Results 131 to 140 of about 44,988 (276)

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome [PDF]

, 2010
Lisa G. Riley, Sandra T. Cooper, Peter F. Hickey, Joëlle Rudinger‐Thirion, Matthew McKenzie, Alison G. Compton, Sze Chern Lim, David R. Thorburn, Michael T. Ryan, Richard Giegé, Melanie Bahlo, John Christodoulou   +11 more
openalex   +1 more source

Slow Transit Constipation: Pathophysiological Perspectives and Management Updates

Journal of Digestive Diseases, EarlyView.
Slow transit constipation (STC) is a complex neuromuscular disorder driven by interstitial cells of Cajal (ICCs) loss and enteric neuropathy. Diagnosis relies on objective transit testing while excluding pelvic floor dysfunction. Management follows a stepwise, phenotype‐driven approach, progressing from conventional laxatives to emerging targeted ...
Athanasios Syllaios, Stavros P. Papadakos, Alexandros Ioannou, Maximos Frountzas, Dimosthenis Michelakis, Dimitrios Patsouras, Spyridon Dritsas, Manousos‐Georgios Pramateftakis, Dimitrios Schizas   +8 more
wiley   +1 more source

A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy. [PDF]

EMBO Mol Med, 2023
Southwell N, Primiano G, Nadkarni V, Attarwala N, Beattie E, Miller D, Alam S, Liparulo I, Shurubor YI, Valentino ML, Carelli V, Servidei S, Gross SS, Manfredi G, Chen Q, D'Aurelio M.   +15 more
europepmc   +1 more source

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, EarlyView.
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

Reversible cardiac function and left ventricular hypertrophy in a Chinese man with mitochondrial myopathy: a case report. [PDF]

BMC Cardiovasc Disord, 2023
Wu G, Han Y, Zhao L, Zhang H, Fan X, Li W, Che X, Zhou Y.   +7 more
europepmc   +1 more source

Reply: “Leigh Syndrome Due to the Variant c.1019T>C in COX15”

Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris, Sangeetha Yoganathan, Marcus N. Callister, Liali Aljouda, Vivek Pai, Pradeep Krishnan, Andrea LeBlanc Miller, Christos Ganos, Carolina Gorodetsky   +8 more
wiley   +1 more source

LCN2‐ACOD1 Signalling Affects the Post‐Injury Regeneration of Skeletal Muscle Through Mediating Ferroptosis

Cell Proliferation, EarlyView.
LCN2 mediates the suppression of C2C12 myoblast proliferation and myotube formation via erastin‐induced ferroptosis. Mechanistically, the LCN2‐ACOD1 axis regulates skeletal muscle growth via mitochondria‐associated ferroptosis, providing a theoretical basis for the prevention and therapy of muscle‐related diseases.
Xiaojing Hao, Hongwei Shi, Di Wu, Rui Liang, Tong Zhao, Wen Sun, Yue Wang, Xiuju Yu, Xiaomao Luo, Yi Yan, Jiayin Lu, Haidong Wang, Juan Wang   +12 more
wiley   +1 more source

Lactate metabolism is essential in early-onset mitochondrial myopathy. [PDF]

Sci Adv, 2023
Chen Z, Bordieanu B, Kesavan R, Lesner NP, Venigalla SSK, Shelton SD, DeBerardinis RJ, Mishra P.   +7 more
europepmc   +1 more source

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

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. [PDF]

Neurology, 2023
Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M, MMPOWER-3 Trial Investigators.   +32 more
europepmc   +1 more source