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Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder characterized by bilateral calcifications in the basal ganglia and other brain regions. The genetic basis of this disorder remains unknown in a significant portion of familial cases. Here, we reported a recessive causal gene, MYORG, for PFBC. Compound heterozygous or homozygous mutations of MYORG co-segregated completely...
Glial cell line–derived neurotrophic factor (GDNF) is a distant member of the TGFβ protein family that is essential for neuronal survival and renal morphogenesis. We show that mice who are deficient in the glycosyl-phosphatidyl inositol (GPI) -linked protein GFRα1 (GDNFRα) display deficits in the kidneys, the enteric nervous system, and spinal motor and sensory neurons that are strikingly similar...
A novel neurotrophic factor named Persephin that is ∼40% identical to glial cell line–derived neurotrophic factor (GDNF) and neurturin (NTN) has been identified using degenerate PCR. Persephin, like GDNF and NTN, promotes the survival of ventral midbrain dopaminergic neurons in culture and prevents their degeneration after 6-hydroxydopamine treatment in vivo. Persephin also supports the survival of...
To determine whether diffusible guidance cues direct retinal axon growth and divergence at the optic chiasm, we cocultured mouse retinal and chiasm explants in collagen gels. The chiasm reduced retinal neurite lengths and numbers, but did not affect commissural or pontine neurite growth. This reduction in growth was equal for all retinal quadrants and occurred without reorienting the direction of...
In mouse, retinal axon divergence takes place within a cellular specialization localized at the midline of the optic chiasm. To test whether the cells in this locus present cues for differential retinal axon growth, retinal explants were cocultured with cells dissociated from the chiasmatic midline, both taken from day 14-15 embryos, during the principal period of retinal axon divergence. Compared...
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