvatore P, Infante T, De Berardinis P. Massive-Scale RNA-Seq Analysis of Non Ribosomal Transcriptome in Human Trisomy 21. PLoS ONE. 2011;6(4):e18493.
  • Gennarino VA, Sardiello M, Mutarelli M, Dharmalingam G, Maselli V, Lago G, Banfi S. HOCTAR database: a unique resource for microRNA target prediction. Gene. 2011;480(1-2):51-58.
  • Grober OMV*, Mutarelli M*, Giurato G, et al. Global analysis of estrogen receptor beta binding to breast cancer cell genome reveals an extensive interplay with estrogen receptor alpha for target gene regulation. BMC Genomics. 2011;12(1):36.
  • Gatto S, Ragione FD, Cimmino A, Strazzullo M, Fabbri M, Mutarelli M, Ferraro L, Weisz A, D’Esposito M, Matarazzo MR. Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome. Epigenetics. 2010;5(5):427-443.
  • Cicatiello L, Mutarelli M, Grober OMV, et al. Estrogen receptor alpha controls a gene network in luminal-like breast cancer cells comprising multiple transcription factors and microRNAs. Am. J. Pathol. 2010;176(5):2113-2130.
  • Angelini C, Cutillo L, De Canditiis D, Mutarelli M, Pensky M (2008) “BATS: A Bayesian User-Friendly software for analyzing time series microarray data” BMC Bioinformatics 9:415
  • Mutarelli M, Cicatiello L, Ferraro L, Grober OMV, Ravo M, Facchiano AM, Angelini C, Weisz A (2008) “Time-course analysis of genome-wide gene expression data from hormone-responsive human breast cancer cells” BMC Bioinformatics 9(Suppl 2):S12
  • Ravo M*, Mutarelli M*, Ferraro L, Grober OMV, Paris O, Tarallo R, Vigilante A, Cimino D, De Bortoli M, Nola E, Cicatiello L, Weisz A (2008) “Quantitative expression profiling of highly degraded RNA from formalin-fixed, paraffin-embedded breast tumor biopsies by oligonucleotide microarrays” Laboratory Investigation 88:430–440
  • Angelini C, De Canditiis D, Mutarelli M, Pensky M (2007) “Bayesian approach to estimation and testing in time course microarray experiments, Stat Appl Genet Mol Biol 6:Article 24
  • Mutarelli M, Facchiano F, Colonna G, Facchiano A (2006) “Gene expression analysis by integration of microarrays technology, bioinformatics tools and biocomputing methods” Compositi e Nanotecnologie, 2, 13-18
  • Mutarelli M, Facchiano F, Colonna G, Facchiano AM (2006) “Bioinformatic tools for the analysis of gene expression by microarrays” - Recent Devel Nucleic Acid Res 2:175-200