Attuale affiliazione:
Dipartimento di Scienze Mediche e Chirurgiche (DIMEC)
Università di Bologna
U.O. Genetica Medica
Policlinico S. Orsola-Malpighi, pad 11
via Massarenti 9
Bologna 40138
Dettagli e Contatti:
Nato a Bologna, Italia
Nazionalità Italiana
E-mail: emanuele.panza@unibo.it
FORMAZIONE
Dottore di Ricerca in Genetica Umana
Università di Torino, Italia
2002-2006
Laurea in Biotecnologie Mediche
Università di Bologna, Italia
1995-2000
APPOINTMENTS and FELLOWSHIPS
Ricercatore (RTdA), Unità di Genetica Medica,
Departimento di Scienze Mediche e Chirurgiche,
Università di Bologna, Italia
Dal 2016
Research Associate, Departimento di
Genetica Umana, Laboratorio del Prof Mario Capecchi
Università dello Utah, Salt Lake City, Utah, USA
2013-2016
HHMI Research Associate, Departimento di
Genetica Umana, Laboratorio del Prof Mario Capecchi
Università dello Utah, Salt Lake City, Utah, USA
2009-2013
Fellowship programma “Marco Polo” dalla Università di Bologna, Italia, alla Università dello Utah, Salt Lake City, Utah, USA
2008
Telethon Fellowship: “Hereditary Spastic Paraplegias” GRANT N°GGP06209. Università di Bologna, Italia
In questo progetto sono stato direttamente responsabile della parte “Identificazione del gene responsabile di una forma complessa di Paraparesi Spastica Ereditaria: la forma SPG9”
2006-2008
Assegno di Ricerca, Università di Bologna, Italia
2004
Membro del consiglio dei Probi Viri, Associazione Nazionale dei Biotecnologi (ANBI)
2002-2005
Visiting Fellow, Istituto di Genetica Umana, Centro Ricerche Nazionale per l’ambiente e la salute, Neuherberg, Germany
2002
Telethon Fellowship: “Malattie da MYH9” GRANT N°E.1313. Istituto G.Gaslini, Genova, Italia
In questo progetto sono stato direttamente responsabile della parte “Generazione di un modello in vitro per lo studio delle mutazioni MYH9”
2001-2003
Fellowship da Consorzio Interuniversitario per le Biotecnologie (CIB, Trieste, Italia): Istituto Giannina Gaslini, Genova, Italy
2000
FINANZIAMENTI
“Understading Hereditary Spastic Paraplegias: in vivo models to study SPG9”
American Spastic Paraplegia Foundation, April 2017-March2019.
PUBBLICAZIONI SCIENTIFICHE
Panza E, Ozenberger BB, Straessler K, Barrott JJ, Li L, Xie M, Boulet A, Titen S, Mason C, Lazar AJ, Ding L, Capecchi MR, Jones KB. “The Clear Cell Sarcoma Functional Genomic Landscape.”
J Clin Invest. 2021 Aug 2;131(15):e146301. doi: 10.1172/JCI146301.
Panza E, Barbieri S, Spagnuolo R. “La tecnologia del Gene Editing nella didattica esperienziale per studenti delle scuole secondarie di secondo grado”.
IUL Research, Vol. 1, num. 2, Dicembre 2020.
Toydemir MR, Panza E, Longhurst M, South S, Rope A. “Seizures and cardiomyopathy in a patient with Pallister-Killian syndrome due to hexasomy 12p mosaicism”.
Molecular Syndromology 2020 Jul;11(3):125-129. doi: 10.1159/000507598. Epub 2020 Apr 10.
Magini P, Marco-Marin C, Escamilla JM, Martinelli D, Dionisi Vici C, Faravelli F, Forzano F, Seri M, Rubio V, Panza E.
“P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9”.
Ann Clin Transl Neurol. 2019 Aug;6(8):1533-1540.
Panza E, Martinelli D, Magini P, Dionisi Vici C, Seri M.
“Hereditary spastic paraplegia is a common phenotypic finding in ARG1 Deficiency, P5CS deficiency and HHH syndrome: three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism”.
Frontiers in Neurology 2019 Feb 22;10:131.
Dugan SL, Panza E, Openshaw A, Botto LD, Camacho JA, Toydemir RM.
“Delineation of the 9q31 Microdeletion Syndrome: Genomic Microarray Characterization of Two Patients with Overlapping Deletions”.
American Journal Of Medical Genetics Part A. 2018.
Panza E, Escamilla JM, Marco-Marín C, Gougeard N, De Michele G, Brescia Morra V, Liguori R, Salviati L, Donati MA, Ravazzolo R, Davies S, Hurst J, Bordo D, Rubio V, Seri M.
“ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism”.
Brain. 2016 Jan;139(Pt 1):e3.
Knowles C, Lindberg G, Panza E, De Giorgio R. “New perspectives in the diagnosis and management of adult enteric neuropathies.”
Nat Rev Gastroenterol Hepatol. 2013 Apr;10(4):206-18.
Panza E, Knowles CH, Graziano C, Thapar N, Burns AJ, Seri M, Stanghellini V, De Giorgio R. “Genetics of human enteric neuropathies.”
Prog Neurobiol. 2012 Jan 14;96(2):176-189.
Pecci A, Buozzi V, Panza E, Barozzi S, Tira ME, Seri M, and Balduini CL.
"Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells on type I collagen."
Thromb Haemost. 2011 Aug 11;106(4).
Pecci A, Panza E, De Rocco D, Nuria Pujol-Moix, Girotto G, Podda L, Paparo C, Bozzi V, Pastore A, Balduini CL, Seri M, Savoia A.
“MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild phenotype”.
Eur J Haematol. 2010 Apr;84(4):291-7.
Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A.
“MYH9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder”.
Thromb Haemost. 2010 Mar 31;103(4):826-32.
Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Boris Bradac G, Pinessi L, Cavalieri S, Grosso E.
“A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without LMNB1 mutations”.
Eur J Neurol. 2010 Apr;17(4):541-9
Ferrero Gb, Baldassarre G, Panza E, Valenzise M, Pippucci T, Mussa A, Pepe E, Seri M, Silengo MC.
“A heritable cause of cleft lip and palate - Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis”.
Eur J Pediatr. 2010 Feb;169(2):223-8.
Graziano C, Carone S, Panza E, Marino F, Romeo G, Pession A, Seri M.
“Association of hereditary thrombocythemia and terminal limb defects in a family with a mutation in the thrombopoietin gene”.
Blood. 2009 Aug 20;114(8):1655-7.
Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M.
“Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel splice site mutation in the SPG11 gene and further evidence for genetic heterogeneity”.
Eur J Neurol. 2009 Jan; 16(1):121-6.
Panza E, Marini M, Pecci A, Giacopelli F, Bozzi V, Seri M, Balduini C, Ravazzolo R.
“Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines”.
Pathogenetics 2008 Dec 1; 1(1):5.
Panza E, Pippucci T, Cusano R, Lo Nigro C, Pradella L, Contardi S, Rouleau GA, Stevanin G, Ravazzolo R, Liguori R, Montagna P, Romeo G, Seri M.
“A refined physical map of the SPG9 locus on 10q23.3-24.2: screening of candidate genes”.
Eur J Neurol. 2008 May; 15(5):520-4.
Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Molinas FC, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A.
“The position of NMMHC-IIA mutations predicts the natural history of MYH9-related disease”.
Hum Mutat. 2008 Mar;29(3):409-17.
Deglincerti A, De Giorgio R, Cefle K, Devoto M, Pippucci T, Castegnaro G, Panza E, Barbara G, Cogliandro RF, Mungan Z, Palanduz S, Corinaldesi R, Romeo G, Seri M, Stanghellini V.
“A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-24”.
Eur J Hum Genet. 2007 Aug;15(8):889-97.
Panza E, Gimelli G, Passalacqua M, Cohen A, Gimelli S, Giglio S, Ghezzi C, Sparatore B, Heye B, Zuffardi O, Rugarli E, Meitinger T, Romeo G, Ravazzolo R, Seri M.
“The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies”.
Int J Mol Med 2007 Mar; 19(3):429-35.
Longo L, Panza E, Schena F, Seri M, Devoto M, Romeo G, Tonini G.P. and Perri P.
“Identification of two novel regions at 2p and 12p for predisposition to familial neuroblastoma”.
Hum Hered 2007 Feb 22; 63(3-4):205-211.
Gruppioni E, Conti B, Altimari A, Gabusi E, Panza E, Grazi GL, Di Pinna A, De Ruvo N, Fiorentino M, Grigioni W, D’Errico A.
“A modified fluorescent PCR method allowing molecular diagnosis of post transplantation lymphoproliferative disorders on routine tissue sections”.
Diagn Mol Pathol 2005; 14:170–176.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Soriano JR, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A.
“MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness”.
Medicine (Baltimore) 2003 May; 82(3):203-15.
Emanuele Panza,
Bologna 15/09/2021
