Results 181 to 190 of about 733,267 (264)

Establishing an assay to evaluate d‐amino acid oxidase enzyme kinetics and inhibition using WST‐8 redox dye

FEBS Open Bio, EarlyView.
This study investigated a novel WST‐8‐based assay for evaluating d‐Amino acid oxidase (DAO) inhibitors. We confirmed its effectiveness using known inhibitors and found that uremic toxins possess relatively weak inhibitory activity compared to existing drugs.
Kahoko Miyake, Yuki Enoki, Yuka Nakazawa, Kazuaki Taguchi, Kazuaki Matsumoto   +4 more
wiley   +1 more source

Conquest of deficiency diseases. 10. Other deficiency diseases.

Indian journal of medical sciences, 1972
openaire   +1 more source

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population. [PDF]

Front Pediatr
Shafique K, Raza A, Naushad A, Hussain F, Walid D, Wareth L, El-Hattab AW, Bedair RN, Al Dweik R, Sadier NS.   +9 more
europepmc   +1 more source

Iron homeostasis disruption and lipid peroxidation in skeletal muscle during short‐term immobilization

FEBS Open Bio, EarlyView.
14‐day casting‐induced immobilization reduced gastrocnemius muscle mass and increased non‐heme iron and ferritin heavy chain levels. Despite iron accumulation, transferrin receptor 1 and iron regulatory protein 2 were paradoxically upregulated. Lipid peroxidation was elevated without compensatory antioxidant responses.
Haruka Yokogawa, Kazuhiko Higashida, Naoya Nakai   +2 more
wiley   +1 more source

A Comprehensive Literature Review and Case Report of Severe Lymphoproliferative Disease Secondary to <i>CD137</i> Deficiency. [PDF]

J Clin Med
Algrafi AS, Alwasaidi T, Albalawi M, Alzahrani M, Almutairi S, Osman H.   +5 more
europepmc   +1 more source

Proteasomal degradation of intracellularly expressed Amblyomin‐X limits suicide gene therapy potential in melanoma cells

FEBS Open Bio, EarlyView.
This study explores the feasibility of expressing the antitumoral protein Amblyomin‐X through a suicide gene therapy approach and investigates its intracellular fate after gene delivery. Although the gene is efficiently expressed, melanoma cells rapidly degrade the Amblyomin‐X protein via proteasome activity.
Victor Dal Posolo Cinel, Carlos DeOcesano Pereira, Aline Ramos Maia Lobba, Melissa Regina Fessel, Ana Marisa Chudzinski‐Tavassi   +4 more
wiley   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review. [PDF]

J Inherit Metab Dis
Jaeger B, Stolwijk NN, Aaldering F, Ruys CA, Smits M, Wolf NI, Hollak CEM, Bosch AM.   +7 more
europepmc   +1 more source

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

FEBS Open Bio, EarlyView.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik, Russell Pickford, Hannah C. Timmins, Olivier Piguet, Glenda M. Halliday, Matthew C. Kiernan, Woojin Scott Kim   +6 more
wiley   +1 more source

Benchmarking genetic birth prevalence estimates against newborn screening data. [PDF]

Am J Hum Genet
Sierant MC, Knoblauch N, Witt E, Gaffney D, Pulit SL, Wuster A.   +5 more
europepmc   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source