Ana Ferreiro
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View article: R405W Desmin Knock‐In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy
R405W Desmin Knock‐In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy Open
Background Mutations in the desmin gene cause skeletal myopathies and cardiomyopathies. The objective of this study was to elucidate the molecular pathology induced by the expression of R405W mutant desmin in murine skeletal muscle. Method…
View article: 404PFirst clinical trial in SELENON-related myopathy: analysis of the phase II-III pilot SELNAC study
404PFirst clinical trial in SELENON-related myopathy: analysis of the phase II-III pilot SELNAC study Open
View article: Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel Open
Background: Congenital myopathies are a group of neuromuscular disorders that typically present at birth or early childhood with hypotonia and non-progressive or slowly progressive muscle weakness. They are classically subclassified by cha…
View article: Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age
Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age Open
Background Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non‐progressive musc…
View article: Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis Open
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confron…
View article: SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA
SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA Open
View article: 269th ENMC international workshop: 10 years of clinical trials in Duchenne muscular dystrophy – What have we learned? 9–11 December 2022, Hoofddorp, The Netherlands
269th ENMC international workshop: 10 years of clinical trials in Duchenne muscular dystrophy – What have we learned? 9–11 December 2022, Hoofddorp, The Netherlands Open
There are multiple avenues for therapeutic development in Duchenne muscular dystrophy (DMD), which are highlighted in the first section of this report for the "10 years of Clinical trials in DMD - What have we learned?" workshop. This repo…
View article: Sex-Specific Patterns of Diaphragm Phospholipid Content and Remodeling during Aging and in a Model of SELENON-Related Myopathy
Sex-Specific Patterns of Diaphragm Phospholipid Content and Remodeling during Aging and in a Model of SELENON-Related Myopathy Open
Growing evidence shows that the lipid bilayer is a key site for membrane interactions and signal transduction. Surprisingly, phospholipids have not been widely studied in skeletal muscles, although mutations in genes involved in their bios…
View article: Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies
Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies Open
A single missense variant of the TMPO/LAP2α gene, encoding LAP2 proteins, has been associated with cardiomyopathy in two brothers. To further evaluate its role in cardiac muscle, we included TMPO in our cardiomyopathy diagnostic gene panel…
View article: P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* Open
View article: Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains Open
View article: Desmin Modulates Muscle Cell Adhesion and Migration
Desmin Modulates Muscle Cell Adhesion and Migration Open
Cellular adhesion and migration are key functions that are disrupted in numerous diseases. We report that desmin, a type-III muscle-specific intermediate filament, is a novel cell adhesion regulator. Expression of p.R406W mutant desmin, id…
View article: A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course Open
The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca 2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca 2+ -dependent muscle contraction. Abnormal RyR1 activity compromises normal…
View article: Phospholipids: Identification and Implication in Muscle Pathophysiology
Phospholipids: Identification and Implication in Muscle Pathophysiology Open
Phospholipids (PLs) are amphiphilic molecules that were essential for life to become cellular. PLs have not only a key role in compartmentation as they are the main components of membrane, but they are also involved in cell signaling, cell…
View article: Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases
Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases Open
Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent identification of mutations in the TRIP4 and ASCC1 genes, encoding, respectively, …
View article: Calcium and Redox Liaison: A Key Role of Selenoprotein N in Skeletal Muscle
Calcium and Redox Liaison: A Key Role of Selenoprotein N in Skeletal Muscle Open
Selenoprotein N (SEPN1) is a type II glycoprotein of the endoplasmic reticulum (ER) that senses calcium levels to tune the activity of the sarcoplasmic reticulum calcium pump (SERCA pump) through a redox-mediated mechanism, modulating ER c…
View article: Clinical and Molecular Spectrum Associated with <i>COL6A3</i> c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies
Clinical and Molecular Spectrum Associated with <i>COL6A3</i> c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies Open
Background: Dominant and recessive autosomal pathogenic variants in the three major genes ( COL6A1-A2-A3) encoding the extracellular matrix protein collagen VI underlie a group of myopathies ranging from early-onset severe conditions (Ullr…
View article: Making sense of missense variants in TTN-related congenital myopathies
Making sense of missense variants in TTN-related congenital myopathies Open
View article: Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice
Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice Open
Background: Mutations in the human desmin gene cause myopathies and cardiomyopathies. This study aimed to elucidate molecular mechanisms initiated by the heterozygous R406W-desmin mutation in the development of a severe and early-onset car…
View article: The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy Open
Our results inform clinical practice, improving diagnosis and management, and represent a major breakthrough for clinical trial readiness in this not so rare disease.
View article: Genotype–phenotype correlations in recessive titinopathies
Genotype–phenotype correlations in recessive titinopathies Open
View article: Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy Open
View article: ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy Open
Objective Recently, the ASC‐1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC‐1 gene TRIP4 have been associated with SMA or congenital my…
View article: 240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25–27 January 2019, Hoofddorp, The Netherlands
240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25–27 January 2019, Hoofddorp, The Netherlands Open
View article: Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies Open
Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods: We …
View article: SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance Open
View article: Uso del Suelo y caracterización productiva al 2019. Departamentos General San Martín, Rìo Segundo, Tercero Arriba y Unión. Cuenca Lechera central de la Provincia de Córdoba
Uso del Suelo y caracterización productiva al 2019. Departamentos General San Martín, Rìo Segundo, Tercero Arriba y Unión. Cuenca Lechera central de la Provincia de Córdoba Open
La superficie agrícola y ganadera fue variando significativamente durante los últimos años, produciendo cambios relevantes en los sistemas productivos predominantes y en la conformación de la red agroalimentaria en general. Actualizar y am…
View article: Structural and biophysical characterisation of titin missense variants in genetic myopathies and cardiomyopathies
Structural and biophysical characterisation of titin missense variants in genetic myopathies and cardiomyopathies Open
View article: Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Congenital Titinopathy: Comprehensive characterization and pathogenic insights Open
Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. Methods Using massively parallel sequencing we identified 30 patients from 27 families …
View article: Novel mutations in <i>DNAJB6</i> cause <scp>LGMD</scp>1D and distal myopathy in French families
Novel mutations in <i>DNAJB6</i> cause <span>LGMD</span>1D and distal myopathy in French families Open
Background and purpose The aim was to determine the genetic background of unknown muscular dystrophy in five French families. Methods Twelve patients with limb girdle muscular dystrophy or distal myopathy were clinically evaluated. Gene mu…