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Regulation of endoplasmic reticulum turnover by selective autophagy
TLDR
Severe disruption of Fam134b in mice causes expansion of the ER, inhibits ER turnover, sensitizes cells to stress-induced apoptotic cell death and leads to degeneration of sensory neurons, so selective ER-phagy via FAM134 proteins is indispensable for mammalian cell homeostasis and controls ER morphology and turnover in mice and humans.
Expression of the KCl cotransporter KCC2 parallels neuronal maturation and the emergence of low intracellular chloride
TLDR
KCC2 expression paralleled neuronal differentiation and preceded the decline of the GABA reversal potential in spinal cord motoneurons and hippocampal pyramidal cells, indicating that the adult inhibitory response to GABA was established earlier in the spinal cord than in the hippocampus.
Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4
TLDR
It is shown that mice lacking the K+/Cl- (K-Cl) co-transporter Kcc4 (coded for by Slc12a7) are deaf because their hair cells degenerate rapidly after the beginning of hearing.
Loss of K‐Cl co‐transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold
TLDR
The present mouse model has revealed important cellular and systemic functions of KCC3 and is highly relevant for Anderman syndrome.
Leukoencephalopathy upon Disruption of the Chloride Channel ClC-2
TLDR
It is shown that the white matter of the brain and spinal cord of ClC-2 knock-out mice developed widespread vacuolation that progressed with age and was similar to that of blindness reported in previously reported blindness.
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
TLDR
The studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells, which is in marked contrast to the mild visual deficiency in individuals with fundus albipunctatus caused by mutations in RDH5, encoding another retinal dehydrogenase.
GABAergic regulation of cerebellar NG2-cell development is altered in perinatal white matter injury
TLDR
The results indicate that GABAergic signaling regulates NG2 cell differentiation and proliferation in vivo, and suggest that its perturbation is a key factor in DWMI.
Maternal Oxytocin Triggers a Transient Inhibitory Switch in GABA Signaling in the Fetal Brain During Delivery
TLDR
It is found that, shortly before delivery, there is a transient reduction in the intracellular chloride concentration and an excitatory-to-inhibitory switch of GABA actions, which are triggered by oxytocin, an essential maternal hormone for labor.
Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability
TLDR
The data indicate that Slc4a10 is involved in the control of neuronal pH and excitability and may contribute to the secretion of cerebrospinal fluid, and is a promising pharmacological target for the therapy of epilepsy or elevated intracranial pressure.
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