BACKGROUND Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and triglycerides in lysosomes. Fatality usually occurs within the first year of life. While an enzyme replacement therapy has recently become available, there is currently no s...

We have detected longitudinal magnetic fields between 2 and 4 kG in three (WD 0446−790, WD 1105−048, WD 2359−434) out of a sample of 12 normal DA white dwarfs by using optical spectropolarimetry done with the VLT Antu 8 m telescope equipped with FORS1. With the exception of 40 Eri B (4 kG) these are the first positive detections of magnetic fields in white dwarfs below 30 kG. Although suspected...

Wilson’s disease (WD), characterized by hepatic and neurological abnormity, is a rare autosomal recessive genetic disorder of copper metabolism. It was first described as a syndrome by Wilson in 1912 [1]. Its morbidity is 1/30 000 1/100 000 on human individuals. Nowadays, the early diagnosis of WD still puzzles clinical doctors and WD patients are often unable to obtain timely and effective tre...

The autonomous pathway functions to promote flowering in Arabidopsis by limiting the accumulation of the floral repressor FLOWERING LOCUS C (FLC). Within this pathway FCA is a plant-specific, nuclear RNA-binding protein, which interacts with FY, a highly conserved eukaryotic polyadenylation factor. FCA and FY function to control polyadenylation site choice during processing of the FCA transcrip...

BACKGROUND AND AIMS Survival of many herbaceous species in Mediterranean habitats during the dry, hot summer depends on the induction of summer dormancy by changes in environmental conditions during the transition between the winter (growth) season to the summer (resting) season, i.e. longer days, increasing temperature and drought. In Poa bulbosa, a perennial geophytic grass, summer dormancy i...

Binary white dwarf (WD) coalescence driven by gravitational waves or collisions in triple systems are potential progenitors of Type Ia supernovae (SNe Ia). We combine the distribution of 56Ni inferred from observations of SNe Ia with the results of both sub-Chandrasekhar detonation models and direct collision calculations to estimate what mass WDs should be exploding in each scenario to reprodu...

BACKGROUND In patients with Wilson's disease (WD), an autosomal recessive disorder, toxic accumulation of copper results in fatal liver disease and irreversible neuronal degeneration. ATP7B, the gene mutated in WD, contains 21 exons and encodes a copper transporting ATPase. A novel disease causing mutation (4193delC) in exon 21 of the ATP7B gene has previously been detected by heteroduplex anal...

INTRODUCTION Both primary biliary cirrhosis (PBC) and Wilson's disease (WD) can cause copper retention in the liver, which is an important factor for liver cellular damage. Copper chelation may preserve liver cell function. It is challenging to distinguish WD from copper accumulation in patients with PBC. There have been few case reports of PBC co-occurrence with WD. CASE PRESENTATION Here we...

Atherosclerosis is characterized by vascular obstruction from the deposits of plaque, resulting in reduced bloo flow. Here, we investigate that dynamic changes of bodyweight, liver weight, lipid levels, atherosclerotic lesion and liver steatosis, during the progression of atherosclerosis in ApoE KO mice. Male ApoE KO mice were fed a high fat diet (western type diet, WD) for 16 weeks. BRBHT; Bok...