P. Rusmini
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View article: Impairment of lysosomal quality control in Huntington disease
Impairment of lysosomal quality control in Huntington disease Open
Huntington disease (HD) is a neurodegenerative disease caused by a polyglutamine expansion (polyQ) in the Huntingtin protein (muHTT), which makes it prone to misfolding and aggregation. muHTT aggregates sequester a wide variety of proteins…
View article: Luminescent Iridium-Peptide Nucleic Acid Bioconjugate as Photosensitizer for Singlet Oxygen Production toward a Potential Dual Therapeutic Agent
Luminescent Iridium-Peptide Nucleic Acid Bioconjugate as Photosensitizer for Singlet Oxygen Production toward a Potential Dual Therapeutic Agent Open
A novel bioorganometallic PNA conjugate (Ir-PNA) was synthesized by covalently bonding a model PNA tetramer to a luminescent bis-cyclometalated Ir(III) complex that acted as a photosensitizer under light irradiation to generate singlet oxy…
View article: Small heat shock protein B8: from cell functions to its involvement in diseases and potential therapeutic applications
Small heat shock protein B8: from cell functions to its involvement in diseases and potential therapeutic applications Open
Heat shock protein family B (small) member 8 (HSPB8) is a 22 kDa ubiquitously expressed protein belonging to the family of small heat shock proteins. HSPB8 is involved in various cellular mechanisms mainly related to proteotoxic stress res…
View article: Neratinib is a TFEB and TFE3 activator that potentiates autophagy and unbalances energy metabolism in ERBB2+ breast cancer cells
Neratinib is a TFEB and TFE3 activator that potentiates autophagy and unbalances energy metabolism in ERBB2+ breast cancer cells Open
Neratinib (NE) is an irreversible pan-ERBB tyrosine kinase inhibitor used to treat breast cancers (BCa) with amplification of the ERBB2/HER2/Neu gene or overexpression of the ERBB2 receptor. However, the mechanisms behind this process are …
View article: HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies Open
Chaperone-assisted selective autophagy (CASA) is a highly selective pathway for the disposal of misfolding and aggregating proteins. In muscle, CASA assures muscle integrity by favoring the turnover of structural components damaged by mech…
View article: Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice
Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice Open
Spinal and bulbar muscular atrophy (SBMA) is characterized by motor neuron (MN) degeneration that leads to slowly progressive muscle weakness. It is considered a neuromuscular disease since muscle has a primary role in disease onset and pr…
View article: Identification of HSPB8 modulators counteracting misfolded protein accumulation in neurodegenerative diseases
Identification of HSPB8 modulators counteracting misfolded protein accumulation in neurodegenerative diseases Open
These compounds may be highly relevant for a therapeutic approach in several human disorders, including neurodegenerative diseases, in which enhancement of CASA exerts beneficial activities.
View article: The Role of Small Heat Shock Proteins in Protein Misfolding Associated Motoneuron Diseases
The Role of Small Heat Shock Proteins in Protein Misfolding Associated Motoneuron Diseases Open
Motoneuron diseases (MNDs) are neurodegenerative conditions associated with death of upper and/or lower motoneurons (MNs). Proteostasis alteration is a pathogenic mechanism involved in many MNDs and is due to the excessive presence of misf…
View article: The role of autophagy-lysosomal pathway in motor neuron diseases
The role of autophagy-lysosomal pathway in motor neuron diseases Open
Motor neuron diseases (MNDs) include a broad group of diseases in which neurodegeneration mainly affects upper and/or lower motor neurons (MNs). Although the involvement of specific MNs, symptoms, age of onset, and progression differ in MN…
View article: Pathogenic variants of Valosin‐containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells
Pathogenic variants of Valosin‐containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells Open
Aim Mutations in the valosin‐containing protein ( VCP ) gene cause various lethal proteinopathies that mainly include inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) and amyotrophic lateral scleros…
View article: Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases
Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases Open
The family of the human small Heat Shock Proteins (HSPBs) consists of ten members of chaperones (HSPB1-HSPB10), characterized by a low molecular weight and capable of dimerization and oligomerization forming large homo- or hetero-complexes…
View article: Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy
Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy Open
Valosin containing protein (VCP) has emerged as a central protein in the regulation of the protein quality control (PQC) system. VCP mutations are causative of multisystem proteinopathies, which include neurodegenerative diseases (NDs), an…
View article: Neurodegenerative Disease-Associated TDP-43 Fragments Are Extracellularly Secreted with CASA Complex Proteins
Neurodegenerative Disease-Associated TDP-43 Fragments Are Extracellularly Secreted with CASA Complex Proteins Open
Extracellular vesicles (EVs) play a central role in neurodegenerative diseases (NDs) since they may either spread the pathology or contribute to the intracellular protein quality control (PQC) system for the cellular clearance of NDs-assoc…
View article: Retinoic Acid Downregulates HSPB8 Gene Expression in Human Breast Cancer Cells MCF-7
Retinoic Acid Downregulates HSPB8 Gene Expression in Human Breast Cancer Cells MCF-7 Open
Breast cancer (BC) is a serious and widespread disease for which different treatments have been developed. In addition to the classic therapies, the treatment with retinoic acid (RA) is still being clinically investigated. RA reduces cance…
View article: A Crucial Role for the Protein Quality Control System in Motor Neuron Diseases
A Crucial Role for the Protein Quality Control System in Motor Neuron Diseases Open
Motor neuron diseases (MNDs) are fatal diseases characterized by loss of motor neurons in the brain cortex, in the bulbar region, and/or in the anterior horns of the spinal cord. While generally sporadic, inherited forms linked to mutant g…
View article: Multiple Roles of Transforming Growth Factor Beta in Amyotrophic Lateral Sclerosis
Multiple Roles of Transforming Growth Factor Beta in Amyotrophic Lateral Sclerosis Open
Transforming growth factor beta (TGFB) is a pleiotropic cytokine known to be dysregulated in many neurodegenerative disorders and particularly in amyotrophic lateral sclerosis (ALS). This motor neuronal disease is non-cell autonomous, as i…
View article: Enhanced Clearance of Neurotoxic Misfolded Proteins by the Natural Compound Berberine and Its Derivatives
Enhanced Clearance of Neurotoxic Misfolded Proteins by the Natural Compound Berberine and Its Derivatives Open
Background: Accumulation of misfolded proteins is a common hallmark of several neurodegenerative disorders (NDs) which results from a failure or an impairment of the protein quality control (PQC) system. The PQC system is composed by chape…
View article: The Role of Sex and Sex Hormones in Neurodegenerative Diseases
The Role of Sex and Sex Hormones in Neurodegenerative Diseases Open
Neurodegenerative diseases (NDs) are a wide class of disorders of the central nervous system (CNS) with unknown etiology. Several factors were hypothesized to be involved in the pathogenesis of these diseases, including genetic and environ…
View article: Autophagic and Proteasomal Mediated Removal of Mutant Androgen Receptor in Muscle Models of Spinal and Bulbar Muscular Atrophy
Autophagic and Proteasomal Mediated Removal of Mutant Androgen Receptor in Muscle Models of Spinal and Bulbar Muscular Atrophy Open
Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease (MND) caused by a mutant androgen receptor (AR) containing an elongated polyglutamine (polyQ) tract. ARpolyQ toxicity is triggered by androgenic AR ligands, which …