Livia Bernardi, Silvana Geracitano, Rosanna Colao, Gianfranco Puccio, Maura Gallo, Maria Anfossi, Francesca Frangipane, Sabrina A.M. Curcio, Maria Mirabelli, Carmine Tomaino, Franca Vasso, Nicoletta Smirne, Raffaele Maletta, Amalia C. Bruni,
Mutations in the amyloid-beta protein precursor (AbetaPP) gene can cause autosomal dominant early-onset Alzheimer's disease, or Alzheimer's disease (AD) associated with cerebral amyloid angiopathy (CAA), cerebral hemorrhage, or both. We have previously reported that the AbetaPP A713T mutation is associated with AD and subcortical ischemic lesions at magnetic resonance imaging in a large family which neuropathology confirmed CAA, stroke, and AD lesions. The objective of this clinical and molecular study ...
Tópico(s): Intracerebral and Subarachnoid Hemorrhage Research
2009 - IOS Press | Journal of Alzheimer s Disease
Maria Anfossi, Livia Bernardi, Maura Gallo, Silvana Geracitano, Rosanna Colao, Gianfranco Puccio, Sabrina A.M. Curcio, Francesca Frangipane, Maria Mirabelli, Carmine Tomaino, Nicoletta Smirne, Raffaele Maletta, Amalia C. Bruni,
The V363I mutation of the microtubule-associated protein tau gene has previously been associated with a case of primary progressive nonfluent aphasia with variable penetrance. Herein, we report the finding of the V363I variation in a sporadic early onset frontotemporal dementia patient and in several members of her family. The V363I variation was associated with frontotemporal dementia only in the proband which was also homozygous for the A allele of the progranulin single-nucleotide polymorphism ...
Tópico(s): RNA regulation and disease
2010 - Lippincott Williams & Wilkins | Alzheimer Disease & Associated Disorders
Maria Anfossi, Romina Vuono, Raffaele Maletta, Kanwar Virdee, Maria Mirabelli, Rosanna Colao, Gianfranco Puccio, Livia Bernardi, Francesca Frangipane, Maura Gallo, Silvana Geracitano, Carmine Tomaino, Sabrina A.M. Curcio, Giuseppa Zannino, F Lamenza, Charles Duyckaerts, Maria Grazia Spillantini, Maria Adele Losso, Amalia C. Bruni,
Intronic MAPT mutations altering exon 10 splicing lead mainly to an increase of 4Rtau. The objective of this study is to report clinical, genetic, and neuropathological data of an apparently sporadic early onset frontotemporal dementia (FTD) case associated with 2 novel intronic MAPT gene mutations IVS10+4A > C and IVS9-15T > C that increase 3Rtau. Methods and subjects used are clinical, neuroradiological, and neuropathological examination; molecular genetics of MAPT, PGRN, and other relevant genes. ...
Tópico(s): Prion Diseases and Protein Misfolding
2011 - Elsevier BV | Neurobiology of Aging
Amalia C. Bruni, Livia Bernardi, Rosanna Colao, Elisa Rubino, Nicoletta Smirne, Francesca Frangipane, Beatrice Terni, Sabrina A.M. Curcio, Maria Mirabelli, Alessandra Clodomiro, R. Di Lorenzo, Raffaele Maletta, Maria Anfossi, Maura Gallo, Silvana Geracitano, Carmine Tomaino, Maurizio Muraca, A. Leotta, S. G. Lio, Lorenzo Pinessi, Innocenzo Rainero, Sandro Sorbi, LE Nee, Graziella Milan, Sabina Pappatà, A. Postiglione, N. Abbamondi, Gianluigi Forloni, Peter St George‐Hyslop, Ekaterina Rogaeva, Orso Bugiani, Giorgio Giaccone, J F Foncin, M. G. Spillantini, Gianfranco Puccio,
Large kindreds segregating familial Alzheimer disease (FAD) offer the opportunity of studying clinical variability as observed for presenilin 1 (PSEN1) mutations. Two early-onset FAD (EOFAD) Calabrian families with PSEN1 Met146Leu (ATG/CTG) mutation constitute a unique population descending from a remote common ancestor. Recently, several other EOFAD families with the same mutation have been described worldwide.We searched for a common founder of the PSEN1 Met146Leu mutation in families with different ...
Tópico(s): Phosphodiesterase function and regulation
2010 - Lippincott Williams & Wilkins | Neurology
Sabrina Tassini, Emily Langron, Leen Delang, Carmen Mirabelli, Kristina Lanko, Emmanuele Crespan, Miroslava Kiššová, Giulia Tagliavini, Greta Fontò, Simona Bertoni, Simone Palese, Carmine Giorgio, Francesca Ravanetti, Luisa Ragionieri, Claudio Zamperini, Arianna Mancini, Elena Dreassi, Giovanni Maga, Paola Vergani, Johan Neyts, Marco Radi,
Cystic fibrosis (CF) is a multiorgan disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR). In addition to respiratory impairment due to mucus accumulation, viruses and bacteria trigger acute pulmonary exacerbations, accelerating disease progression and mortality rate. Treatment complexity increases with patients' age, and simplifying the therapeutic regimen represents one of the key priorities in CF. We have recently reported the discovery of multitarget compounds ...
Tópico(s): Inhalation and Respiratory Drug Delivery
2019 - American Chemical Society | Journal of Medicinal Chemistry
Livia Bernardi, Carmine Tomaino, Maria Anfossi, Maura Gallo, Silvana Geracitano, Gianfranco Puccio, Rosanna Colao, Francesca Frangipane, Maria Mirabelli, Nicoletta Smirne, Raffaele Maletta, Amalia C. Bruni,
Tópico(s): Computational Drug Discovery Methods
2008 - Springer Science+Business Media | Journal of Neurology
Maura Gallo, Carmine Tomaino, Gianfranco Puccio, Francesca Frangipane, Sabrina A.M. Curcio, Livia Bernardi, Silvana Geracitano, Maria Anfossi, Maria Mirabelli, Rosanna Colao, Franca Vasso, Nicoletta Smirne, Raffaele Maletta, Amalia C. Bruni,
Tópico(s): Cholinesterase and Neurodegenerative Diseases
2009 - Springer Science+Business Media | Neurological Sciences
Livia Bernardi, Raffaele Maletta, Carmine Tomaino, Nicoletta Smirne, M. Di Natale, Maria Perri, Teresa Longo, Rosanna Colao, Sabrina A.M. Curcio, Gianfranco Puccio, Maria Mirabelli, Toshitaka Kawarai, Ekaterina Rogaeva, Peter St George‐Hyslop, Giuseppe Passarino, G. De Benedictis, Amalia C. Bruni,
Frontotemporal dementia (FTD) is a complex dementing syndrome whose genetic/non genetic risk factors are mostly unknown. Aim of the present work was to investigate whether APOE and/or tau gene variability does affect the risk of FTD. A sample of FTD cases (sporadic: n = 54; familial: n = 46, one subject per family) was collected in a genetically homogeneous population (Calabria, southern Italy) and analyzed in comparison with an age- and sex-matched control group (n = 180) extracted from the same population. ...
Tópico(s): Prion Diseases and Protein Misfolding
2005 - Elsevier BV | Neurobiology of Aging
Livia Bernardi, Carmine Tomaino, Maria Anfossi, Maura Gallo, Silvana Geracitano, Angela Costanzo, Rosanna Colao, Gianfranco Puccio, Francesca Frangipane, Sabrina A.M. Curcio, Maria Mirabelli, Nicoletta Smirne, David Iapaolo, Raffaele Maletta, Amalia C. Bruni,
Tópico(s): Prion Diseases and Protein Misfolding
2008 - Elsevier BV | Neurobiology of Aging
Carmine Tomaino, Livia Bernardi, Maria Anfossi, Angela Costanzo, Francesca Ferrise, Maura Gallo, Silvana Geracitano, Raffaele Maletta, Sabrina A.M. Curcio, Maria Mirabelli, Rosanna Colao, Francesca Frangipane, Gianfranco Puccio, Cinzia Calignano, Maria Gabriella Muraca, Annamaria Paonessa, Nicoletta Smirne, Attilio Leotta, Amalia C. Bruni,
Tópico(s): Mitochondrial Function and Pathology
2007 - Springer Science+Business Media | Journal of Neurology
Carmine Pinto, Silvia Novello, Valter Torri, Andrea Ardizzoni, Pier Giacomo Betta, Pier Alberto Bertazzi, Gianni Angelo Casalini, C. Fava, Bice Fubini, Corrado Magnani, Dario Mirabelli, Mauro Papotti, Umberto Ricardi, Gaetano Rocco, Ugo Pastorino, Gianfranco Tassi, Lucio Trodella, Maurizio Zompatori, Giorgio V. Scagliotti,
Malignant pleural mesothelioma (MPM) is a relevant public health issue. A large amount of data indicate a relationship between mesothelioma and asbestos exposure. MPM incidence has considerably and constantly increased over the past two decades in industrialized countries and is expected to peak in 2010-2020. In Italy, the standardized incidence rate in 2008 was 3.6 and 1.3 per 100,000 in men and women respectively, with wide differences from one region to another. The approach to this disease remains ...
Tópico(s): Medical Imaging and Pathology Studies
2012 - Elsevier BV | Cancer Treatment Reviews
Francesca Frangipane, Rosanna Colao, Maria Mirabelli, Gianfranco Puccio, Livia Bernardi, Carmine Tomaino, Maria Anfossi, Maura Gallo, Silvana Geracitano, Raffaele Maletta, Nicoletta Smirne, Joshua W. Elder, Toshitaka Kawarai, Christine Sato, Silvia Pradella, Yosuke Wakutani, Andrew Kertesz, Peter St George‐Hyslop, John Hardy, Ekaterina Rogaeva, Parastoo Momeni, Amalia C. Bruni,
Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN). Objective of this study is to determine the frequency of GRN mutations in a cohort of Caucasian FTD patients without mutations in known FTD genes. GRN was sequenced in a series of 78 independent FTD patients including 23 familial subjects. A different Calabrian dataset (109 normal controls and 96 FTD patients) was used to establish the frequency of the GRN mutation ...
Tópico(s): Cerebrovascular and genetic disorders
2008 - Wiley | Alzheimer s & Dementia
Amalia C. Bruni, Parastoo Momeni, Livia Bernardi, Carmine Tomaino, Francesca Frangipane, JT Elder, Toshitaka Kawarai, Christine Sato, Silvia Pradella, Yosuke Wakutani, Maria Anfossi, Maura Gallo, Silvana Geracitano, Angela Costanzo, Nicoletta Smirne, Sabrina A.M. Curcio, Maria Mirabelli, Gianfranco Puccio, Rosanna Colao, Raffaele Maletta, Andrew Kertesz, Peter St George‐Hyslop, John Hardy, Ekaterina Rogaeva,
Background: Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene ( GRN ). Objective: To determine the frequency of GRN mutations in a cohort of Caucasian patients with FTD without mutations in known FTD genes. Methods: GRN was sequenced in a series of 78 independent FTD patients including 23 familial subjects. A different Calabrian dataset (109 normal control subjects and 96 FTD patients) was used to establish the frequency of the GRN ...
Tópico(s): Neurogenetic and Muscular Disorders Research
2007 - Lippincott Williams & Wilkins | Neurology
Gianfranco Puccio, Rosanna Colao, Francesca Frangipane, Sabrina A.M. Curcio, Maria Mirabelli, Livia Bernardi, Carmine Tomaino, Nicoletta Smirne, Amalia C. Bruni,
Alzheimer's disease (AD) is a progressive neurodegenerative disease for which no causative therapies are available. Acetylcholinesterase inhibitors (ACheEIs) are the current symptomatic approach largely used to enhance cholinergic function and hence cognitive performances. Nevertheless, drug response shows a large variability and is poorly predictable. It probably relies on the AD great genetic and phenotypic heterogeneity. 30% of AD cases display familiarity and 5% is caused by genes mutations. AD ...
Tópico(s): Cholinesterase and Neurodegenerative Diseases
2006 - Wiley | Alzheimer s & Dementia
Elisabetta Mariotti, Peppino Mirabelli, Giovanna Abate, Maria Schiattarella, Pasquale Martinelli, Giuliana Fortunato, Rosa Di Noto, Luigi Del Vecchio,
... CD49d, and CD56 Make a DifferenceElisabetta Mariotti, Peppino Mirabelli, Giovanna Abate, Maria Schiattarella, Pasquale Martinelli, Giuliana Fortunato, ... Di Noto, and Luigi Del VecchioElisabetta Mariotti, Peppino Mirabelli, Giovanna Abate, Maria Schiattarella, Pasquale Martinelli, Giuliana Fortunato, ... Inc.To cite this article:Elisabetta Mariotti, Peppino Mirabelli, Giovanna Abate, Maria Schiattarella, Pasquale Martinelli, Giuliana Fortunato, ...
Tópico(s): MicroRNA in disease regulation
2008 - Mary Ann Liebert, Inc. | Stem Cells and Development
Amalia C. Bruni, Francesca Frangipane, Rosanna Colao, Gianfranco Puccio, Sabrina A.M. Curcio, Maria Mirabelli, Raffaele Maletta, Maria Anfossi, Livia Bernardi, Maura Gallo, Silvana Geracitano, Carmine Tomaino, Maria Gabriella Muraca, Alessandra Clodomiro, Raffaele Di Lorenzo, Francesco Comito, Vincenzo Valenti, Sandra Marzano, Nicoletta Smirne,
Although Frontotemporal dementia (FTD) is generally indicated as the second most common form of dementia after Alzheimer's Disease (AD), epidemiological specific studies aimed to measure the prevalence are rarely conducted. Specifically, no data exist in Italian population. Aim of the study was to calculate the prevalence rate of FTD in a rural population of southern Italy where a large FTD family with a PGRN mutation has been described (Bruni et al, Neurology 2007). The whole population of all residents ...
Tópico(s): Dementia and Cognitive Impairment Research
2009 - Wiley | Alzheimer s & Dementia
Raffaele Maletta, Rosanna Colao, Sabrina A.M. Curcio, Francesca Frangipane, Maria Mirabelli, Gianfranco Puccio, Maria Anfossi, Livia Bernardi, Angela Costanzo, Francesca Ferrise, Maura Gallo, Silvana Geracitano, Nicoletta Smirne, Carmine Tomaino, David Iapaolo, Amalia C. Bruni,
Frontotemporal dementia (FTD) is frequently familial, however, only a subset of cases are caused by mutations in the microtubule–associated protein tau (MAPτ) gene (FTDP–17). Recently, mutations in the presenilin genes (PSEN1 and PSEN2) have been reported associated to familial FTD cases. To investigate the presence of PSEN1, PSEN2 and APP mutations in a sample of early onset familial FTD (f–EOFTD) patients recruited in southern Italy, without MAPτ gene mutations. 18 consecutive unrelated persons (7 females ...
Tópico(s): Dementia and Cognitive Impairment Research
2006 - Wiley | Alzheimer s & Dementia
Maria Anfossi, Livia Bernardi, Maura Gallo, Silvana Geracitano, Carmine Tomaino, Franca Vasso, Raffaele Maletta, Rosanna Colao, Francesca Frangipane, Gianfranco Puccio, Maria Mirabelli, Nicoletta Smirne, Maria Gabriella Muraca, Amalia C. Bruni,
Mutations in TAU gene can cause neurodegenerative syndromes known as “tauopathies” such as Progressive supranuclear palsy, Corticobasal degeneration and Frontotemporal dementia (FTD). Mutations, generally highly penetrant, are of two types: 1) intronic disrupting splicing of tau and 2) missense altering protein function. Indeed, different mutations with multiple pathological mechanisms may explain the phenotypic heterogeneity. However, it remains uncertain yet whether a particular mutation is always ...
Tópico(s): Alzheimer's disease research and treatments
2008 - Wiley | Alzheimer s & Dementia
Silvana Geracitano, Livia Bernardi, Raffaele Maletta, Carmine Tomaino, Maura Gallo, Maria Anfossi, Franca Vasso, Rosanna Colao, Gianfranco Puccio, Francesca Frangipane, Maria Mirabelli, Nicoletta Smirne, Maria Gabriella Muraca, Ornella De Vito, Teresa Dattilo, Michele Menniti, Amalia C. Bruni,
Mutations in the amyloid precursor protein (APP) gene can cause clinically distinct entities, such as autosomal dominant forms of Alzheimer's disease (AD), Hereditary cerebral hemorrhage with amyloidosis (HCHWA) and Cerebral amyloid angiopathy (CAA). However, mutations in exons 16 and 17 may lead also to AD with CAA. We previously reported the APP A713T mutation associated with AD and subcortical ischemic lesions at MRI in a large family in which neuropathology evidenced CAA and AD lesions. Since a ...
Tópico(s): Alzheimer's disease research and treatments
2008 - Wiley | Alzheimer s & Dementia
Maura Gallo, Carmine Tomaino, Livia Bernardi, Raffaele Maletta, Maria Anfossi, Sivana Geracitano, Franca Vasso, Gianfranco Puccio, Rosanna Colao, Francesca Frangipane, Maria Mirabelli, Nicoletta Smirne, Maria Gabriella Muraca, Ornella De Vito, Amalia C. Bruni,
Mutations in one of the three known genes such as APP, encoding the Amyloid precursor protein (APP) and Presenilin (PS1 and PS2) account for approximately only 5% to 10% of all Alzheimer's Disease (AD) cases showing autosomal dominant familial form (FAD).Objective of this study is to report a novel PS2 missense mutation and the PS1 Glu318Gly polymorphism in a FAD late onset patient. Patient was diagnosed as affected by FAD. Family history reported that the father (deceased at age > 80 years) and two sisters ( ...
Tópico(s): Alzheimer's disease research and treatments
2008 - Wiley | Alzheimer s & Dementia
Carmine Tomaino, Livia Bernardi, Maria Anfossi, Angela Costanzo, Francesca Ferrise, Maura Gallo, Silvana Geracitano, Raffaele Maletta, Sabrina A.M. Curcio, Maria Mirabelli, Rosanna Colao, Francesca Frangipane, Gianfranco Puccio, Cinzia Calignano, Maria Gabriella Muraca, Annamaria Paonessa, Nicoletta Smirne, Attilio Leotta, Amalia C. Bruni,
Mutations of PSEN2 gene are a rare cause of Familial Alzheimer's Disease (FAD) displaying a large span of the age at onset (40–80 years). To date, PSEN2 mutations have never been described in sporadic late onset AD. The PSEN2 Ser130Leu mutation, signalled as pathogenic and causative in a patient from a dominant FAD family, has recently been interpreted, after in vitro experimental procedures, as a rare polymorphism or a mutation not pathogenic. To report the PSEN2 Ser130Leu mutation in a sporadic ...
Tópico(s): Advanced biosensing and bioanalysis techniques
2006 - Wiley | Alzheimer s & Dementia
Amalia C. Bruni, Beatrice Terni, Livia Bernardi, Carmine Tomaino, Raffaele Maletta, Nicoletta Smirne, Cinzia Calignano, Annamaria Paonessa, Attilio Leotta, Santo Lio, Gianfranco Puccio, Rosanna Colao, Francesca Frangipane, Sabrina A.M. Curcio, Maria Mirabelli, Hamid El. Hachimi, J F Foncin, Maria Grazia Spillantini,
PS1–Met146Leu segregates in distinct families scattered worldwide, belonging to two large kindreds reconstructed up to the XVIIth and whose common origin was found in southern Italy. Both families show classical AD neuropathology. A PS1–Met146Leu AD family with Pick bodies has been described in Australia, one of the ancestors signalled as an “Italian woman”. Genealogical enquiry evidenced that she was born in Cairo (Egypt) in 1895 of Italian parents descending from the common ancestor of the PS1–Met146Leu ...
Tópico(s): Alzheimer's disease research and treatments
2006 - Wiley | Alzheimer s & Dementia