Carlo Rinaldi
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View article: Accurately modelling RNase H-mediated antisense oligonucleotide efficacy
Accurately modelling RNase H-mediated antisense oligonucleotide efficacy Open
Antisense oligonucleotides (ASOs) are a powerful class of drugs with the potential to treat a wide range of human diseases. However, the prediction of ASO efficacy remains challenging, as large-scale and costly experimental screens are typ…
View article: Tissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAs
Tissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAs Open
Nucleic acid nanostructures offer unique opportunities for biomedical applications due to their sequence-programmable structures and functions, which enable the design of complex responses to molecular cues. Control of the biological activ…
View article: Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy Open
We generated a comprehensive global SBMA dataset, enabling the identification of sensitive functional end points for clinical trials. Possible limitations relate to data collection nuances across sites that a single study protocol could ov…
View article: Tissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAs
Tissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAs Open
Nucleic acid nanostructures offer unique opportunities for biomedical applications due to their sequence-programmable structures and functions, which enable the design of complex responses to molecular cues. Control of the biological activ…
View article: Protein biomarker signature in patients with spinal and bulbar muscular atrophy
Protein biomarker signature in patients with spinal and bulbar muscular atrophy Open
Spinal and bulbar muscular atrophy (SBMA) is a slowly progressing disease with limited sensitive biomarkers that support clinical research. We analyzed plasma and serum samples from patients with SBMA and matched healthy controls in multip…
View article: 271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands Open
View article: <scp>PRMT</scp> inhibitor promotes <i>SMN2</i> exon 7 inclusion and synergizes with nusinersen to rescue <scp>SMA</scp> mice
<span>PRMT</span> inhibitor promotes <i>SMN2</i> exon 7 inclusion and synergizes with nusinersen to rescue <span>SMA</span> mice Open
View article: RNA Transcript Diversity in Neuromuscular Research
RNA Transcript Diversity in Neuromuscular Research Open
Three decades since the Human Genome Project began, scientists have now identified more then 25,000 protein coding genes in the human genome. The vast majority of the protein coding genes (> 90%) are multi-exonic, with the coding DNA being…
View article: LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice Open
View article: A modular RNA delivery system comprising spherical nucleic acids built on endosome-escaping polymeric nanoparticles
A modular RNA delivery system comprising spherical nucleic acids built on endosome-escaping polymeric nanoparticles Open
Polymeric spherical nucleic acids comprise pH-sensitive, polymer-conjugated oligonucleotides that self-assemble into nanoparticles with the ability to escape endosomes, overcoming a major obstacle in nucleic acid delivery.
View article: Type I PRMT inhibitor MS023 promotes <i>SMN2</i> exon 7 inclusion and synergizes with nusinersen to rescue the phenotype of SMA mice
Type I PRMT inhibitor MS023 promotes <i>SMN2</i> exon 7 inclusion and synergizes with nusinersen to rescue the phenotype of SMA mice Open
Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality. The advent of approved treatments for this devastating condition has significantly changed SMA patients’ life expectancy and quality of life. Nevertheless, the…
View article: Editorial Comment to Castration‐resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy
Editorial Comment to Castration‐resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy Open
Androgen receptor (AR) is the main mediator of androgen signaling. Androgens are sex steroid hormones released into the bloodstream in response to activation of the hypothalamic–pituitary-target endocrine gland axis. Free androgens enter t…
View article: AR cooperates with SMAD4 to maintain skeletal muscle homeostasis
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis Open
Androgens and androgen-related molecules exert a plethora of functions across different tissues, mainly through binding to the transcription factor androgen receptor (AR). Despite widespread therapeutic use and misuse of androgens as poten…
View article: AR cooperates with SMAD4 to maintain skeletal muscle homeostasis
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis Open
Androgens and androgen-related molecules exert a plethora of functions across different tissues, mainly through binding to the transcription factor Androgen Receptor (AR). Despite widespread therapeutic use and misuse of androgens as poten…
View article: Control of backbone chemistry and chirality boost oligonucleotide splice switching activity
Control of backbone chemistry and chirality boost oligonucleotide splice switching activity Open
Although recent regulatory approval of splice-switching oligonucleotides (SSOs) for the treatment of neuromuscular disease such as Duchenne muscular dystrophy has been an advance for the splice-switching field, current SSO chemistries have…
View article: Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy Open
The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex is widely distributed on the mem…
View article: Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity Open
AR isoform 2–encoded variant acts as a transcriptional modulator of AR genomic activity and is a target for therapy for SBMA.
View article: Dystrophin involvement in peripheral circadian SRF signalling
Dystrophin involvement in peripheral circadian SRF signalling Open
Absence of dystrophin, an essential sarcolemmal protein required for muscle contraction, leads to the devastating muscle-wasting disease Duchenne muscular dystrophy. Dystrophin has an actin-binding domain, which binds and stabilises filame…
View article: Dystrophin regulates peripheral circadian SRF signalling
Dystrophin regulates peripheral circadian SRF signalling Open
Dystrophin is a sarcolemmal protein essential for muscle contraction and maintenance, absence of which leads to the devastating muscle wasting disease Duchenne muscular dystrophy (DMD)[1, 2]. Dystrophin has an actin-binding domain [3–5], w…
View article: Biallelic and <i>de novo</i> variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Biallelic and <i>de novo</i> variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy Open
The vacuolar H + -ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex is widely distributed on the m…
View article: Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy
Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy Open
View article: Modelling Neuromuscular Diseases in the Age of Precision Medicine
Modelling Neuromuscular Diseases in the Age of Precision Medicine Open
Advances in knowledge resulting from the sequencing of the human genome, coupled with technological developments and a deeper understanding of disease mechanisms of pathogenesis are paving the way for a growing role of precision medicine i…
View article: Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism Open
Polyglutamine (polyQ) expansions in the androgen receptor (AR) gene cause spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease characterized by lower motor neuron (MN) loss and skeletal muscle atrophy, with an unknown mechani…
View article: MicroRNA-298 reduces levels of human amyloid-β precursor protein (APP), β-site APP-converting enzyme 1 (BACE1) and specific tau protein moieties
MicroRNA-298 reduces levels of human amyloid-β precursor protein (APP), β-site APP-converting enzyme 1 (BACE1) and specific tau protein moieties Open
Alzheimer’s disease (AD) is the most common age-related form of dementia, associated with deposition of intracellular neuronal tangles consisting primarily of hyperphosphorylated microtubule-associated protein tau (p-tau) and extracellular…
View article: Polyglutamine-expanded androgen receptor disrupts muscle triad, calcium dynamics and the excitation-contraction coupling gene expression program
Polyglutamine-expanded androgen receptor disrupts muscle triad, calcium dynamics and the excitation-contraction coupling gene expression program Open
Spinal and bulbar muscular atrophy (SBMA) is caused by polyglutamine (polyQ) expansions in the androgen receptor ( AR ) gene. Although clinical and experimental evidence highlight a primary role for skeletal muscle in the onset, progressio…
View article: Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy Open
While muscle damage and muscle mass biomarkers are abnormal in SBMA, axonal damage markers are unchanged, highlighting the relevant primary role of skeletal muscle in disease pathogenesis. Creatinine, but not CK, correlated with disease se…
View article: Plasma pNfH differentiate SBMA from ALS
Plasma pNfH differentiate SBMA from ALS Open
Background and aim: Spinal bulbar muscular atrophy (SBMA) is a progressive adult-onset X-linked neuromuscular disease. Although traditionally considered a motor neuron disorder, recent advances have highlighted a primary myopathic componen…
View article: Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents Open
RNA interference via the endogenous miRNA pathway regulates gene expression by controlling protein synthesis through post-transcriptional gene silencing. In recent years, miRNA-mediated gene regulation has shown potential for treatment of …
View article: Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease
Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease Open
Kennedy’s disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron dege…
View article: The Multiple Faces of Spinocerebellar Ataxia type 2
The Multiple Faces of Spinocerebellar Ataxia type 2 Open
Spinocerebellar ataxia type 2 ( SCA 2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian. The disease…