Publications by authors named "Maila Giannandrea"

10Publications

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.

Authors:
Maria Lidia Mignogna Maila Giannandrea Antonia Gurgone Francesca Fanelli Francesco Raimondi Lisa Mapelli Silvia Bassani Huaqiang Fang Eelco Van Anken Massimo Alessio Maria Passafaro Silvia Gatti José A Esteban Richard Huganir Patrizia D'Adamo

Nat Commun 2015 Mar 18;6:6504. Epub 2015 Mar 18.

Dulbecco Telethon Institute at IRCCS San Raffaele Scientific Institute, Division of Neuroscience, 20132 Milan, Italy.

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March 2015

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Authors:
Gabrielle R Wilson Joe C H Sim Catriona McLean Maila Giannandrea Charles A Galea Jessica R Riseley Sarah E M Stephenson Elizabeth Fitzpatrick Stefan A Haas Kate Pope Kirk J Hogan Ronald G Gregg Catherine J Bromhead David S Wargowski Christopher H Lawrence Paul A James Andrew Churchyard Yujing Gao Dean G Phelan Greta Gillies Nicholas Salce Lynn Stanford Ashley P L Marsh Maria L Mignogna Susan J Hayflick Richard J Leventer Martin B Delatycki George D Mellick Vera M Kalscheuer Patrizia D'Adamo Melanie Bahlo David J Amor Paul J Lockhart

Am J Hum Genet 2014 Dec 26;95(6):729-35. Epub 2014 Nov 26.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address:

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December 2014

A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder.

Authors:
Elena Bacchelli Fabiola Ceroni Dalila Pinto Silvia Lomartire Maila Giannandrea Patrizia D'Adamo Elena Bonora Piero Parchi Raffaella Tancredi Agatino Battaglia Elena Maestrini

J Neurodev Disord 2014 10;6(1):17. Epub 2014 Jul 10.

Department of Pharmacy and Biotechnology, University of Bologna, via Selmi 3, Bologna 40126, Italy.

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July 2014

RAB GTPases and RAB-interacting proteins and their role in the control of cognitive functions.

Authors:
Patrizia D'Adamo Michela Masetti Veronica Bianchi Lorenzo Morè Maria Lidia Mignogna Maila Giannandrea Silvia Gatti

Neurosci Biobehav Rev 2014 Oct 9;46 Pt 2:302-14. Epub 2014 Jan 9.

F. Hoffmann-La Roche AG, pRED Pharma Research & Early Development, DTA Neuroscience Grenzacherstrasse 124, Basel CH4070, Switzerland.

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October 2014

Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.

Authors:
Lieselot Vanmarsenille Maila Giannandrea Nathalie Fieremans Jelle Verbeeck Stefanie Belet Martine Raynaud Annick Vogels Katrin Männik Katrin Õunap Vigneron Jacqueline Sylvain Briault Hilde Van Esch Patrizia D'Adamo Guy Froyen

Hum Mutat 2014 Mar;35(3):377-83

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March 2014

Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.

Authors:
Maila Giannandrea Fabrizia C Guarnieri Niels H Gehring Elena Monzani Fabio Benfenati Andreas E Kulozik Flavia Valtorta

PLoS One 2013 20;8(6):e67724. Epub 2013 Jun 20.

Division of Neuroscience, San Raffaele Scientific Institute and Vita-Salute University, Milan, Italy.

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January 2014

Effects of phosphorylation and neuronal activity on the control of synapse formation by synapsin I.

Authors:
Laura E Perlini Francesca Botti Eugenio F Fornasiero Maila Giannandrea Dario Bonanomi Mario Amendola Luigi Naldini Fabio Benfenati Flavia Valtorta

J Cell Sci 2011 Nov 1;124(Pt 21):3643-53. Epub 2011 Nov 1.

San Raffaele Scientific Institute and Vita-Salute University, Via Olgettina 58, 20132 Milano, Italy.

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November 2011

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

Authors:
Maila Giannandrea Veronica Bianchi Maria Lidia Mignogna Alessandra Sirri Salvatore Carrabino Errico D'Elia Matteo Vecellio Silvia Russo Francesca Cogliati Lidia Larizza Hans-Hilger Ropers Andreas Tzschach Vera Kalscheuer Barbara Oehl-Jaschkowitz Cindy Skinner Charles E Schwartz Jozef Gecz Hilde Van Esch Martine Raynaud Jamel Chelly Arjan P M de Brouwer Daniela Toniolo Patrizia D'Adamo

Am J Hum Genet 2010 Feb;86(2):185-95

Dulbecco Telethon Institute at Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

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February 2010

{alpha}-synuclein and its A30P mutant affect actin cytoskeletal structure and dynamics.

Authors:
Vítor L Sousa Serena Bellani Maila Giannandrea Malikmohamed Yousuf Flavia Valtorta Jacopo Meldolesi Evelina Chieregatti

Mol Biol Cell 2009 Aug 24;20(16):3725-39. Epub 2009 Jun 24.

Department of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

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August 2009

Human cytomegalovirus DNA polymerase catalytic subunit pUL54 possesses independently acting nuclear localization and ppUL44 binding motifs.

Authors:
Gualtiero Alvisi Alessandro Ripalti Apollinaire Ngankeu Maila Giannandrea Stefano G Caraffi Manisha M Dias David A Jans

Traffic 2006 Oct 15;7(10):1322-32. Epub 2006 Aug 15.

Dipartimento di Medicina Clinica Specialistica e Sperimentale, Sezione di Microbiologia, Università degli Studi di Bologna, via Massarenti 9, 40138 Bologna, Italy.

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October 2006