research Glucose-Activated Nanoreactor Initiating Cascade Reaction to Remodel Immune Microenvironment for Promoting Diabetic Wound Healing
MCP@G improves diabetic wound healing by reducing stress and promoting tissue repair.
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research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research Collective heterogeneity of mitochondrial potential in contact inhibition of proliferation
Mitochondrial activity varies in cells before they stop growing, affecting their growth potential.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research The Performance of Glycated Hemoglobin vs. Oral Glucose Tolerance Test in the Diagnosis of Glycemic Disorders among Women with Polycystic Ovary Syndrome in Southern Iraq
Glycated hemoglobin is not as effective as the oral glucose tolerance test for diagnosing blood sugar problems in women with PCOS in Southern Iraq.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Ethylene glycol toxicity in two calves
Two calves died from ethylene glycol poisoning, a condition more common in pets.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Decline of life’s energy theory of ageing 1. Revitalisation of energy metabolism and ageing mitochondria
Boosting mitochondrial energy production with supplements like acetyl-L-carnitine may improve aging-related cellular function and health conditions.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Pro-Insulin-Like Growth Factor-II Ameliorates Age-Related Inefficient Regenerative Response by Orchestrating Self-Reinforcement Mechanism of Muscle Regeneration
Pro-IGF-II improves muscle repair in old mice.
research Glycogen phase separation drives macromolecular rearrangement and asymmetric division in E. coli
Glycogen helps E. coli cells divide unevenly and organize their contents.
research The role of phosphoglycerate dehydrogenase in cell proliferation and tumor progression
PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research Advancing mitochondrial therapeutics: Synthesis and pharmacological evaluation of pyrazole-based inhibitors targeting the mitochondrial pyruvate carrier
New pyrazole-based inhibitors show promise for treating metabolic diseases and other conditions.
research Efficacy and safety of glucocorticoids in the treatment of progressive muscular dystrophy in children: a systematic review and meta-analysis
Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
research Mitochondrial deoxyguanosine kinase depletion induced ROS causes melanocyte stem cell exhaustion and hair greying
Lack of a certain enzyme causes hair to grey early by damaging stem cells, but an antioxidant can help prevent this.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Endosymbiosis-inspired engineering of mitochondrial-enriched extracellular vesicles supercharges host mitochondria via the autophagy-lysosome pathway
Engineered vesicles deliver mitochondria to improve diabetic wound healing.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research A functional study of a case of glucagonoma exhibiting typical glucagonoma syndrome
A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
research Functional stem-cell based tissue engineered vascular grafts for high-risk donor populations
Diabetic patients' stem cells make vascular grafts more prone to clots, but new methods may improve grafts.