Cargando…

Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy

Collagen VI (COLVI) is a non-fibrillar collagen expressed in skeletal muscle and most connective tissues. Mutations in COLVI genes cause two major clinical forms, Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). In addition to congenital muscle weakness, patients affected by COLVI...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sardone, Francesca, Traina, Francesco, Bondi, Alice, Merlini, Luciano, Santi, Spartaco, Maraldi, Nadir Mario, Faldini, Cesare, Sabatelli, Patrizia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2016
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896961/ https://www.ncbi.nlm.nih.gov/pubmed/27375477 http://dx.doi.org/10.3389/fnagi.2016.00131

Ejemplares similares

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)

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

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

Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy
por: Miscione, Maria Teresa, et al.
Publicado: (2013)

Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations
por: Antoniel, Manuela, et al.
Publicado: (2020)

Nutritional Status Evaluation in Patients Affected by Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy
por: Toni, Silvia, et al.
Publicado: (2014)

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations
por: BOZORGMEHR, Bita, et al.
Publicado: (2013)

Corticosteroid Treatment Impact on Spinal Deformity in Duchenne Muscular Dystrophy
por: Sanzarello, Ilaria, et al.
Publicado: (2014)

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

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
por: Shimomura, Hideki, et al.
Publicado: (2019)

Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report
por: Hu, Jun, et al.
Publicado: (2022)

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)

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

Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Muscular Dystrophy
por: Liu, Chuncheng, et al.
Publicado: (2019)

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators
por: Paco, Sonia, et al.
Publicado: (2015)

The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax
por: Navas Nazario, Aledie, et al.
Publicado: (2022)

Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice
por: Takenaka-Ninagawa, Nana, et al.
Publicado: (2021)

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)

Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
por: Park, Yoonhong, et al.
Publicado: (2014)

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts
por: Noguchi, Satoru, et al.
Publicado: (2014)

Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis
por: Sabatelli, Patrizia, et al.
Publicado: (2012)

Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich‐like congenital muscular dystrophy
por: Jankelunas, Leanne, et al.
Publicado: (2023)

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

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
por: Merlini, Luciano, et al.
Publicado: (2019)

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
por: Sirisena, Nirmala Dushyanthi, et al.
Publicado: (2021)

Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report
por: Picillo, Esther, et al.
Publicado: (2022)

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

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

Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy
por: Marrosu, Elena, et al.
Publicado: (2017)

Sarcopenia and Sarcopenic Obesity in Patients with Muscular Dystrophy
por: Merlini, Luciano, et al.
Publicado: (2014)

Collagen VI in the Musculoskeletal System
por: Di Martino, Alberto, et al.
Publicado: (2023)

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

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)

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy
por: Bolduc, Véronique, et al.
Publicado: (2014)

Fukuyama Congenital Muscular Dystrophy
por: Agarwal, Amit, et al.
Publicado: (2022)

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

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

Diagnostic approach to the congenital muscular dystrophies
por: Bönnemann, Carsten G., et al.
Publicado: (2014)

Congenital Muscular Dystrophies: A Brief Review
por: Bertini, Enrico, et al.
Publicado: (2011)

Congenital muscular dystrophy with inflammation: Diagnostic considerations
por: Konkay, Kaumudi, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_t5e2isifvma4ufm7jrrqb31uf5