The proband, a 41 - year - old woman, and her daughter present a severe
axonal form of Charcot - Marie - Tooth (CMT) disease.
Not exact matches
First, looking at a study of 185 cases of childhood epilepsy, Wittkowski's team found that mutations in genes that control
axonal guidance and calcium signaling — both of which are important early in the developing brain when neurons are
forming the appropriate connections — led to increased chances of having the disorder.
Instead, RIPK1 appears to fuel
axonal damage across various
forms of inherited and acquired
forms of ALS.
Looking closer at the transplant recipients, Levin and Blackiston noticed differences in the ways the eyes
formed axonal connections.
The findings suggest that RIPK1 may be involved in a range of other neurodegenerative diseases marked by
axonal damage, including multiple sclerosis, certain
forms of spinal muscular atrophy and even Alzheimer's disease.
Here we identify protein kinase N1 (PKN1) as a novel key player in fine - tuning the balance between
axonal outgrowth and presynaptic differentiation in the parallel fiber —
forming (PF -
forming) cerebellar granule cells (Cgcs).
An intriguing clue to this selectivity is provided by Setola et al., who identify a truncated
form of SMN1 that arises from an alternative spliced SMN1 transcript that is preferentially expressed in the
axonal projections of developing motor neurons.
Myelin
forms an insulating layer around these axons, the purpose of which is to allow electrical impulses to transmit efficiently and rapidly along the
axonal pathways.