Zobrazeno 1 - 10
of 1 190
pro vyhledávání: '"Centronuclear myopathy"'
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 321-334 (2023)
Dynamin 2 (DNM2) is a ubiquitously expressed GTPase regulating membrane trafficking and cytoskeleton dynamics. Heterozygous dominant mutations in DNM2 cause centronuclear myopathy (CNM), associated with muscle weakness and atrophy and histopathologic
Externí odkaz:
https://doaj.org/article/5f04a7b0f8894a26b0b3eb53cea42822
Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations
Autor:
Swati Dudhal, Lylia Mekzine, Bernard Prudhon, Karishma Soocheta, Bruno Cadot, Kamel Mamchaoui, Delphine Trochet, Marc Bitoun
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 733-748 (2022)
Dominant centronuclear myopathy (CNM) is a rare form of congenital myopathy associated with a wide clinical spectrum, from severe neonatal to milder adult forms. There is no available treatment for this disease due to heterozygous mutations in the DN
Externí odkaz:
https://doaj.org/article/8e9a6b63ea2842319af2c41521d31680
Autor:
Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René G. Feichtinger, Johannes A. Mayr, Martina Škopková, Daniela Gašperíková, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis, Denisa Weis
Publikováno v:
Genes, Vol 14, Iss 12, p 2174 (2023)
Background: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the MTM1 gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype
Externí odkaz:
https://doaj.org/article/38a5936ad93a48b8b8e97277fcd14f4b
Akademický článek
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Akademický článek
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Autor:
Suzie Buono, Arnaud Monseur, Alexia Menuet, Anne Robé, Catherine Koch, Jocelyn Laporte, Leen Thielemans, Marion Depla, Belinda S. Cowling
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 7 (2022)
Generating reliable preclinical data in animal models of disease is essential in therapy development. Here, we performed statistical analysis and joint longitudinal–survival modeling of the progressive phenotype observed in Mtm1−/y mice, a reliab
Externí odkaz:
https://doaj.org/article/31d927af739a4649a5fbdc494b74c155
Autor:
Polina Chausova, Aysylu Murtazina, Anna Stepanova, Artem Borovicov, Valeriia Kovalskaia, Nina Ryadninskaya, Alena Chukhrova, Oxana Ryzhkova, Aleksander Poliakov
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 8409 (2023)
X-linked centronuclear myopathy is caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a
Externí odkaz:
https://doaj.org/article/6f300a9416b04a09973064554f4bc8a2
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional p
Externí odkaz:
https://doaj.org/article/d80eb04ffcb045869d00338f959235a5
Autor:
Karla G. Espinosa, Salma Geissah, Linda Groom, Jonathan Volpatti, Ian C. Scott, Robert T. Dirksen, Mo Zhao, James J. Dowling
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 5 (2022)
Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation–contraction coupling (ECC). Bi-allelic autosomal-recessive mutations in striated muscle
Externí odkaz:
https://doaj.org/article/2237b4df52b6438680f7999d6964c747
Autor:
Aleksandra Dudzik, Weronika Nedza, Katarzyna Końska, Katarzyna Starzec, Tomasz Tomasik, Andrzej Grudzień, Mateusz Jagła, Wojciech Durlak, Przemko Kwinta
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-6 (2021)
Abstract Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient
Externí odkaz:
https://doaj.org/article/0ec68bee27854c02aad1d305ebf6cd6f