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Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafnes

Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all

T-1-family conotoxins belong to the T-superfamily and are composed of 10-17 amino acids. They share a common cysteine framework and disulfide connectivity and exhibit unusual posttranslational modifications, such as tryptophan bromination, glutamic acid carboxylation, and threonine glycosylation. We have isolated and characterized a novel peptide, Mo1274, containing 11 amino acids, that shows the

Sensor degradation poses a significant challenge in autonomous driving. During heavy rainfall, interference from raindrops can adversely affect the quality of LiDAR point clouds, resulting in, for instance, inaccurate point measurements. This, in turn, can potentially lead to safety concerns if autonomous driving systems are not weather-aware, i.e., if they are unable to discern such changes. In t

Zeaxanthin, a carotenoid in the xanthophyll cycle, has been suggested to play a role in the protection against photodestruction. We have studied the importance of the parameters involved in zeaxanthin formation by comparing spinach plants grown in low light (100 to 250 mol m-2 s-1) to plants transferred to high light (950 mol m-2 s-1). Different parameters were followed for a total of 11 days. Our

Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes the degradation of the hepatic low-density lipoprotein receptor (LDL-R) and is therefore a prominent therapeutic target for reducing LDL-cholesterol. The C-terminal domain of PCSK9 is unlikely to be involved in a direct extracellular interaction with the LDL-R. We probed the importance of the C-terminus for the degradation of the LDL-R

Recent studies suggest that service definition is an ongoing process, with service characteristics being temporarily stabilised and destabilised through buyer–service provider interactions. However, little is still known about how and, in particular, why services are (re)defined during the sourcing process, e.g., in terms of their intended outputs, how they are performed (processes), the inputs re

Peak oil has acquired prominence in the political lexicon of an increasing number of critical and radical perspectives during the ongoing ecological and economic crisis. By examining examples within academia as well as initiatives such as the Degrowth Movement and the Transition Network, this paper documents how a series of red-green discourses and movements mobilise the narrative of peak oil as a