Cargando…

Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis

Collagen VI is a major extracellular matrix (ECM) protein with a critical role in maintaining skeletal muscle functional integrity. Mutations in COL6A1, COL6A2 and COL6A3 genes cause Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy, and Myosclerosis. Moreover, Col6a1(−/−) mice and coll...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sabatelli, Patrizia, Gualandi, Francesca, Gara, Sudheer Kumar, Grumati, Paolo, Zamparelli, Alessandra, Martoni, Elena, Pellegrini, Camilla, Merlini, Luciano, Ferlini, Alessandra, Bonaldo, Paolo, Maraldi, Nadir Mario, Paulsson, Mats, Squarzoni, Stefano, Wagener, Raimund
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2012
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315014/ https://www.ncbi.nlm.nih.gov/pubmed/22226732 http://dx.doi.org/10.1016/j.matbio.2011.12.003

Ejemplares similares

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies
por: Tagliavini, F., et al.
Publicado: (2014)

Melanocytes—A Novel Tool to Study Mitochondrial Dysfunction in Duchenne Muscular Dystrophy
por: Pellegrini, Camilla, et al.
Publicado: (2013)

Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results
por: Merlini, Luciano, et al.
Publicado: (2011)

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies
por: Bovolenta, Matteo, et al.
Publicado: (2010)

Critical Evaluation of the Use of Cell Cultures for Inclusion in Clinical Trials of Patients Affected by Collagen VI Myopathies
por: Sabatelli, P, et al.
Publicado: (2012)

Autophagy in Skeletal Muscle Homeostasis and in Muscular Dystrophies
por: Grumati, Paolo, et al.
Publicado: (2012)

Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial
por: Castagnaro, Silvia, et al.
Publicado: (2016)

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
por: Martoni, Elena, et al.
Publicado: (2013)

Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice
por: Bassi, Elena, et al.
Publicado: (2012)

Improving clinical trial design for Duchenne muscular dystrophy
por: Merlini, Luciano, et al.
Publicado: (2015)

Editorial: Muscle-Tendon-Innervation Unit: Degeneration and Aging—Pathophysiological and Regeneration Mechanisms
por: Merlini, Luciano, et al.
Publicado: (2016)

Ambra1 deficiency impairs mitophagy in skeletal muscle
por: Gambarotto, Lisa, et al.
Publicado: (2022)

Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors
por: Zulian, Alessandra, et al.
Publicado: (2014)

Aggresome–Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene
por: Sabatelli, Patrizia, et al.
Publicado: (2014)

Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice
por: Falzarano, Maria Sofia, et al.
Publicado: (2013)

Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers
por: Giglio, Vincenzo, et al.
Publicado: (2014)

Novel Approach to Meta-Analysis of Microarray Datasets Reveals Muscle Remodeling-related Drug Targets and Biomarkers in Duchenne Muscular Dystrophy
por: Kotelnikova, Ekaterina, et al.
Publicado: (2012)

Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions
por: Fortunato, Fernanda, et al.
Publicado: (2023)

Quadriceps muscle strength in Duchenne muscular dystrophy and effect of corticosteroid treatment
por: Merlini, Luciano, et al.
Publicado: (2020)

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients
por: Capitanio, Daniele, et al.
Publicado: (2020)

Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles
por: Alexeev, Vitali, et al.
Publicado: (2020)

Changes in Muscle Cell Metabolism and Mechanotransduction Are Associated with Myopathic Phenotype in a Mouse Model of Collagen VI Deficiency
por: De Palma, Sara, et al.
Publicado: (2013)

Heterogeneity of Collagen VI Microfibrils: STRUCTURAL ANALYSIS OF NON-COLLAGENOUS REGIONS
por: Maaß, Tobias, et al.
Publicado: (2016)

Duchenne Muscular Dystrophy: From Diagnosis to Therapy
por: Falzarano, Maria Sofia, et al.
Publicado: (2015)

Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy
por: Fortunato, Fernanda, et al.
Publicado: (2021)

mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies
por: Falzarano, Maria Sofia, et al.
Publicado: (2023)

Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy
por: Sardone, Francesca, et al.
Publicado: (2016)

Non-Coding RNAs in Muscle Dystrophies
por: Erriquez, Daniela, et al.
Publicado: (2013)

Zebrafish ambra1a and ambra1b Knockdown Impairs Skeletal Muscle Development
por: Skobo, Tatjana, et al.
Publicado: (2014)

Micromechanical function of myofibrils isolated from skeletal and cardiac muscles of the zebrafish
por: Iorga, Bogdan, et al.
Publicado: (2011)

Cellular and molecular mechanisms of muscle atrophy
por: Bonaldo, Paolo, et al.
Publicado: (2013)

Collagen VI regulates satellite cell self-renewal and muscle regeneration
por: Urciuolo, Anna, et al.
Publicado: (2013)

Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies
por: Sorato, E., et al.
Publicado: (2014)

Col6a1 Null Mice as a Model to Study Skin Phenotypes in Patients with Collagen VI Related Myopathies: Expression of Classical and Novel Collagen VI Variants during Wound Healing
por: Lettmann, Sandra, et al.
Publicado: (2014)

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy
por: Sabatelli, Patrizia, et al.
Publicado: (2022)

Extracellular Collagen VI Has Prosurvival and Autophagy Instructive Properties in Mouse Fibroblasts
por: Castagnaro, Silvia, et al.
Publicado: (2018)

New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients
por: Merlini, Luciano, et al.
Publicado: (2023)

Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice
por: Spitali, Pietro, et al.
Publicado: (2013)

Editorial: Pathophysiological Mechanisms of Sarcopenia in Aging and in Muscular Dystrophy: A Translational Approach
por: Merlini, Luciano, et al.
Publicado: (2015)

The Popeye Domain Containing Genes and Their Function in Striated Muscle
por: Schindler, Roland F. R., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_k18rpdhtoqe0cnjt30q4hs8qnf