List of works - Barbara Bardoni

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization

scientific article

A TaqI RFLP detecting single copy fragment (G80) from chromosome 7 p13-p15 (D7S373).

scientific article

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

scientific article published on 01 October 1991

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

scientific article

A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model

scientific article published on 7 September 2011

A new cis-acting motif is required for the axonal SMN-dependent Anxa2 mRNA localization.

scientific article published on 3 March 2017

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

scientific article

A novel function for fragile X mental retardation protein in translational activation

scientific journal article

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.

scientific article

Agonist-induced Functional Analysis and Cell Sorting coupled with single-cell transcriptomics characterizes cell subtypes in normal and pathological brain

scientific article published on 24 September 2020

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

scientific article

Analysis of domains affecting intracellular localization of the FMRP protein.

scientific article published in January 1997

Applied RNAi: from fundamental research to therapeutic applications.

scientific article published on 18 November 2014

Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.

scientific article published in January 2000

Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles

scholarly article

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.

scientific article published on 27 March 2014

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

scientific article published in June 2003

CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion

scientific article

Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era

scientific article published on 18 December 2019

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

scientific article published on 01 December 1989

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

scientific article published on 01 December 1989

Dax-1 knockdown in mouse embryonic stem cells induces loss of pluripotency and multilineage differentiation

scientific article

Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins.

scientific article

Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis

scientific article published on 24 September 2016

Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal

scientific article published on 01 January 1995

Editorial

Exploration and characterisation of the phenotypic and genetic profiles of patients with early onset schizophrenia associated with autism spectrum disorder and their first-degree relatives: a French multicentre case series study protocol (GenAuDiss)

article

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

scientific article published on 9 February 2005

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

scientific article

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons

scientific article published on 27 May 2016

Fragile X Mental Retardation Protein: To Be or Not to Be a Translational Enhancer

scientific article published on 11 December 2018

Fragile X Syndrome: from molecular pathology to therapy

scientific article published on 22 January 2014

Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development

scientific article published on 11 February 2015

Fragile X related protein 1 isoforms differentially modulate the affinity of fragile X mental retardation protein for G-quartet RNA structure ⬇️

scientific journal article

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

scientific article published on 01 May 1993

Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo

scientific journal article

HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein

scientific article published on 01 July 2018

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

scientific article

Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario.

scientific article published on January 2012

Involvement of Phosphodiesterase 2A Activity in the Pathophysiology of Fragile X Syndrome

scientific article published on 01 July 2019

Is bilateral congenital anorchia genetically determined?

scientific article published on 01 October 1999

Isolation and characterization of a family of sequences dispersed on the human X chromosome

scientific article published on 01 July 1988

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene

scientific article published on 01 August 1992

Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.

scientific article

Modeling Fragile X Syndrome in Drosophila.

scientific article

Modeling Fragile X syndrome in neurogenesis: An unexpected phenotype and a novel tool for future therapies

scientific article published on 31 January 2017

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation ⬇️

scientific article published on October 31, 1997

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes

scientific article

New Insights Into the Role of Ca2 Protein Family in Calcium Flux Deregulation in -KO Neurons

scientific article published on 27 September 2018

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

scientific article

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

scientific article published on 01 January 2000

Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder

scientific article published in 2022

Quantitative phosphoproteomics of murine Fmr1-KO cell lines provides new insights into FMRP-dependent signal transduction mechanisms.

scientific article published on 15 September 2014

Role of phosphodiesterases in the pathophysiology of neurodevelopmental disorders

scientific article published on 07 January 2021

Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation.

scientific article published on 22 February 2018

The FMRP/GRK4 mRNA interaction uncovers a new mode of binding of the Fragile X mental retardation protein in cerebellum

scientific article published on 6 August 2015

The Fragile X mental retardation protein ⬇️

scientific article published on November 1, 2001

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

scientific article published in September 2003

The Search for an Effective Therapy to Treat Fragile X Syndrome: Dream or Reality?

scientific article published on 6 November 2017

The fragile X syndrome: exploring its molecular basis and seeking a treatment.

scientific article

The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons

scientific journal article

Translating molecular advances in Down syndrome and Fragile X syndrome into therapies

scientific article published on 07 June 2018

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

scientific article published on 01 October 1990

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers

scientific article published on April 1995

Two sisters with 45,X karyotype: influence of genomic imprinting on phenotype and cognitive profile

scientific article published on 01 April 2002

Visual search of neuropil-enriched RNAs from brain in situ hybridization data through the image analysis pipeline hippo-ATESC.

scientific article

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

scientific article

X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region

scientific article published on 01 May 1991

[Genomic imprinting in two adolescent sisters with Turner's syndrome]

scientific article published on 01 October 2001

List of works by Barbara Bardoni

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization

A TaqI RFLP detecting single copy fragment (G80) from chromosome 7 p13-p15 (D7S373).

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

A metabolomic and systems biology perspective on the brain of the fragile X syndrome mouse model

A new cis-acting motif is required for the axonal SMN-dependent Anxa2 mRNA localization.

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

A novel function for fragile X mental retardation protein in translational activation

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.

Agonist-induced Functional Analysis and Cell Sorting coupled with single-cell transcriptomics characterizes cell subtypes in normal and pathological brain

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Analysis of domains affecting intracellular localization of the FMRP protein.

Applied RNAi: from fundamental research to therapeutic applications.

Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.

Biochemical evidence for the association of fragile X mental retardation protein with brain polyribosomal ribonucleoparticles

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome.

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion

Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era

Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia

Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl

Dax-1 knockdown in mouse embryonic stem cells induces loss of pluripotency and multilineage differentiation

Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins.

Depletion of the Fragile X Mental Retardation Protein in Embryonic Stem Cells Alters the Kinetics of Neurogenesis

Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal

Editorial

Exploration and characterisation of the phenotypic and genetic profiles of patients with early onset schizophrenia associated with autism spectrum disorder and their first-degree relatives: a French multicentre case series study protocol (GenAuDiss)

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons

Fragile X Mental Retardation Protein: To Be or Not to Be a Translational Enhancer

Fragile X Syndrome: from molecular pathology to therapy

Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development

Fragile X related protein 1 isoforms differentially modulate the affinity of fragile X mental retardation protein for G-quartet RNA structure ⬇️

Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq

Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo

HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario.

Involvement of Phosphodiesterase 2A Activity in the Pathophysiology of Fragile X Syndrome

Is bilateral congenital anorchia genetically determined?

Isolation and characterization of a family of sequences dispersed on the human X chromosome

Kallmann syndrome due to a translocation resulting in an X/Y fusion gene

Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.

Modeling Fragile X Syndrome in Drosophila.

Modeling Fragile X syndrome in neurogenesis: An unexpected phenotype and a novel tool for future therapies

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation ⬇️

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes

New Insights Into the Role of Ca2 Protein Family in Calcium Flux Deregulation in -KO Neurons

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder

Quantitative phosphoproteomics of murine Fmr1-KO cell lines provides new insights into FMRP-dependent signal transduction mechanisms.

Role of phosphodiesterases in the pathophysiology of neurodevelopmental disorders

Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation.

The FMRP/GRK4 mRNA interaction uncovers a new mode of binding of the Fragile X mental retardation protein in cerebellum

The Fragile X mental retardation protein ⬇️

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

The Search for an Effective Therapy to Treat Fragile X Syndrome: Dream or Reality?

The fragile X syndrome: exploring its molecular basis and seeking a treatment.

The nuclear microspherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons

Translating molecular advances in Down syndrome and Fragile X syndrome into therapies

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers

Two sisters with 45,X karyotype: influence of genomic imprinting on phenotype and cognitive profile

Visual search of neuropil-enriched RNAs from brain in situ hybridization data through the image analysis pipeline hippo-ATESC.

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region

[Genomic imprinting in two adolescent sisters with Turner's syndrome]