Results 91 to 100 of about 28,319 (230)

The mitochondrial‐targeted antioxidant SkQ1 prevents skeletal muscle mitochondrial‐apoptotic but not necroptotic signalling during ovarian cancer

The Journal of Physiology, EarlyView.
Abstract figure legend An evaluation of the degree to which mitochondrial hydrogen peroxide emission (mH2O2)‐mediated apoptotic and necroptotic signalling contributes to skeletal muscle atrophy in an orthotopic epithelial ovarian cancer (EOC) model. To determine whether attenuating mH2O2 could prevent regulated cell death signalling and mitigate muscle
Shahrzad Khajehzadehshoushtar, Luca J. Delfinis, Fasih A. Rahman, Madison C. Garibotti, Shivam Gandhi, Aditya N. Brahmbhatt, Brooke A. Morris, Bianca Garlisi, Sylvia Lauks, Caroline Aitken, Leslie Ogilvie, Zhu‐Xu Zhang, Jeremy A. Simpson, Joe Quadrilatero, Jim Petrik, Christopher G. R. Perry   +15 more
wiley   +1 more source

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj  

Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy

Annals of Indian Academy of Neurology
Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) myopathy is a rare, slowly progressive myopathy primarily affecting distal muscles.
Esen Kiyan, Aylin Pihtili, Hacer Durmus, Yesim Parman   +3 more
doaj   +1 more source

Paraneoplastic Necrotizing Autoimmune Myopathy in a Patient Undergoing Laparoscopic Pancreatoduodenectomy for Distal Cholangiocarcinoma

Case Reports in Gastroenterology, 2016
A 73-year-old male presented with jaundice and severe muscle weakness. He was diagnosed with distal cholangiocarcinoma and paraneoplastic necrotizing autoimmune myopathy (NAM).
Stefan van Dijk, Anneke J. van der Kooi, Eleonora Aronica, Thomas M. van Gulik, Olivier R. Busch, Marc G. Besselink   +5 more
doaj   +1 more source

Facioscapulohumeral muscular dystrophy: more complex than it appears [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35).
RICCI, GIULIA, TUPLER, Rossella, Zatz, M
core   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

PACS2 Alleviates Sepsis‐Induced Myopathy by Activating ERK–MAPK Signalling Pathway to Suppress ER‐Phagy

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 3, June 2026.
ABSTRACT Background Sepsis‐induced myopathy (SIM) is a common and life‐threatening complication, but its underlying mechanisms remain poorly understood. PACS2, a key resident protein at mitochondria‐associated endoplasmic reticulum membranes (MAMs), regulates ER homeostasis under various pathological conditions.
Xuexin Li, Zu‐an Shi, Fei He, Guo Mu, Feixiang Wang, Bowen Sun, Xiaobin Wang, Li Liu   +7 more
wiley   +1 more source

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy [PDF]

, 2019
TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain is ...
Adams, A. M., Cabrera Serrano, Macarena, Carvajal, A., Dyke, J.M, Fernández García, M. A., Fletcher, S., Junckerstorff, R., Laing, N. G., Lamont, P.J., Mavillard Saborido, Fabiola, Nieto González, José Luis, Paradas, Carmen, Pelayo Negro, A. L., Ravenscroft, G., Rivas, Eloy, Servián Morilla, Emilia   +15 more
core   +1 more source

Detection of Diagnostic Antibodies in Immune‐Mediated Diseases: A Focus on Antigens and Technologies

ChemBioChem, Volume 27, Issue 9, 14 May 2026.
This review explores autoantibody detection in immune‐mediated diseases, highlighting autoantigens including post‐translational modifications. We compared enzyme‐linked immunosorbent assay and indirect immunofluorescence with automated chemiluminescence platforms.
Silvia Bracci, Feliciana Real‐Fernandez, Federico Pratesi, Francesca Nuti, Paolo Rovero, Anna Maria Papini   +5 more
wiley   +1 more source

Development and Structural Characterization of UTE‐156, a Covalent Inhibitor of the VCP/p97 AAA+ ATPase

Advanced Science, Volume 13, Issue 25, 4 May 2026.
The AAA+ ATPase Valosin‐containing protein (VCP/p97) regulates protein homeostasis by unfolding ubiquitinated substrates. Here, we describe UTE‐156, a novel irreversible covalent inhibitor that modifies Cys522 in the D2 ATPase motor domain. Although its pharmacochemical limitations preclude immediate therapeutic use, UTE‐156 serves as a valuable ...
Daniela Tamayo‐Jaramillo, Subramanya Hegde, Xuan Jia, Kimberly Coffman, Hariprasad Vankayalapati, David Bearss, Kevin B. Jones, Alex W. Stark, Peter S. Shen   +8 more
wiley   +1 more source