Results 51 to 60 of about 7,069 (164)

ER proteostasis meets mitochondrial function: contact sites as hubs of communication and therapeutic targets

The FEBS Journal, EarlyView.
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna, Alessandro Cherubini, Ersilia Varone, Serena Germani, Alice Marrazza, Ester Zito   +5 more
wiley   +1 more source

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo‐obstruction

Journal of Internal Medicine, EarlyView.
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora, Carolina Malagelada, Claudio Fiorini, Danara Ormanbekova, Alessandro Berghella, Roberto D'Angelo, Rita Rinaldi, Cristiana Caliceti, Anna Costanzini, Mirella Falconi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli, Roberto De Giorgio   +17 more
wiley   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. [PDF]

, 2015
Dominant mutations in TPM3, encoding α-tropomyosin(slow), cause a congenital myopathy characterized by generalized muscle weakness. Here, we used a multidisciplinary approach to investigate the mechanism of muscle dysfunction in 12 TPM3-myopathy patients.
Beggs, AH, Clarke, NF, Cooper, ST, de Winter, JM, Ilkovski, B, Klinge, L, Marston, SB, McNamara, E, Mokbel, N, North, KN, Nowak, KJ, Ottenheijm, CA, Ravenscroft, G, Rendu, J, Yuen, M   +14 more
core   +1 more source

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, Volume 101, Issue 2, Page 751-803, April 2026.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan [PDF]

, 2003
Cataloged from PDF version of article.The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Atalay, R. C., Balci, B., Brockington, M., Dincel, D., Dincer, P., Gerceker, F. O., Haliloglu, G., Kale, G., Longman, C., Muntoni, F., Sue, B. B., Talim, B., Topaloglu, H., Torelli, S., Y. Yuva, Yakicier, C.   +15 more
core   +1 more source

Myomaker and Myomixer are required for craniofacial myoblast fusion in zebrafish

Developmental Dynamics, Volume 255, Issue 3, Page 246-259, March 2026.
Abstract Background Craniofacial and trunk skeletal muscles are derived from different progenitor populations during development. Trunk skeletal muscles contain mostly multinucleated myofibers that are formed through myoblast fusion. However, myoblast fusion in craniofacial muscles and its molecular regulation are not well understood.
Zhanxiong Zhang, Pengzheng Yong, Qiaomu Hu, Shaojun Du   +3 more
wiley   +1 more source

Tissue Triage and Freezing for Models of Skeletal Muscle Disease [PDF]

, 2014
Skeletal muscle is a unique tissue because of its structure and function, which requires specific protocols for tissue collection to obtain optimal results from functional, cellular, molecular, and pathological evaluations.
Beggs, Alan H., Childers, Martin K., Cossette, Stacy A., Frase, Alison, Grange, Robert W., Granzier, Henk, Gussoni, Emanuela, Janssen, Paul M.L., Lawlor, Michael W., Meng, Hui, Swanson, Lindsay C., Yang, Lin   +11 more
core   +2 more sources