Sofia Gargani
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View article: Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine
Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine Open
Lysosomal storage disorders (LSDs) represent a diverse group of inherited metabolic diseases in which impaired lysosomal function leads to progressive accumulation of undegraded substrates and widespread cellular dysfunction. Although trad…
View article: Secondary Sex Ratio in the Face of Global Challenges: Beyond the Headlines
Secondary Sex Ratio in the Face of Global Challenges: Beyond the Headlines Open
The secondary sex ratio (SSR), defined as the ratio of male to female live births in a population, is a crucial indicator of reproductive and public health. External factors, such as lifestyle, natural disasters, environmental chemicals an…
View article: Chromosomal Roadblocks in Male Fertility: Mechanisms, Risk Factors and Syndromes
Chromosomal Roadblocks in Male Fertility: Mechanisms, Risk Factors and Syndromes Open
Male infertility affects nearly 15% of couples worldwide, with chromosomal abnormalities representing a major underlying cause. This review explores how numerical and structural chromosomal anomalies, along with environmental exposures, li…
View article: Unveiling the Effects of Natural Disasters and Nuclear Energy on the Secondary Sex Ratio: A Comprehensive Review
Unveiling the Effects of Natural Disasters and Nuclear Energy on the Secondary Sex Ratio: A Comprehensive Review Open
The secondary sex ratio (SSR), defined as the ratio of male to female births in a population, has long been a subject of scientific inquiry due to its potential as a health indicator. The interplay between catastrophic events and the delic…
View article: Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence
Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence Open
Mitochondrial dysfunction is a key driver of neurological disorders due to the brain’s high energy demands and reliance on mitochondrial homeostasis. Despite advances in genetic characterization, the heterogeneity of mitochondrial diseases…
View article: Correlation of CLDN18.2 and Tumor Microenvironment in Gastric Cancer: A Systematic Review
Correlation of CLDN18.2 and Tumor Microenvironment in Gastric Cancer: A Systematic Review Open
Background/Objectives: Gastric cancer (GC) is the fifth leading cause of cancer-related mortality. CLDN18.2 is a tight junction protein, expressed in gastric mucosa and is considered as a novel therapeutic target. Even though CLDN18.2 is a…
View article: Genetic Basis of Motor Neuron Diseases: Insights, Clinical Management, and Future Directions
Genetic Basis of Motor Neuron Diseases: Insights, Clinical Management, and Future Directions Open
Motor neuron diseases (MNDs) are a heterogeneous group of neurodegenerative disorders characterized by the progressive loss of motor neurons, resulting in debilitating physical decline. Advances in genetics have revolutionized the understa…
View article: Innovations in MALDI-TOF Mass Spectrometry: Bridging modern diagnostics and historical insights
Innovations in MALDI-TOF Mass Spectrometry: Bridging modern diagnostics and historical insights Open
Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) is a robust analytical technology that has become integral to biomolecular research. Since its introduction into microbiology in the early 2000s, i…
View article: Genetic Identity of Neural Crest Cell Differentiation in Tissue and Organ Development
Genetic Identity of Neural Crest Cell Differentiation in Tissue and Organ Development Open
The neural crest (NC), also known as the “fourth germ layer”, is an embryonic structure with important contributions to multiple tissue and organ systems. Neural crest cells (NCCs) are subjected to epithelial to mesenchymal transition and …
View article: Endonucleosis mediates internalization of cytoplasm into the nucleus in senescent cells
Endonucleosis mediates internalization of cytoplasm into the nucleus in senescent cells Open
Cellular senescence is driven by diverse effector programs, leading to irreversible growth arrest, DNA damage and complex secretomes. Here we show that, in liver-specific Setd8-KO mice, after mitogen treatment, a significant number of hepa…
View article: Inactivation of AUF1 in Myeloid Cells Protects From Allergic Airway and Tumor Infiltration and Impairs the Adenosine-Induced Polarization of Pro-Angiogenic Macrophages
Inactivation of AUF1 in Myeloid Cells Protects From Allergic Airway and Tumor Infiltration and Impairs the Adenosine-Induced Polarization of Pro-Angiogenic Macrophages Open
The four isoforms of the RNA-binding protein hnRNPD/AUF1 have been proposed to limit the use of inflammatory mRNAs in innate immune cells. Mice engineered to lack AUF1s in all tissues are sensitive to acute inflammatory assaults; however, …
View article: The RNA binding protein human antigen R is a gatekeeper of liver homeostasis
The RNA binding protein human antigen R is a gatekeeper of liver homeostasis Open
Background and Aims NAFLD is initiated by steatosis and can progress through fibrosis and cirrhosis to HCC. The RNA binding protein human antigen R (HuR) controls RNAs at the posttranscriptional level; hepatocyte HuR has been implicated in…
View article: PIK3Cδ expression by fibroblasts promotes triple-negative breast cancer progression
PIK3Cδ expression by fibroblasts promotes triple-negative breast cancer progression Open
As there is growing evidence for the tumor microenvironment's role in tumorigenesis, we investigated the role of fibroblast-expressed kinases in triple-negative breast cancer (TNBC). Using a high-throughput kinome screen combined with 3D i…
View article: Global kinome silencing combined with 3D invasion screening of the tumor microenvironment identifies fibroblast-expressed PIK3Cδ involvement in triple-negative breast cancer progression
Global kinome silencing combined with 3D invasion screening of the tumor microenvironment identifies fibroblast-expressed PIK3Cδ involvement in triple-negative breast cancer progression Open
As there is growing evidence for the tumor microenvironment’s (TME) role in tumorigenesis, we sought to investigate the role of fibroblast-expressed kinases in triple negative breast cancer (TNBC). Using a high-throughput kinome screen com…