Francesco Muntoni A

PDGFRα-directed fibroblast-homing peptides for targeted delivery of nucleic acid therapeutics

The paper identifies fibroblast-homing peptides targeting PDGFR for targeted delivery of nucleic acid therapeutics, showing enhanced efficacy in a collagen VI-related muscular dystrophy model.

Matrix remodeling plays an etiological role in driving laminin-α2 deficient pathology

The paper investigates fibrogenic pathways in LAMA2-related congenital muscular dystrophy, showing early ECM remodeling and myofibroblast transdifferentiation in both mouse models and human patients.

Neuronal targeted AAV Micro-Dystrophin restores neurobehavioural co-morbidities, grip strength and motor coordination in mdx52 mouse model of Duchenne Muscular Dystrophy

This study evaluates neuronal-targeted AAV micro-dystrophin therapy in mdx52 mice, showing IV delivery improves neurobehavioural, motor, and neuromuscular deficits more effectively than ICV delivery.

Increased utrophin expression in healthy and DMD patient derived myoblasts in response to ERK1/2 and EZH2 inhibitor treatment

The paper shows that ERK1/2 and EZH2 inhibitors increase utrophin expression in myoblasts from healthy and DMD patients, with sustained effects in patient-derived cells.

A scalable and equitable framework for target and patient prioritisation in rare disease antisense therapeutics

The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.

A comprehensive framework for the interpretation of TTN missense variants

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients

The paper identifies novel molecular pathways and biomarkers in LAMA2-RD patients by comparing transcriptomic profiles of those with complete versus partial laminin-211 deficiency.

A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain

This paper maps dystrophin isoform expression across human brain development and adulthood, revealing novel expression patterns in neurons and synapses.

Contaminating manufacturing plasmids and disrupted vector genomes present in liver tissue following adeno-associated virus gene therapy

The paper identifies manufacturing plasmid sequences and disrupted vector genomes in liver tissue from a patient with AAV gene therapy-related hepatitis.

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

Fully Personalised Degenerative Disease Modelling - A Duchenne Muscular Dystrophy Case Study

The paper presents a framework for predicting individual patient trajectories in degenerative diseases using mixed data from the patient and a database, showing promising results in Duchenne Muscular Dystrophy.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

Detection of pathogenic splicing events from RNA-sequencing data using dasper

This paper introduces dasper, an R/Bioconductor package that detects pathogenic splicing events from RNA-sequencing data with higher accuracy than existing methods.

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

This study shows that loss of BICD2 in muscle drives motor neuron loss in SMALED2 through a non-cell autonomous mechanism involving impaired secretory pathways.

A Multistage Sequencing Strategy Pinpoints Many Novel and Candidate Disease Alleles for Orphan Disease Emery-Dreifuss Muscular Dystrophy and Supports Gene Misregulation as its Pathomechanism

Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development

This study shows that THRA mutations impair neural progenitor cell proliferation and organisation in human cortical development using patient-derived iPSCs.

Targeted gene correction of FKRP by CRISPR/Cas9 restores functional glycosylation of α-dystroglycan in cortical neurons derived from human induced pluripotent stem cells

This paper corrects FKRP mutations in iPSCs using CRISPR/Cas9, restoring functional glycosylation of α-dystroglycan in cortical neurons and validating the role of FKRP in dystroglycanopathies.

In vivo translatome profiling reveals early defects in ribosome biology underlying SMA pathogenesis

The paper identifies early translational defects in SMA mice, showing reduced translational efficiency and ribosome numbers in motor neurons, which are rescued by SMN restoration.

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.