Publications by authors named "Vania Broccoli"

100Publications

Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome.

Stem Cell Res 2021 Jan 4;50:102151. Epub 2021 Jan 4.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address:

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January 2021

H3K36 Methylation in Neural Development and Associated Diseases.

Front Genet 2019 9;10:1291. Epub 2020 Jan 9.

Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

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January 2020

SCN1A/Na 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models.

Epilepsia 2019 12;60 Suppl 3:S25-S38

San Raffaele Scientific Institute, Milan, Italy.

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December 2019

Transdifferentiation of Mouse Embryonic Fibroblasts into Dopaminergic Neurons Reactivates LINE-1 Repetitive Elements.

Stem Cell Reports 2020 01 2;14(1):60-74. Epub 2020 Jan 2.

King Abdullah University of Science and Technology (KAUST), Biological Environmental Science and Engineering Division, KAUST Environmental Epigenetics Program, Bld 2, Level 3, Room 3234, 4700 King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia. Electronic address:

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January 2020

Reconstitution of the Human Nigro-striatal Pathway on-a-Chip Reveals OPA1-Dependent Mitochondrial Defects and Loss of Dopaminergic Synapses.

Cell Rep 2019 12;29(13):4646-4656.e4

Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy; CNR Institute of Neuroscience, 20129 Milan, Italy. Electronic address:

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December 2019

Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging.

Stem Cell Reports 2019 11 3;13(5):832-846. Epub 2019 Oct 3.

Proteomic of Iron Metabolism Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy; Vita-Salute San Raffaele University, Via Olgettina 58, 20132 Milan, Italy. Electronic address:

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November 2019

Direct Neuronal Reprogramming Reveals Unknown Functions for Known Transcription Factors.

Front Neurosci 2019 26;13:283. Epub 2019 Mar 26.

Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

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March 2019

KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes.

Cell Rep 2018 10;25(4):988-1001

Department of Experimental Oncology, IEO, European Institute of Oncology IRCCS, 20139 Milan, Italy; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy. Electronic address:

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October 2018

Recipes for Making Neurons using Combinatorial Forward Genetics.

Cell Stem Cell 2018 07;23(1):13-14

Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy; Vita-Salute San Raffaele University, 20132 Milan, Italy.

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July 2018

Folic Acid Exposure Rescues Spina Bifida Aperta Phenotypes in Human Induced Pluripotent Stem Cell Model.

Sci Rep 2018 02 13;8(1):2942. Epub 2018 Feb 13.

Translational Cardiomyology Laboratory, Stem Cell Biology and Embryology Unit, Stem Cell Institute, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

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February 2018

AAV-PHP.B-Mediated Global-Scale Expression in the Mouse Nervous System Enables GBA1 Gene Therapy for Wide Protection from Synucleinopathy.

Mol Ther 2017 Dec 10;25(12):2727-2742. Epub 2017 Aug 10.

Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy; National Research Council (CNR), Institute of Neuroscience, 20129 Milan, Italy. Electronic address:

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December 2017

mSEL-1L deficiency affects vasculogenesis and neural stem cell lineage commitment.

J Cell Physiol 2018 04 12;233(4):3152-3163. Epub 2017 Sep 12.

Institute of Genetic and Biomedical Research (IRGB) of the National Research Council, Milano, Italy.

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April 2018

Reprogramming of somatic cells: iPS and iN cells.

Authors:
Vania Broccoli

Prog Brain Res 2017 6;230:53-68. Epub 2017 Feb 6.

San Raffaele Scientific Institute, Milan, Italy; CNR-Institute of Neuroscience, Milan, Italy. Electronic address:

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May 2018

Human Endometrial Stromal Cells Are Highly Permissive To Productive Infection by Zika Virus.

Sci Rep 2017 03 10;7:44286. Epub 2017 Mar 10.

Viral Pathogens and Biosafety Unit, Division of Immunology, Transplantation and Infectious Diseases, San Raffaele Scientific Institute, Milan, Italy.

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March 2017

Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.

Stem Cells Transl Med 2017 02 16;6(2):352-368. Epub 2016 Sep 16.

San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele, Milan, Italy.

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February 2017

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.

EMBO Mol Med 2016 10 4;8(10):1197-1211. Epub 2016 Oct 4.

Proteomics of Iron Metabolism Unit, Division of Neuroscience San Raffaele Scientific Institute, Milan, Italy Vita-Salute San Raffaele University, Milan, Italy

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October 2016

Histone modifications controlling native and induced neural stem cell identity.

Curr Opin Genet Dev 2015 Oct 24;34:95-101. Epub 2015 Oct 24.

Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.

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October 2015

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.

Neurobiol Dis 2015 Sep 30;81:144-53. Epub 2015 Mar 30.

San Raffaele Scientific Institute, Division of Neuroscience, 20132 Milano, Italy; University Vita-Salute San Raffaele, 20132 Milano, Italy. Electronic address:

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September 2015

Overcoming the hurdles for a reproducible generation of human functionally mature reprogrammed neurons.

Exp Biol Med (Maywood) 2015 Jun 18;240(6):787-94. Epub 2015 Mar 18.

Neuroimmunology Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy.

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June 2015

Human induced pluripotent stem cells differentiate into insulin-producing cells able to engraft in vivo.

Acta Diabetol 2015 Dec 4;52(6):1025-35. Epub 2015 Mar 4.

Diabetes Research Institute, IRCCS San Raffaele Scientific Institute, Via Olgettina 60, 20132, Milan, Italy.

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December 2015

Direct conversion of fibroblasts into functional astrocytes by defined transcription factors.

Stem Cell Reports 2015 Jan 31;4(1):25-36. Epub 2014 Dec 31.

Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan 20132, Italy. Electronic address:

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January 2015

Modeling physiological and pathological human neurogenesis in the dish.

Front Neurosci 2014 24;8:183. Epub 2014 Jul 24.

Stem Cells and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute Milan, Italy.

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August 2014

Primary skin fibroblasts as a model of Parkinson's disease.

Mol Neurobiol 2012 Aug 19;46(1):20-7. Epub 2012 Feb 19.

Experimental Neurology, Department of Neurology, Goethe University Hospital, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.

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August 2012

Wnt signaling has opposing roles in the developing and the adult brain that are modulated by Hipk1.

Cereb Cortex 2012 Oct 17;22(10):2415-27. Epub 2011 Nov 17.

Neuroimmunology Unit, Institute of Experimental Neurology, Division of Neuroscience San Raffaele Scientific Institute, 20132 Milan, Italy.

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October 2012

Setting a highway for converting skin into neurons.

J Mol Cell Biol 2011 Dec 21;3(6):322-3. Epub 2011 Oct 21.

San Raffaele Scientific Institute, Via Olgettina 58, Milan 20132, Italy.

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December 2011

A microRNA-based system for selecting and maintaining the pluripotent state in human induced pluripotent stem cells.

Stem Cells 2011 Nov;29(11):1684-95

Division of Neuroscience, Stem Cells and Neurogenesis Unit, San Raffaele Scientific Institute, Milan, Italy.

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November 2011

GABAergic neuronal precursor grafting: implications in brain regeneration and plasticity.

Neural Plast 2011 20;2011:384216. Epub 2011 Jun 20.

Department of Cell Therapy and Regenerative Medicine, Andalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), 41092 Seville, Spain.

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November 2011

Adult human Müller glia cells are a highly efficient source of rod photoreceptors.

Stem Cells 2011 Feb;29(2):344-56

Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

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February 2011

An ES-like pluripotent state in FGF-dependent murine iPS cells.

PLoS One 2010 Dec 30;5(12):e16092. Epub 2010 Dec 30.

Stem Cells and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.

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December 2010

The apical complex couples cell fate and cell survival to cerebral cortical development.

Neuron 2010 Apr;66(1):69-84

Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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April 2010

Xenopus Bsx links daily cell cycle rhythms and pineal photoreceptor fate.

Proc Natl Acad Sci U S A 2010 Apr 22;107(14):6352-7. Epub 2010 Mar 22.

Unita' di Biologia Cellulare e dello Sviluppo, Dipartimento di Biologia, Universita' di Pisa, Pisa 56127, Italy.

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April 2010

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.

Hum Mol Genet 2009 Dec 9;18(23):4590-602. Epub 2009 Sep 9.

Division of Neuroscience, San Raffaele Rett Research Center, San Raffaele Scientific Institute, Milan 20132, Italy.

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December 2009

Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity.

Dev Biol 2009 Oct 21;334(1):59-71. Epub 2009 Jul 21.

Stem Cell and Neurogenesis Unit, Division of Neuroscience, San Raffaele Scientific Institute, 20132, Milan, Italy.

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October 2009

Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons.

J Neurosci 2008 Oct;28(42):10674-86

Department of Biological and Technological Research, San Raffaele Scientific Institute, Stem Cell Research Institute, Vita e Salute San Raffaele University, 20132 Milan, Italy.

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October 2008

Efficient genetic reprogramming of unmodified somatic neural progenitors uncovers the essential requirement of Oct4 and Klf4.

Stem Cells Dev 2009 Jun;18(5):707-16

Stem Cell Research Department, San Raffaele Scientific Institute, Via Olgettina 58, Milan, Italy.

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June 2009

CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.

J Biol Chem 2008 Oct 13;283(44):30101-11. Epub 2008 Aug 13.

Department of Structural and Functional Biology, University of Insubria, Via Alberto da Giussano 12, 21052 Busto Arsizio (VA), Italy.

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October 2008

FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.

Exp Cell Res 2007 Nov 7;313(19):3959-70. Epub 2007 Sep 7.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein Zuid 10, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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November 2007

Direct derivation of neural rosettes from cloned bovine blastocysts: a model of early neurulation events and neural crest specification in vitro.

Stem Cells 2006 Nov 24;24(11):2514-21. Epub 2006 Aug 24.

Laboratorio di Tecnologie della Riproduzione, Istituto Sperimentale Italiano Lazzaro Spallanzani, CIZ s.r.l., Cremona, Italy.

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November 2006

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.

Hum Mol Genet 2005 Dec 13;14(23):3565-77. Epub 2005 Oct 13.

Institut de Neuropatologia, Hospital Universitari de Bellvitge, Department de Biologia Cel.lular i Anatomia Patologica, Facultat de Medicina, Universitat de Barcelona, Spain.

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December 2005

Neuroacanthocytosis: new developments in a neglected group of dementing disorders.

J Neurol Sci 2005 Mar 7;229-230:171-86. Epub 2005 Jan 7.

Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität Marchioninistr. 15 D-81366 Munich, Germany.

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March 2005

The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain.

J Comp Neurol 2005 Mar;483(3):292-303

Nina Ireland Laboratory of Developmental Neurobiology, Department of Psychiatry, University of California, San Francisco, San Francisco, California 94158-2611, USA.

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March 2005

Bsx, an evolutionary conserved Brain Specific homeoboX gene expressed in the septum, epiphysis, mammillary bodies and arcuate nucleus.

Gene Expr Patterns 2004 Jan;4(1):47-51

Stem Cell Research Institute, DIBIT, San Raffaele Science Park Via Olgettina 58, Milan 20132, Italy.

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January 2004

Role of citron kinase in dendritic morphogenesis of cortical neurons.

Brain Res Bull 2003 May;60(4):319-27

Department of Genetics, Biology and Biochemistry, University of Torino, Via Santena 5 bis, 10126, Torino, Italy.

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May 2003

Location and size of dopaminergic and serotonergic cell populations are controlled by the position of the midbrain-hindbrain organizer.

J Neurosci 2003 May;23(10):4199-207

Max-Planck-Institute of Psychiatry, 80804 Munich, Germany, and GSF-National Research Center for Environment and Health, Technical University Munich, Institute of Developmental Genetics, 85758 Oberschleissheim, Germany.

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May 2003

Mapping Wnt/beta-catenin signaling during mouse development and in colorectal tumors.

Proc Natl Acad Sci U S A 2003 Mar 7;100(6):3299-304. Epub 2003 Mar 7.

Histology and Embryology Section, Department of Histology, Microbiology, and Medical Biotechnology, University of Padua, 35131 Padua, Italy.

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March 2003

Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain.

Mech Dev 2002 Jan;110(1-2):203-7

Department of Human Genetics, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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January 2002