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Genetics of Muscle Disease.
Vet Clin North Am Equine Pract
January 2025
Department of Veterinary Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Room 4206 Vet Med 3A One Shields Avenue, Davis, CA 95616, USA. Electronic address:
In the field of equine muscle disorders, many conditions have a genetic basis. Therefore, genetic testing is an important part of the diagnostic evaluation. Validated genetic tests are currently available for 5 equine muscle disorders: hyperkalemic periodic paralysis, malignant hyperthermia, glycogen branching enzyme disease, type 1 polysaccharide storage myopathy, and myosin heavy chain myopathy.
View Article and Find Full Text PDFMyofibrillar Myopathy.
Vet Clin North Am Equine Pract
January 2025
Department of Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, CO, USA. Electronic address:
Myofibrillar myopathy (MFM) is characterized by segmental disarray of myofibrils and ectopic accumulation of a protein called desmin. Previously thought to be a glycogen storage disease, MFM is now recognized as a stand-alone myopathy. Endurance Arabians with MFM usually present with exertional rhabdomyolysis (MFM-ER) at the end of races, elevated serum muscle enzymes, and myoglobinuria.
View Article and Find Full Text PDFGastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.
Orphanet J Rare Dis
January 2025
Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.
Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.
Exploring the Internal Environmental Changes of Muscle Cells and Apoptotic Phase of Mitochondria in Dry-Cured Loin Using Electrical Stimulation: Promoting the Precise Regulation of Loin Ham Quality.
J Agric Food Chem
January 2025
Guizhou Key Laboratory of New Quality Processing and Storage of Ecological Specialty Food; School of Liquor and Food Engineering, Guizhou University, Guiyang 550025, China.
Traditional dry-curing methods have a long cycle time and low efficiency, resulting in the inconsistent quality of dry-cured ham. By applying electrical stimulation (ES) technology in the dry-curing process, it was found that ES affected mitochondrial apoptosis by modulating the intracellular environment of muscle cells, which, in turn, enhanced the quality of dry-cured pork loin. Specifically, ES accelerated glycogen and ATP depletion, which led to a rapid decline in pH.
View Article and Find Full Text PDFUnderstanding the electron pathway fluidity of Synechocystis in biophotovoltaics.
Plant J
January 2025
Systems Biotechnology Group, Department Microbial Biotechnology, Helmholtz Centre for Environmental Research - UFZ, Leipzig, 04318, Germany.
Biophotovoltaics offers a promising low-carbon footprint approach to utilize solar energy. It aims to couple natural oxygenic photosynthetic electrons to an external electron sink. This lays the foundation for a potentially high light-to-energy efficiency of the Biophotovoltaic process.
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