Results 1 to 10 of about 2,843 (169)

Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy [PDF]

Nature Communications, 2022
Dynamin 2 is a large GTPase linked to several human diseases. Here, Gómez-Oca et al. investigate the functions of muscle dynamin 2 isoforms and provide insights into their differential implication in centronuclear myopathy pathogenesis and treatment.
Raquel Gómez-Oca, Evelina Edelweiss, Sarah Djeddi, Mathias Gerbier, Xènia Massana-Muñoz, Mustapha Oulad-Abdelghani, Corinne Crucifix, Coralie Spiegelhalter, Nadia Messaddeq, Pierre Poussin-Courmontagne, Pascale Koebel, Belinda S. Cowling, Jocelyn Laporte   +12 more
doaj   +2 more sources

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. [PDF]

PLoS Genetics, 2013
Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S Cowling, G Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte   +12 more
doaj   +10 more sources

Centronuclear (myotubular) myopathy [PDF]

Orphanet Journal of Rare Diseases, 2008
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
Wallgren-Pettersson Carina, Jungbluth Heinz, Laporte Jocelyn   +2 more
doaj   +3 more sources

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review [PDF]

BMC Pediatrics, 2021
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 patients have ...
Gang Zhang, Min Xu, Tingting Huang, Wenxin Lin, Jinglin Chen, Wangyang Chen, Xingzhi Chang   +6 more
doaj   +2 more sources

A Possible Case of Centronuclear Myopathy: A Case Report [PDF]

Medicina, 2023
Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or
Narjara Castillo-Ferrán, Juan Mario Junco-Rodriguez, Zurina Lestayo-O’Farrill, María de los Angeles Robinson-Agramonte, Zoilo Camejo-León, Héctor Jesús Gómez-Suárez, Mercedes Salinas-Olivares, Evelyn Antiguas-Valdez, Elizabeth Falcón-Lamazares, Dario Siniscalco   +9 more
doaj   +2 more sources

Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy [PDF]

eLife
Truncation of the protein-protein interaction SH3 domain of the membrane remodeling Bridging Integrator 1 (BIN1, Amphiphysin 2) protein leads to centronuclear myopathy.
Boglarka Zambo, Evelina Edelweiss, Bastien Morlet, Luc Negroni, Matyas Pajkos, Zsuzsanna Dosztanyi, Soren Ostergaard, Gilles Trave, Jocelyn Laporte, Gergo Gogl   +9 more
doaj   +2 more sources

Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy [PDF]

Disease Models & Mechanisms, 2022
Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation–contraction coupling (ECC).
Karla G. Espinosa, Salma Geissah, Linda Groom, Jonathan Volpatti, Ian C. Scott, Robert T. Dirksen, Mo Zhao, James J. Dowling   +7 more
doaj   +2 more sources

DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy [PDF]

Molecular Therapy: Nucleic Acids, 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 histopathological ...
Juliana de Carvalho Neves, Foteini Moschovaki-Filippidou, Johann Böhm, Jocelyn Laporte   +3 more
doaj   +2 more sources

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy [PDF]

EMBO Molecular Medicine, 2017
Rapid advances in allele‐specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles.
Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, Laura Julien, Sofia Benkhelifa‐Ziyyat, Aymen Rabai, Kamel Mamchaoui, Arnaud Ferry, Jocelyn Laporte, Pascale Guicheney, Stéphane Vassilopoulos, Marc Bitoun   +13 more
doaj   +2 more sources

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin [PDF]

JCI Insight, 2020
Classical dynamins are large GTPases regulating membrane and cytoskeleton dynamics, and they are linked to different pathological conditions ranging from neuromuscular diseases to encephalopathy and cancer.
Xènia Massana Muñoz, Christine Kretz, Roberto Silva-Rojas, Julien Ochala, Alexia Menuet, Norma B. Romero, Belinda S. Cowling, Jocelyn Laporte   +7 more
doaj   +2 more sources