Results 111 to 120 of about 1,481,010 (254)

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy

open access: yesOrphanet Journal of Rare Diseases
Objective Autosomal dominant pathogenic variants in WFS1 cause a spectrum of disorders with phenotypic manifestations including low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss,
Jessica P. Roberts   +8 more
doaj   +1 more source

Lipid metabolism in chronic obstructive pulmonary disease

open access: yes, 2019
Haipin Chen,1 Zhouyang Li,1 Lingling Dong,1 Yinfang Wu,1 Huahao Shen,1,2 Zhihua Chen11Key Laboratory of Respiratory Disease of Zhejiang Province, Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Zhejiang University ...
Li Z   +5 more
core  

Gut-Microbiota-Driven Lipid Metabolism: Mechanisms and Applications in Swine Production

open access: yes
Background/Objectives: The gut microbiota plays a pivotal role in host physiology through metabolite production, with lipids serving as essential biomolecules for cellular structure, metabolism, and signaling.
Shuqi Xiong
core   +1 more source

Evaluating the effect of γ‐oryzanol on MASLD pathology using a medaka fish model

open access: yesFEBS Open Bio, EarlyView.
This study explores a liver disease called MASLD, which is increasing worldwide and can lead to serious damage. Researchers used medaka fish instead of rodents to test a food compound, γ‐oryzanol. Fish fed this compound had less liver fat and healthier gut bacteria.
Yukako Ito   +7 more
wiley   +1 more source

Use of structured triacylglycerols containing predominantly stearic and oleic acids to probe early events in metabolic processing of dietary fat

open access: yesJournal of Lipid Research, 1999
Early events in the metabolic processing of dietary triacylglycerol may have an important impact on subsequent development of risk factors for coronary heart disease.
Lucinda K.M. Summers   +6 more
doaj   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

open access: yesFEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez   +6 more
wiley   +1 more source

Identifying and characterising a plant GH1 β‐glucosidase that exhibits hydrolytic activity on N‐linked glucopyranoside

open access: yesFEBS Open Bio, EarlyView.
We report the first β‐glucosidase with demonstrated hydrolytic activity on an N‐linked glycopyranoside. The enzyme, native to maize, was biochemically characterised for this novel reaction, and structural modelling of the enzyme–substrate complex revealed several clues to the underlying reduced catalytic rate relative to its native O‐glycopyranoside ...
Hani Gharabli   +3 more
wiley   +1 more source

Circadian Regulation of Lipid Metabolism during Pregnancy

open access: yes
A cluster of metabolic changes occur to provide energy for fetal growth and development during pregnancy. There is a burgeoning body of research highlighting the pivotal role of circadian rhythms in the pathogenesis of metabolic disorders and lipid ...
Xinhang Meng   +3 more
core   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

open access: yesFEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti   +5 more
wiley   +1 more source

Mechanisms of Abnormal Lipid Metabolism in the Pathogenesis of Disease

open access: yes
Lipid metabolism is a critical component in preserving homeostasis and health, and lipids are significant chemicals involved in energy metabolism in living things.
Jinghua Zhou, Linna Xu, Qingqing Yang
core   +1 more source

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