Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

SIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP (also called GRP78), which is a key regulator of the main functions of the endoplasmic reticulum. We found nine distinct mutations that would disrupt the SIL1 protein in individuals with Marinesco-Sj?gren syndrome, an autosomal recessive cerebellar ataxia complicated by cataracts, developmental delay and myopathy. Identification of SIL1 mutations implicates Marinesco-Sj?gren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders.     

Die Bedeutung von Plasmafaktoren für die isolierte umströmte Kaninchennetzhaut

Summary Theb-wave in the electroretinogram of the isolated retina of the rabbit can be completely preserved by addition of plasma to the perfusing fluid. The plasma factor is a non-protein (heat-stable, molecular size <24Å), and was found in the plasma of rabbit, man, and horse.     

The myeloid cells of the central nervous system parenchyma

A microglial cell is both a glial cell of the central nervous system and a mononuclear phagocyte, which belongs to the haematopoietic system and is involved in inflammatory and immune responses. As such, microglia face a challenging task. The neurons of the central nervous system cannot divide and be replenished, and therefore need to be protected against pathogens, which is a key role of the immune system, but without collateral damage. In addition, after physical injury, neural cells need restorative support, which is provided by inflammatory responses. Excessive or chronic inflammatory responses can, however, be harmful. How microglia balance these demands, and how their behaviour can be modified to ameliorate disorders of the central nervous system, is becoming clear.     

Field-tuned quantum effects in a triangular-lattice Ising magnet

We report thermodynamic and neutron scattering measurements of the triangular-lattice quantum Ising magnet TmMgGaO4 in longitudinal magnetic fields.Our experime...     

Der Nachweis des Barbiturateffektes an der isolierten Warmblüternetzhaut

Summary Barbiturates cause an increase of the ERG amplitude in the isolated perfused retina of the rabbit as well as in the eye of the intact animal. Therefore, this effect cannot be transmitted by centrifugal fibres in the optic nerve.     

Effect of alkoxyglycerols on the frequency of injuries following radiation therapy

Résumé Les complications de traitement radiothérapique sont moins nombreuses pour les groupes I et II qui ont reçu des alcoxyglycérols que pour le groupe de contrôle III qui n'a été traité que par la radiothérapie. Le nombre de complications a diminué de plus de 50% pour le groupe I qui a reçu les alcoxyglycérols avant, pendant et après le traitement aux rayons.