Sensorimotor and Neurocognitive Dysfunctions Parallel Early Telencephalic Neuropathology in Fucosidosis Mice.

Fucosidosis is a lysosomal storage disorder (LSD) caused by lysosomal α-L-fucosidase deficiency. Insufficient α-L-fucosidase activity triggers accumulation of undegraded, fucosylated glycoproteins and glycolipids in various tissues. The human phenotype is heterogeneous, but progressive motor and cognitive impairments represent the most characteristic symptoms.

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease.

Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates. Here, we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1) was disrupted by gene targeting. Homozygous knockout mice completely lack α-L-fucosidase activity in all tested organs leading to highly elevated amounts of the core-fucosylated glycoasparagine Fuc(α1,6)-GlcNAc(β1-N)-Asn and, to a lesser extent, other fucosylated glycoasparagines, which all were also partially excreted in urine.

Kaede for detection of protein oligomerization.

Photoconvertible fluorescent proteins such as Kaede are routinely used for tracking proteins, organelles, and whole cells. Kaede was the first identified photoconvertible fluorescent protein and has since become the most commonly used photoconvertible fluorescent protein in vertebrates. Kaede can be irreversibly converted from a green to a red fluorescent form upon UV/blue light irradiation and fluorescence of each form can be isolated separately by appropriate filter sets.

CoSMoS and TwinPaW: initial report on two new German twin studies.

After briefly recapitulating two earlier German twin studies (BiLSAT and GOSAT), we present two new German twin studies with a longitudinal perspective: CoSMoS and TwinPaW. The twin study on Cognitive ability, Self-reported Motivation and School performance (CoSMoS) aims to investigate predictors and influences of school performance in a genetically sensitive design, beginning with children in late elementary school. The Twin study on Personality And Wellbeing (TwinPaW) focuses on adult personality and its relation to physical health as well as health-related behavior in an adult sample of twins.

German Observational Study of Adult Twins (GOSAT): a multimodal investigation of personality, temperament and cognitive ability.

The German Observational Study of Adult Twins (GOSAT) is the largest population-based observational twin study in Germany to date. Embedded in the Bielefeld Longitudinal Study of Adult Twins (BiLSAT), it addresses the etiology of personality, temperament and cognitive ability in a sample of 300 monozygotic (MZ) and dizygotic (DZ) adult twin pairs between 18 and 70 years of age. A major aim of the GOSAT lies in the utilization of different modes of measurement, (i.