Results 211 to 220 of about 17,660 (277)

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Variation in Shear Force, Cooking Loss, pH, and Sarcomere Length of Eight Different Muscles Collected from Australian Rangeland Goats. [PDF]

Foods
Holman BWB.
europepmc   +1 more source

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Coenzyme A (CoA) biosynthesis is a conserved, dynamically regulated pathway essential for mitochondrial energy production, fatty acid oxidation, lipid biosynthesis and protein acylation. Biallelic variants in PANK2, PPCS, PPCDC, and COASY cause rare inborn errors of CoA biosynthesis, associated with markedly different clinical phenotypes ...
Ivano Di Meo, Yair Anikster, Valeria Tiranti, Arcangela Iuso   +3 more
wiley   +1 more source

Bidirectional role of Costameres in the pathophysiology of mdx skeletal muscles. [PDF]

Hum Mol Genet
Banks GB, Bisset DR, Chamberlain JS.
europepmc   +1 more source

Immunoglobulin Kappa Light Chain Produced by Cardiomyocytes and Participates in Maintaining Intercalated Disc Integrity

MedComm, Volume 7, Issue 9, September 2026.
This study identifies Igκ expression in cardiomyocytes, with predominant localization at ICDs. Cardiomyocyte‐specific Igκ knockout induces cardiac dysfunction and ICDs structural disorganization. Mechanistically, Igκ stabilizes plectin to facilitate desmin‒actin network assembly and anchor desmin to DSP, which is critical for maintaining ICDs ...
Zhu Zhu, Yixuan Sheng, Yun Chang, Yuan Chang, Miaomiao Xu, Wenjing Zhou, Wenxiu Wang, Qingyuan Liao, Zhan Shi, Meng Zhang, Feng Lan, Jiangping Song, Xiaoyan Qiu   +12 more
wiley   +1 more source

Serial sarcomere adaptation to eccentric overload training is blunted in ovariectomized rats. [PDF]

Physiol Rep
Rilling A, Kirkup AQ, Hinks A, Franchi MV, Power GA.   +4 more
europepmc   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, Volume 26, Issue 9, Page 6-23, September 2026.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Proteomic Remodeling in the Failing Left Ventricle Adapting to Dyssynchrony

PROTEOMICS – Clinical Applications, Volume 20, Issue 5, September 2026.
ABSTRACT Purpose In heart failure, dyssynchrony is associated with accelerated cardiac remodeling and a worse prognosis. Both restored with resynchronization. We have previously developed a mouse model of dyssynchrony and resynchronization and here assess changes in protein expression within that model.
Karin Ljung, Nitha Aima Muntu, Ulrika Reistam, Jonathan A. Kirk, Marcus Ståhlberg   +4 more
wiley   +1 more source

The pseudokinase domain PK1 of UNC-89/obscurin is required for mitochondrial morphology and function in C. elegans. [PDF]

J Muscle Res Cell Motil
Matsunaga Y, Ghazal N, Heim A, Dorendorf T, Qadota H, Wang Y, Mayer TU, Mayans O, Kwong JQ, Benian GM.   +9 more
europepmc   +1 more source

A Biomimetic 3D Human Skeletal Muscle Microtissue for Modeling Biological and Functional Hallmarks of Aging

Small Science, Volume 6, Issue 9, September 2026.
A biomimetic 3D human skeletal muscle microtissue platform is developed by integrating primary young and aged SkMCs with muscle‐derived dECM and 3D‐printed PCL anchors. Aged constructs recapitulate selected biological and functional hallmarks of skeletal muscle aging, including impaired myotube formation, mitochondrial alterations, calcium handling ...
Sohae Yang, Jeong Sik Kong, Hyun Young Shin, Sung Chun Cho, Aseer Intisar, Min Young Kim, Yeong‐Jin Choi, Yun‐Il Lee, Dong‐Woo Cho, Minseok S. Kim   +9 more
wiley   +1 more source