Results 31 to 40 of about 4,895 (172)

Newborn Screening for Pompe Disease [PDF]

, 2021
Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment.

core   +1 more source

DNA‐Enzyme Hybrid Nanostructures: Functional Materials to Modulate Enzymatic Activity

Small, EarlyView.
DNA–enzyme hybrid nanostructures enable precise spatial and stoichiometric control over enzyme organization, offering a powerful platform to modulate catalytic activity. This review critically evaluates key mechanistic hypotheses, including proximity effects, microenvironment changes, confinement, and stabilization, as well as highlighting ...
Manar Elnaggar, Amelie Heuer‐Jungemann
wiley   +1 more source

Minocycline-associated rimmed vacuolar myopathy in a patient with rheumatoid arthritis

BMC Neurology, 2012
Background The autophagic vacuolar myopathies (AVM) are a group of inherited myopathies defined by the presence of autophagic vacuoles in pathological muscle specimens.
Bokuda Kota, Sugaya Keizo, Tamura Shunichiro, Miyamoto Kazuhito, Matsubara Shiro, Komori Takashi   +5 more
doaj   +1 more source

Diving Deeper Into Mechanisms of Acrylamide‐Induced Toxicity: RNA Sequencing Reveals Transcriptomic Alteration and Retrotransposon Expression in Drosophila melanogaster

Environmental Toxicology, EarlyView.
ABSTRACT Given the inevitability of human and animal exposure to acrylamide, there is increasing concern regarding its potential health risks. While a number of molecular mechanisms have been proposed, the complexity of acrylamide toxicological pathways and interactions remains incompletely characterized.
Oluwabukola Mary Farodoye, Titilayomi Ayomide Otenaike, Daniela Moreira Mombach, Monica Medeiros Silva, Amos Olalekan Abolaji, Elgion Lucio Da Silva Loreto   +5 more
wiley   +1 more source

Antioxidant Activity and Inhibition of Carbohydrate Hydrolyzing Enzymes by Underutilized Parts From Some Plant‐Based Foods and Their Effect on Postprandial Hyperglycemia

Food Chemistry International, Volume 2, Issue 2, Page 285-294, June 2026.
The underutilized parts viz: pawpaw seed, banana, plantain, and potato peels showed promising antioxidant and inhibition of α‐amylase and α‐glucosidase activities (IC50 values ≤ 100 μg/mL). Similarly, pawpaw seed, banana, plantain, and potato peels reduced postprandial hyperglycemia in sucrose‐ and maltose‐induced hyperglycemia in rats.
Aminu Mohammed, Buhari Shehu Saidu, Nuhu Aliyu, Michael Peter Simon   +3 more
wiley   +1 more source

Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1970
Acid maltase (AM) deficiency carriers can be detected by muscle enzyme assay. The assay indicates that, just as in infantile and childhood cases, adult cases of the disease are transmitted by autosomal recessive inheritance. With the maltose hydrolysis assay, in some neuromuscular diseases, muscle AM activity can be as low as in heterozygous AM ...
A G, Engel, M R, Gomez
openaire   +2 more sources

Bioactive Composition and Antioxidant and Glycemic‐Regulating Properties of Basella alba L. Leaf, Fruit, and Stem: GC–MS, FTIR, In Vitro and In Silico Insights

Food Science &Nutrition, Volume 14, Issue 6, June 2026.
The bioactive composition, antioxidant capacity, and glycemic‐regulating properties of Basella alba L. leaf, fruit, and stem were comparatively analyzed using gas chromatography–mass spectrometry (GC–MS), Fourier‐transform infrared spectroscopy (FTIR), in vitro assays, and molecular docking analyses.
Shorna Das, Satyajit Roy Rony, Bidduth Kumar Sarkar, Sukalyan Kumar Kundu, Pradip Debnath   +4 more
wiley   +1 more source

Phytochemical Diversity, Nutritional Values, and Biological Properties of Halopithys incurva (Hudson) Batters, 1902

Food Science &Nutrition, Volume 14, Issue 4, April 2026.
Halopithys incurva is a red macroalga distributed across the Mediterranean Sea and North‐East Atlantic, with occasional reports from the Indian Ocean. It exhibits a rich chemical diversity, including isoflavones, bromophenols, MAAs, pigments, phycobiliproteins, primary metabolites, and neuroactive compounds.
Youssra Aalilou, Abdelhakim Bouyahya, Kaoutar Benrahou, Mustapha Hassoun, Hanaa Moussa, Issam Ameziane El Hassani, Waleed Al Abdulmonem, Learn‐Han Lee, Gokhan Zengin, My El Abbes Faouzi   +9 more
wiley   +1 more source

Oleoylethanolamide regulates intestinal stem cell activity and villus size via PPARα signaling pathway

iMetaOmics, Volume 3, Issue 1, March 2026.
First use of a natural swine model with lipid metabolism to directly link lipid differences to a quantifiable intestinal villus height phenotype. Identified the phospholipid‐derived oleoylethanolamide, rather than canonical fatty acids, as the endogenous primary ligand that activates peroxisome proliferator‐activated receptors α (PPARα) to enlarge ...
Qianqian Wang, Lanmei Yin, Zhaobin Wang, Jun Li, Xianglin Zeng, Qiye Wang, Jianzhong Li, Kang Xu, Huansheng Yang, Yulong Yin   +9 more
wiley   +1 more source

Headache: A Presentation of Pompe Disease; A Case Report

Caspian Journal of Neurological Sciences, 2017
Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme.
Fariborz Rezaeitalab, Reza Boostani, Ali Ghabeli-Juibary, Sara Mali   +3 more
doaj