Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1055/s-2001-18929 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).
Mol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFβ-Triketones from Leptospermum scoparium (mānuka) oil show potential as scabicides.
Phytomedicine
December 2024
Scabies Laboratory, Infection and Inflammation Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia; School of Biomedical Sciences, University of Queensland, St Lucia, Brisbane, QLD, Australia. Electronic address:
Background: Scabies is a debilitating and neglected infectious disease with limited effective treatment options and affecting millions of people worldwide, mainly in poor and overcrowded settings. Essential oils from Australasian Myrtaceae are known to have parasiticidal properties, often attributed to the presence of β-triketones, which are known inhibitors of the tyrosine catabolism pathway through inhibition of hydroxyphenylpyruvate dioxygenase (HPPD).
Purpose: In this study, essential oils from mānuka (Leptospermum scoparium) were evaluated in vitro for miticidal and ovicidal activities and their active β-triketone constituents (flavesone, leptospermone, and isoleptospermone) were identified.
The association between helicobacter pylori infection and Triglyceride-Glucose (TyG) index in US adults: A retrospective cross-sectional study.
PLoS One
January 2025
Department of the Digestive Endoscopy, The Affiliated Hospital of Guizhou Medical University, Guiyang, China.
Background: The Triglyceride-glucose (TyG) index is a marker for insulin resistance and metabolic syndrome, while Helicobacter pylori is linked to gastrointestinal diseases and may affect metabolic risks. This study examined the association between the TyG index and H. pylori infection in adults.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Background: Circadian rhythm disorder is not only a characteristic of neurodegenerative diseases but may participate in driving the pathological development in early stages of these diseases. Transactive response DNA-binding protein of 43 kDa (TDP-43) knockdown and its pathological aggregation are associated with severe neurodegenerative diseases such as amyotrophic lateral sclerosis.
Methods: C57BL/6 mice were sleep deprived and sarcrificed at ZT0, ZT6, ZT12, and ZT18 and detected by Western blots.
Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.
Am J Med Genet A
January 2025
Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.
Aicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy. Janus kinase (JAK) inhibition has emerged as a potential treatment for AGS. RNU7-1 is one of the most recently discovered genes for AGS, and the clinical effects of JAK inhibition in these patients have not been reported.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!