Results 51 to 60 of about 5,760 (129)
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid disorder caused by a deficiency in CYP27A1, the first enzyme in the bile acid biosynthesis pathway.
Yudibeth Sixto-López +4 more
doaj +1 more source
It is well known that drug disposition and response are greatly determined by the activities of drug metabolizing enzymes, which are polymorphic.
Vera Dias, V Ribeiro
doaj +1 more source
ABSTRACT Fungal polysaccharides (FPs) represent a diverse class of bioactive macromolecules widely studied for their nutritional, therapeutic, and biotechnological value. This review synthesizes recent advances (2020–2025) in the structural characterization, biological functions, and translational potential of FPs.
Muhammad Aaqil +6 more
wiley +1 more source
Prenatal dexamethasone exposure (PDE) can increase offspring susceptibility to various diseases. However, the pathogenesis and early prevention for PDE offspring prone to cholestatic liver injury have been unclear.
Wen Hu +7 more
doaj +1 more source
Review Article: Targeting Peroxisome Proliferator‐Activated Receptors in Primary Biliary Cholangitis
Peroxisome proliferator‐activated receptor (PPAR) agonists have emerged as important second‐line treatments in primary biliary cholangitis, with profiles influenced by different selectivity for α‐, δ‐ and γ‐isoforms. PPAR‐α and PPAR‐δ agonism improve cholestasis, with inflammation reduced via all isoforms. PPAR‐δ agonism also reduces pruritus.
Jörn M. Schattenberg +8 more
wiley +1 more source
N,N-dimethyl-3β-hydroxycholenamide (DMHCA) is an experimental pharmaceutical and a steroidal liver X receptor (LXR) agonist, which does not induce undesired hepatic lipogenesis.
Nicole El-Darzi +5 more
doaj +1 more source
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis +19 more
wiley +1 more source
Diabetes is an independent risk factor for gallstones. It upregulates CXCR2 expression in hepatic neutrophils, stimulating the formation of NETs that disrupt hepatocellular tight junctions and the liver‐bile barrier. NETs enter bile to accelerate gallstone development, while sarcosine inhibits CXCR2 and NETs production, effectively reducing diabetes ...
Chao Shi +10 more
wiley +1 more source
EA exerts therapeutic effects in ischemic stroke through multiple mechanisms: it alleviates acute injury by suppressing neuroinflammation, excitotoxicity, oxidative stress, apoptosis, pyroptosis, ferroptosis, autophagy dysregulation, and blood–brain barrier disruption, while enhancing cerebral blood flow, angiogenesis, and neurogenesis to support ...
Mingyue Zhao +8 more
wiley +1 more source
Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1.
Philip Höflinger +5 more
doaj +1 more source

