Maud Chapart

Longitudinal multi-omics profiling of spinal muscular atrophy

Ivana Dabaj, Thị Hoàng Trang Nguyễn, Emmanuelle Lagrue, Franklin Ducatez et autres

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by SMN1 gene variants, leading to the degeneration of anterior horn cells in the spinal cord. It is a disabling disease with varying severity. Nusinersen, the first approved in France, has …

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Differential regulation of proteolytic pathways in the diaphragm during mechanical ventilation

Aurélie Campeanu, Myriam Lamamri, J. M. Loeb, Jean-Michel Constantin et autres

fr (code pays fourni par la source)

Spatial and Multiomic profiling of muscle regeneration dynamics in Duchenne Muscular Dystrophy

Laura Virtanen, Chiara D’Ercole, Lucile Saillard, Fiorella Carla Grandi et autres

Summary Duchenne muscular dystrophy (DMD) is a pediatric degenerative myopathy caused by the absence of functional dystrophin. As a result, DMD muscles exhibit compromised myofiber integrity and increased susceptibility to mechanical damage. In early disease stages, muscles undergo repeated cycles of degeneration …

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577PMultisystemic factors from muscle and liver affect bone health in spinal muscular atrophy type II patients and a mouse model

Fiorella Carla Grandi, Sonia Pezet, A. Arnould, Sonia Mazzucchi et autres

fr (code pays fourni par la source)

Systemic Factors Affect Bone Health in SMA Type II Patients and a Mouse Model of SMA

Fiorella Carla Grandi, Sonia Pezet, A. Arnould, Sabrina Mazzucchi et autres

ABSTRACT Spinal muscular atrophy (SMA) is a rare developmental disorder affecting multiple tissues. Among the non-central nervous system tissues implicated in SMA is the skeletal system, including bone and cartilage. Low bone mineral density, increased numbers of fractures of the long bones …

fr, br (code pays fourni par la source)

178P Spinal muscular atrophy type II skeletal muscle treated with Nusinersen and Risdiplam shows SMN restoration but mitochondrial deficiency

Fiorella Carla Grandi, Stéphanie Astord, Sonia Pezet, Elèna Gidaja et autres

Characterization of SMA type II skeletal muscle from treated patients shows OXPHOS deficiency and denervation

Fiorella Carla Grandi, Stéphanie Astord, Sonia Pezet, Elèna Gidaja et autres

Spinal muscular atrophy (SMA) is a recessive developmental disorder caused by the genetic loss or mutation of the gene SMN1 (survival of motor neuron 1). SMA is characterized by neuromuscular symptoms and muscle weakness. Several years ago, SMA treatment underwent a radical …

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Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis

Delphine Sapaly, Flore Cheguillaume, Laure Weill, Zoé Clerc et autres

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons, with a typical lifespan of 3-5 years. Altered metabolism is a key feature of ALS that strongly influences prognosis, with an increase in whole body energy expenditure and changes in …

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Myopilot, a project to compare the regenerative efficacy of several categories of myogenic progenitors in vivo. Clinical myology Cell therapies

Manon Beaujean, Amélie Briant, Nathalie Daniele, Daniel Stockholm et autres

International audience

SMA Type II Skeletal Muscle Treated with Nusinersen shows SMN Restoration but Mitochondrial Deficiency.

Fiorella Carla Grandi, Stéphanie Astord, Elèna Gidaja, Sonia Pezet et autres

Spinal muscular atrophy (SMA) is a rare autosomal recessive developmental disorder caused by the genetic loss or mutation of the gene SMN1 (Survival of Spinal Motor Neuron 1). SMA is classically characterized by neuromuscular symptoms, including muscular atrophy, weakness of the proximal …

fr (code pays fourni par la source)

Transduction Efficiency of Adeno-Associated Virus Serotypes After Local Injection in Mouse and Human Skeletal Muscle

Laura Muraine, Mona Bensalah, Jamila Dhiab, Gonzalo Córdova et autres

The adeno-associated virus (AAV) vector is an efficient tool for gene delivery in skeletal muscle. AAV-based therapies show promising results for treatment of various genetic disorders, including muscular dystrophy. These dystrophies represent a heterogeneous group of diseases affecting muscles and typically characterized …

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Characterization of aldehyde dehydrogenase isoenzymes in Man, Macaque and Dog skeletal muscles

Jessy Etienne, Pierre Joanne, Alexandra Bayer, Cyril Catelain et autres

International audience

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