Serena Baratto
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View article: Genetic Deletion of the Purinergic Receptor <i>P2rx7</i> Worsens the Phenotype of α-Sarcoglycan Muscular Dystrophy
Genetic Deletion of the Purinergic Receptor <i>P2rx7</i> Worsens the Phenotype of α-Sarcoglycan Muscular Dystrophy Open
Limb-girdle muscular dystrophy R3 (LGMDR3), a rare genetic disorder characterized by progressive impairment of limb, diaphragmatic, and respiratory muscles, is caused by loss-of-function mutations in the α-sarcoglycan gene (SGCA) an…
View article: A comprehensive framework for the interpretation of TTN missense variants
A comprehensive framework for the interpretation of TTN missense variants Open
Background: Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin protein. While the …
View article: Functional Characterization of a Novel Intronic Variant in <scp><i>PIEZO2</i></scp> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (<scp>DAIPT</scp>)
Functional Characterization of a Novel Intronic Variant in <span><i>PIEZO2</i></span> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (<span>DAIPT</span>) Open
Background Distal arthrogryposis with impaired proprioception and touch (DAIPT) is a rare autosomal recessive neurological disease characterized by progressive alteration of mechanosensation. DAIPT is caused by loss of function variants in…
View article: Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability
Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability Open
This study investigates the differences in gut microbiota composition between DMD patients with (DMD +) and without (DMD −) intellectual disability (ID) and its potential role in cognitive outcomes. In this study, we assessed the gut micro…
View article: Case report: A single novel calpain 3 gene variant associated with mild myopathy
Case report: A single novel calpain 3 gene variant associated with mild myopathy Open
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A…
View article: Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy Open
Aim The availability of disease-modifying therapies and newborn screening programs for spinal muscular atrophy (SMA) has generated an urgent need for reliable prognostic biomarkers to classify patients according to disease severity. We aim…
View article: Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations
Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations Open
Caveolae constitute membrane microdomains where receptors and ion channels functionally interact. Caveolin-3 (cav-3) is the key structural component of muscular caveolae. Mutations in CAV3 lead to caveolinopathies, which result in both mus…
View article: DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia Open
View article: Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome
Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome Open
Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficiency. Biallelic variants in SELENON account for most…
View article: Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells Open
Duchenne muscular dystrophy (DMD) is a devastating X-linked muscular disease, caused by mutations in the DMD gene encoding Dystrophin and affecting 1:5000 boys worldwide. Lack of Dystrophin leads to progressive muscle wasting and degenerat…
View article: Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant Open
View article: Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies
Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies Open
View article: Skeletal muscle involvement in biallelic <i>SORD</i> mutations: case report and review of the literature.
Skeletal muscle involvement in biallelic <i>SORD</i> mutations: case report and review of the literature. Open
Biallelic mutations in the sorbitol dehydrogenase (SORD) gene have been identified as a genetic cause of autosomal recessive axonal Charcot-Marie-Tooth disease 2 (CMT2) and distal hereditary motor neuropathy (dHMN). We herein review…
View article: The <i>SPTLC1</i> p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
The <i>SPTLC1</i> p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment Open
Aims SPTLC1 ‐related disorder is a late onset sensory‐autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl‐CoA transferase (SPT) substrate, l ‐serine. Re…
View article: P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy
P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy Open
Limb-girdle muscular dystrophy R3, a rare genetic disorder affecting the limb proximal muscles, is caused by mutations in the α-sarcoglycan gene (Sgca) and aggravated by an immune-mediated damage, finely modulated by the extracellular (e)A…
View article: Congenital myopathy associated with a novel mutation in <i>MEGF10</i> gene, myofibrillar alteration and progressive course.
Congenital myopathy associated with a novel mutation in <i>MEGF10</i> gene, myofibrillar alteration and progressive course. Open
Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is caused by homozygous or compound heterozygous mutation in the MEGF10 gene (OMIM #614399). Phenotypic spectrum of EMARDD is variable, ranging from sever…
View article: The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome Open
The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis le…
View article: Comprehensive Phenotyping of Peripheral Blood T Lymphocytes in Healthy Mice
Comprehensive Phenotyping of Peripheral Blood T Lymphocytes in Healthy Mice Open
T lymphocytes play a central role in antigen‐specific immune responses. They modulate the function of different immune cells both through a direct contact (receptor binding) and through the secretion of cytokines. At the same time, they ar…
View article: eATP/P2X7R Axis: An Orchestrated Pathway Triggering Inflammasome Activation in Muscle Diseases
eATP/P2X7R Axis: An Orchestrated Pathway Triggering Inflammasome Activation in Muscle Diseases Open
In muscle ATP is primarily known for its function as an energy source and as a mediator of the “excitation-transcription” process, which guarantees muscle plasticity in response to environmental stimuli. When quickly released in massive co…
View article: Distal motor neuropathy associated with novel EMILIN1 mutation
Distal motor neuropathy associated with novel EMILIN1 mutation Open
View article: Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review Open
View article: Table of Contents
Table of Contents Open
View article: The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan–Deficient Muscular Dystrophy
The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan–Deficient Muscular Dystrophy Open
View article: Clinical and molecular consequences of exon 78 deletion in DMD gene
Clinical and molecular consequences of exon 78 deletion in DMD gene Open
View article: Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene
Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene Open
View article: The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy
The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy Open