Lista de obras - Vania Broccoli - Dominio Público Uruguay

1 Body Plan Genes and Human Malformation

article

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 1994

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

artículo científico publicado en 2001

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

artículo científico publicado en 2016

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

artículo científico publicado en 2000

Direct conversion of fibroblasts into functional astrocytes by defined transcription factors

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

Evolution of Emx genes and brain development in vertebrates

artículo científico publicado en 1997

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

artículo científico publicado en 2007

FOXG1 is responsible for the congenital variant of Rett syndrome

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Histone modifications controlling native and induced neural stem cell identity

artículo científico

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

artículo científico publicado en 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

artículo científico publicado en 2015

Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2002

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

artículo científico publicado en 2010

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

artículo científico publicado en 2000

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2021

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

artículo científico publicado en 2015

Modeling physiological and pathological human neurogenesis in the dish

artículo científico

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

artículo científico publicado en 2004

MyT1 Counteracts the Neural Progenitor Program to Promote Vertebrate Neurogenesis.

artículo científico publicado en 2016

Necdin mediates skeletal muscle regeneration by promoting myoblast survival and differentiation

artículo científico publicado en 2007

Neuroacanthocytosis: new developments in a neglected group of dementing disorders

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Nuclear receptors: Oxysterols detour to neurodevelopment.

artículo científico publicado en 2013

Otx genes in brain morphogenesis

artículo científico publicado en 2001

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Primary skin fibroblasts as a model of Parkinson's disease

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

Remote control of induced dopaminergic neurons in parkinsonian rats.

artículo científico publicado en 2014

Reprogramming of somatic cells: iPS and iN cells

artículo científico publicado en 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

artículo científico publicado en 2021

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

artículo científico publicado en 2022

Setting a highway for converting skin into neurons

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 1996

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

Xenopus Bsx links daily cell cycle rhythms and pineal photoreceptor fate

artículo científico publicado en 2010

Zrf1 is required to establish and maintain neural progenitor identity

artículo científico publicado en 2014

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

artículo científico publicado en 1995

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

artículo científico publicado en 2017

Lista de obras de Vania Broccoli

1 Body Plan Genes and Human Malformation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Direct conversion of fibroblasts into functional astrocytes by defined transcription factors

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

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

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

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

Evolution of Emx genes and brain development in vertebrates

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

FOXG1 is responsible for the congenital variant of Rett syndrome

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

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

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

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

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

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

Histone modifications controlling native and induced neural stem cell identity

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

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

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

Hypogonadotropic hypogonadism and peripheral neuropathy in Ebf2-null mice

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

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

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

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

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

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

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

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

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

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

Modeling physiological and pathological human neurogenesis in the dish

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

MyT1 Counteracts the Neural Progenitor Program to Promote Vertebrate Neurogenesis.

Necdin mediates skeletal muscle regeneration by promoting myoblast survival and differentiation

Neuroacanthocytosis: new developments in a neglected group of dementing disorders

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

Nuclear receptors: Oxysterols detour to neurodevelopment.

Otx genes in brain morphogenesis

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

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

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

Primary skin fibroblasts as a model of Parkinson's disease

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

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

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

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

Remote control of induced dopaminergic neurons in parkinsonian rats.

Reprogramming of somatic cells: iPS and iN cells

Role of citron kinase in dendritic morphogenesis of cortical neurons

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

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

Setting a highway for converting skin into neurons

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

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

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

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

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

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

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