Gianna Berti
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View article: Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility Open
Malignant Hyperthermia Susceptibility (MHS) is a pharmacogenetic disorder triggered by volatile anesthetics and muscle relaxants, leading to a hypermetabolic reaction in skeletal muscle that can be fatal if untreated. Diagnosis relies on a…
View article: The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases
The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases Open
Background: The TWNK gene encodes a protein that colocalizes with mitochondrial DNA (mtDNA) in mitochondrial nucleoids. It acts as mtDNA helicase during replication, thus playing a pivotal role in the replication and maintenance of mtDNA s…
View article: G-Protein-Coupled Estrogen Receptor (GPER) in Inflammatory Myopathies
G-Protein-Coupled Estrogen Receptor (GPER) in Inflammatory Myopathies Open
Background/Objectives: Given the multifaceted role of estrogen hormones in skeletal muscle pathophysiology and their well-established immunomodulatory properties, this study aimed to characterize the expression of the G-protein-coupled est…
View article: CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy Open
CCDC78 was identified as a novel candidate gene for autosomal dominant centronuclear myopathy-4 (CNM4) approximately ten years ago. However, to date, only one family has been described, and the function of CCDC78 remains unclear. Here, we …
View article: Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD) Open
Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK level…
View article: CCDC78: unveiling the function of a novel gene associated to hereditary myopathy
CCDC78: unveiling the function of a novel gene associated to hereditary myopathy Open
CCDC78 was indicated about ten years ago as novel candidate gene for the autosomal dominant centronuclear myopathy-4 (CNM4). However, to date, only one family has been described and CCDC78 function remains unclear. Here we deeply analyze f…
View article: Identification and characterization of three novel mutations in the<i>CASQ1</i>gene in four patients with tubular aggregate myopathy
Identification and characterization of three novel mutations in the<i>CASQ1</i>gene in four patients with tubular aggregate myopathy Open
Here, we report the identification of three novel missense mutations in the calsequestrin-1 (CASQ1) gene in four patients with tubular aggregate myopathy. These CASQ1 mutations affect conserved amino acids in position 44 (p.(Asp44Asn)), 10…