Cargando…

Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations

Mutations in collagen VI genes cause two major clinical myopathies, Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), and the rarer myosclerosis myopathy. In addition to congenital muscle weakness, patients affected by collagen VI-related myopathies show axial and proximal join...

Descripción completa

Detalles Bibliográficos
Autores principales:	Antoniel, Manuela, Traina, Francesco, Merlini, Luciano, Andrenacci, Davide, Tigani, Domenico, Santi, Spartaco, Cenni, Vittoria, Sabatelli, Patrizia, Faldini, Cesare, Squarzoni, Stefano
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072441/ https://www.ncbi.nlm.nih.gov/pubmed/32053901 http://dx.doi.org/10.3390/cells9020409

Ejemplares similares

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

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

Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy
por: Sabatelli, Patrizia, 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)

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

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

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)

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)

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)

Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
por: Starace, Michela, et al.
Publicado: (2023)

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

PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation
por: Santi, Spartaco, et al.
Publicado: (2020)

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

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

Interleukin‐6 neutralization ameliorates symptoms in prematurely aged mice
por: Squarzoni, Stefano, et al.
Publicado: (2021)

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)

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)

Coordinate roles for collagen VI and biglycan in regulating tendon collagen fibril structure and function
por: Leiphart, Ryan J., et al.
Publicado: (2021)

Emerin Phosphorylation during the Early Phase of the Oxidative Stress Response Influences Emerin–BAF Interaction and BAF Nuclear Localization
por: Cenni, Vittoria, et al.
Publicado: (2020)

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

Diverse lamin-dependent mechanisms interact to control chromatin dynamics: Focus on laminopathies
por: Camozzi, Daria, et al.
Publicado: (2014)

Authentication of collagen VI antibodies
por: Endicott, Jamie, et al.
Publicado: (2017)

Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies
por: Guadagnin, Eleonora, et al.
Publicado: (2021)

Current Concepts in the Biopsy of Musculoskeletal Tumors
por: Errani, Costantino, et al.
Publicado: (2013)

Fracture of Ceramic Bearing Surfaces following Total Hip Replacement: A Systematic Review
por: Traina, Francesco, et al.
Publicado: (2013)

Type VI collagen-related nephropathy
por: Mori, Mutsuki, et al.
Publicado: (2022)

Barrier-to-Autointegration Factor (BAF) involvement in prelamin A-related chromatin organization changes
por: Loi, Manuela, et al.
Publicado: (2015)

Transglutaminase Modification of Tendon Collagen
por: Gross, Christopher E., et al.
Publicado: (2022)

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

Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases
por: Faldini, Cesare, et al.
Publicado: (2015)

Are powder-technology-built stems safe? A midterm follow-up registry study
por: Pardo, Francesco, et al.
Publicado: (2021)

Off-the-shelf 3D printed titanium cups in primary total hip arthroplasty
por: Castagnini, Francesco, et al.
Publicado: (2021)

Corneal vesicles accumulate collagen VI associated with tissue remodeling in apolipoprotein a-I deficiency: a case report
por: Namba, Hiroyuki, et al.
Publicado: (2017)

Therapeutic effects of asperosaponin VI in rabbit tendon disease
por: Wang, Kun, et al.
Publicado: (2022)

Zebrafish models of collagen VI-related myopathies
por: Telfer, W.R., et al.
Publicado: (2010)

Collagen VI in healthy and diseased nervous system
por: Gregorio, Ilaria, et al.
Publicado: (2018)

The Role of Type VI Collagen in Alveolar Bone
por: Komori, Taishi, et al.
Publicado: (2022)

Alpha-single chains of collagen type VI inhibit the fibrogenic effects of triple helical collagen VI in hepatic stellate cells
por: Freise, Christian, et al.
Publicado: (2021)

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)

Cannot write session to /tmp/vufind_sessions/sess_9cu1iavj2k7rsfl0mfvst2099k