Výsledky vyhledávání - "Astrid Brull"

Akademický článek

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Publikováno v: Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)

Abstract Objective ACTN2, encoding alpha‐actinin‐2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic

Externí odkaz: https://doaj.org/article/fb0a803a096f45d484f086ba7b3ad84b

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Akademický článek

Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

Autor: Astrid Brull, Apurva Sarathy, Véronique Bolduc, Grace S. Chen, Riley M. McCarty, Carsten G. Bönnemann

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102178- (2024)

Collagen VI-related dystrophies (COL6-RDs) are a group of severe, congenital-onset muscular dystrophies for which there is no effective causative treatment. Dominant-negative mutations are common in COL6A1, COL6A2, and COL6A3 genes, encoding the coll

Externí odkaz: https://doaj.org/article/4ea204394e074f7ea3479995a862c758

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Akademický článek

Absence of p.R50X Pygm read-through in McArdle disease cellular models

Autor: Guillermo Tarrasó, Alberto Real-Martinez, Marta Parés, Lídia Romero-Cortadellas, Laura Puigros, Laura Moya, Noemí de Luna, Astrid Brull, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, Antoni L. Andreu, Jordi Barquinero, John Vissing, Thomas O. Krag, Tomàs Pinós

Publikováno v: Disease Models & Mechanisms, Vol 13, Iss 1 (2020)

McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We used three different cellular models to evaluate the efficiency of different read-through

Externí odkaz: https://doaj.org/article/f397524be8474485b1b42dbed725eb26

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Akademický článek

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy

Autor: Feriel Azibani, Astrid Brull, Ludovic Arandel, Maud Beuvin, Isabelle Nelson, Arnaud Jollet, Esma Ziat, Bernard Prudhon, Sofia Benkhelifa-Ziyyat, Marc Bitoun, Stéphanie Lorain, Gisèle Bonne, Anne T. Bertrand

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 10, Iss , Pp 376-386 (2018)

We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy. This gene therapy strategy leads to reduction of mutated transcript expression for the

Externí odkaz: https://doaj.org/article/2bc39faefe1040038e4222aaa680707a

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Akademický článek

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy

Autor: Anne T. Bertrand, Astrid Brull, Feriel Azibani, Louise Benarroch, Khadija Chikhaoui, Colin L. Stewart, Ohad Medalia, Rabah Ben Yaou, Gisèle Bonne

Publikováno v: Cells, Vol 9, Iss 4, p 844 (2020)

LMNA encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form the nuclear lamina. A small fraction of Lamin A/C, less polymerized, is also found in the nucleoplasm. Lamin A/C functions include role

Externí odkaz: https://doaj.org/article/097506a7f14b45929ed09aaf7d16047b

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Akademický článek

The Pathogenesis and Therapies of Striated Muscle Laminopathies

Autor: Astrid Brull, Blanca Morales Rodriguez, Gisèle Bonne, Antoine Muchir, Anne T. Bertrand

Publikováno v: Frontiers in Physiology, Vol 9 (2018)

Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized by early contractures, skeletal muscle weakness, and cardiomyopathy. During the last 20 years, various genetic approaches led to the identification of causal genes of EDMD

Externí odkaz: https://doaj.org/article/0594c51d73ac4efd89957f0be3ebf17c

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Akademický článek

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro

Autor: Noemí de Luna, Astrid Brull, Josep Maria Guiu, Alejandro Lucia, Miguel Angel Martin, Joaquin Arenas, Ramon Martí, Antoni L. Andreu, Tomàs Pinós

Publikováno v: Disease Models & Mechanisms, Vol 8, Iss 5, Pp 467-472 (2015)

McArdle disease, also termed ‘glycogen storage disease type V’, is a disorder of skeletal muscle carbohydrate metabolism caused by inherited deficiency of the muscle-specific isoform of glycogen phosphorylase (GP-MM). It is an autosomic recessive

Externí odkaz: https://doaj.org/article/25556bc966214bc1b4172e67ed73f5e2

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Gene therapy for striated muscle laminopathy

Autor: Mariko Okubo, Astrid Brull, Isabelle Nelson, Maud Beuvin, Laura Julien, Valérie Paradis, Bertrand, Anne T., Gisèle Bonne

Publikováno v: 12th French-Japanese Workshop on Neuromuscular Diseases
12th French-Japanese Workshop on Neuromuscular Diseases, Gisèle Bonne; Ichizo Nishino, Sep 2022, Giverny, France
HAL

International audience; LMNA-related Congenital Muscular Dystrophy (L-CMD) is the most severe form of striated muscle laminopathies caused by mutations in LMNA. Our purpose is to development gene therapy for L-CMD to correct LMNA mutations at mRNA le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8589fc0248e88c8795dbc20569d7ec71
https://hal.science/hal-03989233

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Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease

Autor: Kristen J. Nowak, Elyshia McNamara, Joshua S. Clayton, Kimberley L. Dilworth, Gianina Ravenscroft, Tomàs Pinós, Ian E. Alexander, Nigel G. Laing, Astrid Brull, Leszek Lisowski, Rhonda L. Taylor, Hayley Goullee

Publikováno v: Human Molecular Genetics. 29:20-30

McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle cramps and skeletal muscle damage leading to transient myoglobinuria and increased risk of kidney failure. McArdle disease is caused by recessive mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd1e0cbc83709b1b3436fffc4775b8fc
https://doi.org/10.1093/hmg/ddz214

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Autor: Gillian Butler-Browne, Julien Messéant, Norma B. Romero, Emmanuelle Lacène, Sophie Moog, Catherine Coirault, Arnaud Ferry, Gisèle Bonne, Astrid Brull, Kamel Mamchaoui, Daniel J. Owens, Mark Viggars

BackgroundLaminopathies are a clinically heterogeneous group of disorders caused by mutations in the LMNA gene, which encodes the nuclear envelope proteins lamins A and C. The most frequent diseases associated with LMNA mutations are characterized by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::67f645ce85933f68a081a83c02116287
https://doi.org/10.1101/2020.08.06.239210

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