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Condition: Inclusion-Body Myositis

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Total 690 results found since Jan 2013.

Skeletal muscle cell protein dysregulation highlights the pathogenesis mechanism of myopathy-associated p97/VCP R155H mutations
p97/VCP, a hexametric member of the AAA-ATPase superfamily, has been associated with a wide range of cellular protein pathways, such as proteasomal degradation, the unfolding of polyubiquitinated proteins, and autophagosome maturation. Autosomal dominant p97/VCP mutations cause a rare hereditary multisystem disorder called IBMPFD/ALS (Inclusion Body Myopathy with Paget’s Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis), characterized by progressive weakness and subsequent atrophy of skeletal muscles, and impacting bones and brains, such as Parkinson’s disease, Lewy body disease, Huntington’s disease...
Source: Frontiers in Neurology - August 3, 2023 Category: Neurology Source Type: research

Magnetic Resonance Imaging Findings of the Lower Limb Muscles in Anti-Mitochondrial M2 Antibody-Positive Myositis
Group of disorders characterized by myositis symptoms, including progressive muscle weakness and muscle inflammation in a setting of autoimmune abnormalities are collectively known as autoimmune myositis (AIM) or idiopathic inflammatory myopathy [1,2], including dermatomyositis (DM), anti-synthetase syndrome (ASS), immune-mediated necrotizing myopathy (IMNM), inclusion body myositis (IBM) [3,4] and other less well-characterized conditions.
Source: Neuromuscular Disorders - July 25, 2023 Category: Neurology Authors: Hirotaka Nomiya, Tadanori Hamano, Naoko Takaku, Hirohito Sasaki, Kojiro Usui, Sayaka Sanada, Tomohisa Yamaguchi, Yuki Kitazaki, Yoshinori Endo, Tomoko Kamisawa, Soichi Enomoto, Norimichi Shirahuzi, Akiko Matsunaga, Asako Ueno, Masamichi Ikawa, Osamu Yamam Tags: Research paper Source Type: research

Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodies
Conclusions Based on these findings, we hypothesise that anti-Mi2 autoantibodies could exert a pathogenic effect by entering damaged myofibres, inhibiting the CHD4/NuRD complex, and subsequently derepressing the unique set of genes defined in this study.
Source: Annals of the Rheumatic Diseases - July 13, 2023 Category: Rheumatology Authors: Pinal-Fernandez, I., Milisenda, J. C., Pak, K., Munoz-Braceras, S., Casal-Dominguez, M., Torres-Ruiz, J., Dell'Orso, S., Naz, F., Gutierrez-Cruz, G., Duque-Jaimez, Y., Matas-Garcia, A., Padrosa, J., Garcia-Garcia, F. J., Guitart-Mampel, M., Garrabou, G., Tags: ARD, Myositis Source Type: research

Molecular signature of neutrophil extracellular trap mediating disease module in idiopathic inflammatory myopathy
J Autoimmun. 2023 May 21;138:103063. doi: 10.1016/j.jaut.2023.103063. Online ahead of print.ABSTRACTThe rarity and heterogeneity of idiopathic inflammatory myopathy (IIM) pose challenges for researching IIM in affected individuals. We analyzed integrated transcriptomic datasets obtained using muscle tissues from patients with five distinct IIM subtypes to investigate the shared and distinctive cellular and molecular characteristics. A transcriptomic dataset of muscle tissues from normal controls (n = 105) and patients with dermatomyositis (n = 89), polymyositis (n = 33), inclusion body myositis (n = 121), immune-mediated n...
Source: Journal of Autoimmunity - May 23, 2023 Category: Allergy & Immunology Authors: Su-Jin Moon Seung Min Jung In-Woon Baek Kyung-Su Park Ki-Jo Kim Source Type: research

Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor induced myositis
Conclusions We identified three distinct types of ICI-myositis based on transcriptomic analyses. The IL6 pathway was overexpressed in all groups, the type I interferon pathway activation was specific for ICI-DM, the type 2 IFN pathway was overexpressed in both ICI-DM and ICI-MYO1 and only ICI-MYO1 patients developed myocarditis.
Source: Annals of the Rheumatic Diseases - May 11, 2023 Category: Rheumatology Authors: Pinal-Fernandez, I., Quintana, A., Milisenda, J. C., Casal-Dominguez, M., Munoz-Braceras, S., Derfoul, A., Torres-Ruiz, J., Pak, K., Dell'Orso, S., Naz, F., Gutierrez-Cruz, G., Milone, M., Shelly, S., Duque-Jaimez, Y., Tobias-Baraja, E., Matas-Garcia, A., Tags: ARD, Myositis Source Type: research

Clinical pearls and promising therapies in myositis
Expert Rev Clin Immunol. 2023 May 9. doi: 10.1080/1744666X.2023.2212162. Online ahead of print.ABSTRACTINTRODUCTION: Idiopathic inflammatory myopathies (IIMs) represent a diverse group of systemic autoimmune disorders with variable clinical manifestations and disease course. Currently, the challenges of IIMs are multifold, including difficulties in timely diagnosis owing to clinical heterogeneity, limited insights into disease pathogenesis, as well as a restricted number of available therapies. However, advances utilizing myositis-specific autoantibodies (MSAs) have facilitated the definition of subgroups as well as predic...
Source: Expert Review of Clinical Immunology - May 9, 2023 Category: Allergy & Immunology Authors: Caoilfhionn M Connolly Julie J Paik Source Type: research

Association of Anti ‐CCAR1 Autoantibodies With Decreased Cancer Risk Relative to the General Population in Patients With Anti–Transcriptional Intermediary Factor 1γ–Positive Dermatomyositis
ConclusionAnti-CCAR1 autoantibodies are specific for anti-TIF1 γ–positive DM. Their presence in anti-TIF1γ–positive patients attenuates the risk of cancer to a level comparable to that seen in the general population.
Source: Arthritis and Rheumatology - May 9, 2023 Category: Rheumatology Authors: David Fiorentino, Christopher A. Mecoli, Tak Igusa, Jemima Albayda, Julie J. Paik, Eleni Tiniakou, Brittany Adler, Andrew L. Mammen, Ami A. Shah, Antony Rosen, Lisa Christopher ‐Stine, Livia Casciola‐Rosen Tags: Full Length Source Type: research

VCP-related myopathy: a case series and a review of literature
We describe phenotypic and genetic findings of five patients with four different mutations in VCP gene (NM_007126): c.278G > A (p.R93H), c.463C > T (p.R155C), c.410C > T (p.P137L), c.464G > A (p.R155H), c.410C > T (p.P137L). We analysed the patient' biopsies, all characterized by a muscular phenotype, and we executed immunofluorescence staining to evaluate the presence of proteins: p62, VCP, desmin, myotilin, TDP-43. Eventually we performed a brief literature review to compare our cases with those already reported. Our report strongly suggest that VCP gene mutations can be related with a predominant skeletal...
Source: Acta Myologica - April 24, 2023 Category: Neurology Authors: Eliana Iannibelli Sara Gibertini Marta Cheli Flavia Blasevich Andrea Cavaliere Giorgia Riolo Alessandra Ruggieri Lorenzo Maggi Source Type: research