In previous studies we showed that the wild-type histamine H 2 receptor stably expressed in
Chinese hamster ovary cells is constitutively active. Because constitutive activity of the H 2 …

Increasing knowledge of the genome sequences of several organisms and the development
of genome-wide, high-throughput screening techniques for gene expression are likely to …

Endogenous biological clocks allow organisms to anticipate daily environmental cycles [1–3].
The ability to achieve time-place associations is key to the survival and reproductive …

Pompe disease (acid α-glucosidase deficiency) is a lysosomal glycogen storage disorder
characterized in its most severe early-onset form by rapidly progressive muscle weakness and …

Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic
disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. …

Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental
disorders that mainly present with lower limb spasticity and muscle weakness due to …

Routine diagnostic screening of inborn errors of metabolism (IEM) is currently performed by
different targeted analyses of known biomarkers. This approach is time-consuming, targets a …

Pompe disease is an autosomal recessive lysosomal storage disorder characterized by
progressive muscle weakness. The disease is caused by mutations in the acid α-glucosidase (…

Metachromatic leukodystrophy is a lethal metabolic leukodystrophy, with emerging treatments
for early disease stages. Biomarkers to measure disease activity are required for clinical …

Adaptation of circadian rhythms to the environmental light–dark cycle is necessary for the
survival of organisms. This synchronization or entrainment is only caused by light (photic input) …