Results 101 to 110 of about 35,500 (218)
This study investigated the effects of GAA, an active ingredient in Ganoderma lucidum, on exercise‐induced fatigue. GAA effectively enhances exercise performance by improving endurance duration while simultaneously reducing metabolic byproducts and muscle fiber damage.
Jialin Zhu +8 more
wiley +1 more source
RNA‐Based Therapies for Inherited Metabolic Disorders
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri +5 more
wiley +1 more source
ABSTRACT Transplantation is an effective therapeutic option to improve quality of life in patients with severe methylmalonic acidemia (MMA). However, data regarding neurological complications following transplantation remain limited. A retrospective, single‐center study was conducted at Necker Hospital (France), including MMA patients who underwent ...
Adélaïde Vissac +25 more
wiley +1 more source
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency
ABSTRACT Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in ALDH5A1, encoding the mitochondrial enzyme SSADH. This enzyme catalyses the conversion of succinic semialdehyde to succinic acid in the γ‐aminobutyric acid (GABA) degradation pathway.
Sharmila Kiss +10 more
wiley +1 more source
Mitochondrial Dysfunction in Propionic Acidemia: A Case‐Report and Review of the Literature
ABSTRACT Propionic acidemia is an inborn error of metabolism involving an enzymatic defect of propionyl‐CoA carboxylase that results in the build‐up of toxic metabolites which can induce metabolic decompensation. Secondary mitochondrial dysfunction in propionic acidemia has been commonly recognized; however, its clinical presentation and management are
Brandon K. Walther +5 more
wiley +1 more source
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
ABSTRACT Carbonic anhydrase VA (CAVA) deficiency (OMIM 114761) is an ultra‐rare inborn error of metabolism with fewer than 20 cases described. Affected infants present in the first days of life with hyperammonaemia, lactic acidosis, ketonaemia and encephalopathy.
Sophie Manoy +10 more
wiley +1 more source
Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib
ABSTRACT Glycogen storage disease 1b (GSD1b) typically presents in early infancy with poor fasting tolerance, hepatomegaly, and neutropenia. We report two siblings who were diagnosed with GSD1b in adulthood. Both had a normal fasting tolerance throughout childhood and, as adults, were able to fast for at least 16 h without developing hypoglycaemia. The
Gregory Lynch +5 more
wiley +1 more source
LKB1–AMPK Signaling Pathway in Cardiovascular and Other Diseases
The LKB1–AMPK pathway has a central regulatory role in various diseases. Dysfunction of this pathway can lead to pathological processes in cardiovascular diseases (atrial fibrillation, myocardial infarction, myocardial hypertrophy, atherosclerosis), metabolic diseases (diabetes and kidney disease), neurodegenerative diseases (Alzheimer's disease ...
Zhuo Chen, Qin Yang, Guo‐Wei He
wiley +1 more source
Multifacet Roles of Cellular Senescence in Cancer: Mechanisms and Therapeutic Implications
Cellular senescence shapes tumor progression through both antitumor and protumor mechanisms. Senescence triggered by telomere shortening restricts malignant transformation and limits tumor cell proliferation, while the senescence‐associated secretory phenotype (SASP) secretion enhances antitumor immunity by activating cytotoxic T cells.
Huajie Mao +5 more
wiley +1 more source

