Publications by authors named "G Norato"

Human immunodeficiency virus type-1 (HIV-1) is responsible for significant mortality and morbidity worldwide. Despite complete control of viral replication with antiretrovirals, cells with integrated HIV-1 provirus can produce viral transcripts. In a cross-sectional study of 84 HIV+ individuals of whom 43 were followed longitudinally, we found that HIV-1 RNAs are present in extracellular vesicles (EVs) derived from cerebrospinal fluid and serum of all individuals.

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Background: Neurofilament proteins have been implicated to be altered in amyotrophic lateral sclerosis (ALS). The objectives of this study were to assess the diagnostic and prognostic utility of neurofilaments in ALS.

Methods: Studies were conducted in electronic databases (PubMed/MEDLINE, Embase, Web of Science, and Cochrane CENTRAL) from inception to 17 August 2023, and investigated neurofilament light (NfL) or phosphorylated neurofilament heavy chain (pNfH) in ALS.

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Progressive multifocal leukoencephalopathy is a rare but devastating demyelinating disease caused by the JC virus (JCV), for which no therapeutics are approved. To make progress towards addressing this unmet medical need, innovations in clinical trial design are needed. Quantitative JCV DNA in CSF has the potential to serve as a valuable biomarker of progressive multifocal leukoencephalopathy disease and treatment response in clinical trials to expedite therapeutic development, as do neuroimaging and other fluid biomarkers such as neurofilament light chain.

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Collagen VI-related disorders (-RDs) are a group of rare muscular dystrophies caused by pathogenic variants in collagen VI genes (, and ). Collagen type VI is a heterotrimeric, microfibrillar component of the muscle extracellular matrix (ECM), predominantly secreted by resident fibroadipogenic precursor cells in skeletal muscle. The absence or mislocalizatoion of collagen VI in the ECM underlies the non-cell autonomous dysfunction and dystrophic changes in skeletal muscle with an as of yet elusive direct mechanistic link between the ECM and myofiber dysfunction.

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Article Synopsis
  • Collagen VI-related dystrophies (COL6-RDs) include a range of conditions such as Ullrich congenital muscular dystrophy (UCMD), which features severe muscle weakness and respiratory issues, and Bethlem muscular dystrophy, which has milder and later-presenting symptoms.
  • Some patients with symptoms typical of COL6-RDs were previously undiagnosed until a deep intronic variant in COL6A1 was identified, leading to a severe form of UCMD in a cohort of 44 patients, except for one with a milder phenotype.
  • The study suggests that a new pseudoexon skipping therapy could effectively reduce the severity of UCMD symptoms by targeting the abnormal transcripts
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