Аннотация
Developmental defects in neuronal positioning and synaptic connectivity
are commonly found in neurological diseases, and they are believed
to underlie many cognitive and affective disorders. Several mouse
mutants are currently available that model at least some aspects
of human developmental brain disorders. With the identification of
the genes mutated in these animals and the study of the cellular
basis of the phenotypes, we have taken significant strides toward
an understanding of the mechanisms controlling proper brain development
and the consequences of their dysfunction. In particular, mouse mutants
deficient in the Reelin gene have provided valuable insights into
the mechanisms of cortical development. Absence of Reelin expression
in the spontaneous mutant mouse reeler leads to extensive defects
in neuronal position and dendrite development. In humans, loss of
Reelin results in a type of lissencephaly with severe cortical and
cerebellar malformation. Genetic and biochemical studies using mouse
mutants suggest that the Lis1 protein may participate in the Reelin
signaling pathway controlling cortical development. Reduced levels
of Reelin are also present in postmortem brains of patients with
schizophrenia, suggesting a possible link with this cognitive disorder.
The regulation of the Reelin gene may thus provide insights into
the mechanisms of this disease.
- 1-alkyl-2-acetylglycerophosphocholine
- abnormalities,disease
- adhesion
- cortex,cerebral
- cortex:
- diseases,brain
- diseases:
- endopeptidases,serine
- endopeptidases:
- esterase,animal,animals,brain
- expression,humans,messenger,mice,microtubule-associated
- genetics
- genetics,cell
- genetics,gene
- genetics,nerve
- genetics,neurologic
- genetics,neuronal,neuronal:
- genetics,rna,rats,serine
- matrix
- models,extracellular
- molecules,cerebral
- mutants,neurologic
- mutants:
- proteins,extracellular
- proteins,microtubule-associated
- proteins,nerve
- proteins:
- tissue
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