Lycopene attenuates western-diet-induced cognitive deficits via improving glycolipid metabolism dysfunction and inflammatory responses in gut–liver–brain axis
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Obesity"
DOI: 10.1038/s41366-018-0277-9
Abstract: Background/objectivesThe aim of the current study was to investigate the inhibitory effect of lycopene (LYC), a major carotenoid present in tomato, on high-fat and high-fructose western diet (HFFD)-induced cognitive impairments and the protective effects on… read more here.
Keywords: inflammatory responses; dysfunction inflammatory; dysfunction; metabolism dysfunction ... See more keywords
Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000411
Abstract: Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two… read more here.
Keywords: dysfunction syndrome; clinical genetic; dysfunction; metabolism dysfunction ... See more keywords
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000490
Abstract: Introduction Biallelic variants in thiamine pyrophosphokinase 1 (TPK1) are known to cause thiamine metabolism dysfunction syndrome 5 (THMD5). This disorder is characterized by neuroregression, ataxia and dystonia with basal ganglia abnormalities on neuroimaging. To date,… read more here.
Keywords: metabolism dysfunction; homozygous variant; variant; three unrelated ... See more keywords
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment
Sign Up to like & getrecommendations! Published in 2025 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-025-03665-9
Abstract: Thiamine metabolism dysfunction syndrome 5 (TMDS5) is a rare inborn error of metabolism caused by variants in TPK1, leading to reduced TPK levels. This enzyme is crucial for the production of thiamine pyrophosphate, the active… read more here.
Keywords: thiamine; metabolism dysfunction; treatment; metabolism ... See more keywords