Lucienne Ronco
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View article: Meeting report: The FSHD society 2025 international research congress
Meeting report: The FSHD society 2025 international research congress Open
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder marked by progressive muscle weakness and disability throughout life. Affecting about one million people worldwide, FSHD is among the most common forms of muscular dystrop…
View article: Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients
Novel and less invasive biomarker assays to measure liver ATP7B in Wilson disease patients Open
Novel therapies for Wilson disease (WD) will require appropriate biomarkers and clinically relevant endpoints to demonstrate therapeutic efficacy. We aimed to develop robust, minimally invasive biomarker assays to assess target engagement …
View article: Supplementary Methods, Figure Legends from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein
Supplementary Methods, Figure Legends from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein Open
PDF file - 115K
View article: Supplementary Figures 1 - 6 from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein
Supplementary Figures 1 - 6 from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein Open
PDF file - 1496K, Figure S1 - control expression and SMM hits representation; luciferase assay with MITF for BRD32048 and luciferase assay using BRD32048 analogs. Figure S2 - SPR data control graphs for TBX21 reference experiment. Figure S…
View article: Supplementary Methods, Figure Legends from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein
Supplementary Methods, Figure Legends from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein Open
PDF file - 115K
View article: Data from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein
Data from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein Open
Members of the ETS transcription factor family have been implicated in several cancers, where they are often dysregulated by genomic derangement. ETS variant 1 (ETV1) is an ETS factor gene that undergoes chromosomal translocation in prosta…
View article: Supplementary Figures 1 - 6 from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein
Supplementary Figures 1 - 6 from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein Open
PDF file - 1496K, Figure S1 - control expression and SMM hits representation; luciferase assay with MITF for BRD32048 and luciferase assay using BRD32048 analogs. Figure S2 - SPR data control graphs for TBX21 reference experiment. Figure S…
View article: Data from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein
Data from A Small Molecule That Binds and Inhibits the ETV1 Transcription Factor Oncoprotein Open
Members of the ETS transcription factor family have been implicated in several cancers, where they are often dysregulated by genomic derangement. ETS variant 1 (ETV1) is an ETS factor gene that undergoes chromosomal translocation in prosta…
View article: The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study Open
Background Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (> 2…
View article: Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI
Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI Open
This study provides Class II evidence that quantitative WB-MSK-MRI findings associate with FSHD1 severity measured using established functional assessments.
View article: Social communication in fragile X syndrome: pilot examination of the Brief Observation of Social Communication Change (BOSCC)
Social communication in fragile X syndrome: pilot examination of the Brief Observation of Social Communication Change (BOSCC) Open
Background Social communication is a key area of difficulty in fragile X syndrome (FXS) and there are not yet adequate outcome measurement tools. Appropriate outcome measures for FXS have been identified as a key area of research interest …
View article: The Feasibility and Utility of Hair Follicle Sampling To Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome
The Feasibility and Utility of Hair Follicle Sampling To Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome Open
Background: Fragile X syndrome (FXS) is the most common cause inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repe…
View article: FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability
FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability Open
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is an X-linked, neurodevelopmental disorder caused by a CGG trinucleotide repeat expansion in the 5′ untranslated region (UTR) of the Fragile X Ment…
View article: Phase 1 clinical trial of losmapimod in facioscapulohumeral dystrophy: Safety, tolerability, pharmacokinetics, and target engagement
Phase 1 clinical trial of losmapimod in facioscapulohumeral dystrophy: Safety, tolerability, pharmacokinetics, and target engagement Open
Aims Evaluate safety, tolerability, pharmacokinetics (PK) and target engagement (TE) of losmapimod in blood and muscle in facioscapulohumeral dystrophy (FSHD). Methods This study included Part A: 10 healthy volunteers randomized to single …
View article: A High Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung Injury during the COVID-19 pandemic
A High Content Screen for Mucin-1-Reducing Compounds Identifies Fostamatinib as a Candidate for Rapid Repurposing for Acute Lung Injury during the COVID-19 pandemic Open
Summary Drug repurposing is the only method capable of delivering treatments on the shortened time-scale required for patients afflicted with lung disease arising from SARS-CoV-2 infection. Mucin-1 (MUC1), a membrane-bound molecule express…
View article: p38α Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy
p38α Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy Open
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the loss of repression at the D4Z4 locus leading to aberrant double homeobox 4 (DUX4) expression in skeletal muscle. Activation of this early embryonic transcription factor results…
View article: P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy
P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy Open
FSHD is caused by the loss of repression at the D4Z4 locus leading to DUX4 expression in skeletal muscle, activation of its early embryonic transcriptional program and muscle fiber death. While progress toward understanding the signals dri…
View article: A Next Generation Connectivity Map: L1000 Platform And The First 1,000,000 Profiles
A Next Generation Connectivity Map: L1000 Platform And The First 1,000,000 Profiles Open
SUMMARY We previously piloted the concept of a Connectivity Map (CMap), whereby genes, drugs and disease states are connected by virtue of common gene-expression signatures. Here, we report more than a 1,000-fold scale-up of the CMap as pa…
View article: Development and Validation of a Mass Spectrometry–Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease
Development and Validation of a Mass Spectrometry–Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease Open
Mucin-1 kidney disease, previously described as medullary cystic kidney disease type 1 (MCKD1, OMIM 174000), is an autosomal dominant tubulointerstitial kidney disease recently shown to be caused by a single-base insertion within the varia…