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List of works by Vania Broccoli

1 Body Plan Genes and Human Malformation

article

A Human Bi-specific Antibody against Zika Virus with High Therapeutic Potential

scientific article published on September 2017

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

scientific article

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

scientific article published on 10 August 2017

ARX regulates cortical intermediate progenitor cell expansion and upper layer neuron formation through repression of Cdkn1c

scientific article

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

scientific article (publication date: February 2011)

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

scientific article (publication date: 2010)

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

scientific article

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

scientific article published on 21 July 2009

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

scientific article published on October 2008

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

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

scientific article

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

scientific article

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

scientific article published on 26 August 2012

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

scientific article

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

scientific article

Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating Retinitis Pigmentosa by intravitreal AAV9.PHP.B-based delivery.

scientific article published on 21 December 2017

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase

scientific article

Cloning and expression of noz1, a zebrafish zinc finger gene related to Drosophila nocA.

scientific article published in June 2001

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

scientific article published on 11 August 2016

Defective neurogenesis in citron kinase knockout mice by altered cytokinesis and massive apoptosis

scientific article

Direct conversion of fibroblasts into functional astrocytes by defined transcription factors

scientific article

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

scientific article published on 24 August 2006

Dmbx1 is a paired-box containing gene specifically expressed in the caudal most brain structures

scientific article

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

scientific article published in June 2009

Embryonic stem-derived versus somatic neural stem cells: a comparative analysis of their developmental potential and molecular phenotype

scientific article published on 9 December 2005

Evolution of Emx genes and brain development in vertebrates

scientific article (publication date: 22 December 1997)

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

scientific article

FOXG1 is responsible for the congenital variant of Rett syndrome

scientific article

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

scientific article published on 13 February 2018

Frataxin gene editing rescues Friedreich's ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

scientific article published on 21 August 2020

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

scientific article published on 20 June 2011

Gene therapy approaches in the non-human primate model of Parkinson's disease

scientific article published on 27 January 2017

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

scientific article published on 16 September 2016

Heparin prevents Zika virus induced-cytopathic effects in human neural progenitor cells

scientific article

Histone modifications controlling native and induced neural stem cell identity

scientific article published on 15 October 2015

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

scientific article (publication date: 10 March 2017)

Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.

scientific article published on 12 August 2013

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

scientific article published on 4 March 2015

Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice

scientific article published in January 2003

Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses

scientific article

Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation

scientific journal article

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

scientific article

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

scientific article published in January 2002

Long-term culture and differentiation of CNS precursors derived from anterior human neural rosettes following exposure to ventralizing factors

scientific article published on 17 February 2010

MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives

scientific article published in November 2000

MICAL2 is a novel human cancer gene controlling mesenchymal to epithelial transition involved in cancer growth and invasion.

scientific article published on 12 December 2015

Magic-factor 1, a partial agonist of Met, induces muscle hypertrophy by protecting myogenic progenitors from apoptosis

scientific article

Microglia-specific overexpression of α-synuclein leads to severe dopaminergic neurodegeneration by phagocytic exhaustion and oxidative toxicity

scientific article published on 29 October 2021

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

scientific article published on 30 March 2015

Modeling physiological and pathological human neurogenesis in the dish

scientific article published on 24 July 2014

Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons

scientific article

MyT1 Counteracts the Neural Progenitor Program to Promote Vertebrate Neurogenesis.

scientific article published on October 2016

Necdin mediates skeletal muscle regeneration by promoting myoblast survival and differentiation

scientific article

Neuroacanthocytosis: new developments in a neglected group of dementing disorders

scientific article

Neuroprotection of Brain Cells by Lipoic Acid Treatment after Cellular Stress.

scientific article

Nuclear receptors: Oxysterols detour to neurodevelopment.

scientific article published in February 2013

Otx genes in brain morphogenesis

scientific article

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

scientific article

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity

scientific article published on 15 March 2018

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models

scientific article published in February 2018

Primary skin fibroblasts as a model of Parkinson's disease

scientific article

Rapid Conversion of Fibroblasts into Functional Forebrain GABAergic Interneurons by Direct Genetic Reprogramming

scientific article published on 28 October 2015

Rapid and efficient CRISPR/Cas9 gene inactivation in human neurons during human pluripotent stem cell differentiation and direct reprogramming

scientific article published on 18 November 2016

Rapid generation of functional dopaminergic neurons from human induced pluripotent stem cells through a single-step procedure using cell lineage transcription factors

scientific article published on 8 May 2013

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model.

scientific article published on 6 January 2011

Remote control of induced dopaminergic neurons in parkinsonian rats.

scientific article

Reprogramming of somatic cells: iPS and iN cells

scientific article published on 6 February 2017

Role of citron kinase in dendritic morphogenesis of cortical neurons

scientific journal article

SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

scientific article published on 30 June 2021

Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome

scientific article published on 10 January 2022

Setting a highway for converting skin into neurons

scientific article published on 21 October 2011

Site-specific integration and tailoring of cassette design for sustainable gene transfer.

scientific article published on 21 August 2011

Tbr2 directs conversion of radial glia into basal precursors and guides neuronal amplification by indirect neurogenesis in the developing neocortex

scientific journal article

Tbr2-positive intermediate (basal) neuronal progenitors safeguard cerebral cortex expansion by controlling amplification of pallial glutamatergic neurons and attraction of subpallial GABAergic interneurons

scientific article

The Tbr2 Molecular Network Controls Cortical Neuronal Differentiation Through Complementary Genetic and Epigenetic Pathways

scientific article published on 6 September 2016

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

scientific article

The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations

scientific article

The homeobox gene Arx is a novel positive regulator of embryonic myogenesis.

scientific article

The simultaneous loss of Arx and Pax4 genes promotes a somatostatin-producing cell fate specification at the expense of the alpha- and beta-cell lineages in the mouse endocrine pancreas

scientific journal article

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

scientific article

Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy.

scientific article published on June 2012

Two factor-based reprogramming of rodent and human fibroblasts into Schwann cells.

scientific article published on 7 February 2017

Vascular endothelial growth factor messenger ribonucleic acid expression in human ovarian and endometrial cancer

scientific article published on 01 December 1996

Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological defects in mouse models of Rett syndrome

scientific article published on 24 March 2020

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

scientific article published on 17 November 2011

Xenopus Bsx links daily cell cycle rhythms and pineal photoreceptor fate

scientific article

Zrf1 is required to establish and maintain neural progenitor identity

scientific article published on January 2014

c-otx2 is expressed in two different phases of gastrulation and is sensitive to retinoic acid treatment in chick embryo.

scientific article published in January 1995

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

scientific article

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