University of Erlangen-Nuremberg

About: University of Erlangen-Nuremberg is a education organization based out in Erlangen, Bayern, Germany. It is known for research contribution in the topics: Population & Immune system. The organization has 42405 authors who have published 85600 publications receiving 2663922 citations.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Abstract: N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 subunits each form highly Ca²(+)-permeable cation channels which are blocked by extracellular Mg²(+) in a voltage-dependent manner. Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or epilepsy. Sequencing of GRIN2B in 468 individuals with mental retardation revealed four de novo mutations: a frameshift, a missense and two splice-site mutations. In another cohort of 127 individuals with idiopathic epilepsy and/or mental retardation, we discovered a GRIN2A nonsense mutation in a three-generation family. In a girl with early-onset epileptic encephalopathy, we identified the de novo GRIN2A mutation c.1845C>A predicting the amino acid substitution p.N615K. Analysis of NR1-NR2A(N615K) (NR2A subunit with the p.N615K alteration) receptor currents revealed a loss of the Mg²(+) block and a decrease in Ca²(+) permeability. Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected.

Hot Subdwarf Stars

Abstract: Hot subdwarf stars (sdBs, sdOs) are core helium-burning stars at the blue end of the horizontal branch or have evolved even beyond that stage. They are found in all Galactic stellar populations and are sufficiently common to account for the UV-upturn of early-type galaxies. About half of the sdBs reside in close binaries; companions are white dwarfs or low-mass main-sequence stars. Binary population-synthesis models explain naturally the actual sdB binary fractions of field and globular cluster stars as well as of He-sdOs if white-dwarf mergers are considered. Hot helium flashes explain the chemical composition of He-sdOs. Asteroseismology of a dozen pulsating sdB stars allowed determination of their masses and detection of a planet to V391 Peg. The discoveries of an sdO star unbound to the Galaxy, potential SN Ia progenitors and probably a hidden population of neutron stars or black hole companions have great impact on astrophysics at large.