Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

Motor neuron disease due to neuropathy target esterase gene mutation: clinical features of the index families.

Recently, we reported that mutations in the neuropathy target esterase (NTE) gene cause autosomal recessive motor neuron disease (NTE-MND). We describe clinical, neurophysiologic, and neuroimaging features of affected subjects in the index families. NTE-MND subjects exhibited progressive lower extremity spastic weakness that began in childhood and was later associated with atrophy of distal leg...

Neuropathy Target Esterase Biosensor

Neuropathy target esterase.

Neuropathy target esterase (NTE) is an integral membrane protein present in all neurons and in some non-neural-cell types of vertebrates. Recent data indicate that NTE is involved in a cell-signalling pathway controlling interactions between neurons and accessory glial cells in the developing nervous system. NTE has serine esterase activity and efficiently catalyses the hydrolysis of phenyl val...

Genetic Mutations that Cause Coronary Artery Disease

Axonal degeneration and neuropathy target esterase.

This brief review summarizes recent observations which suggest a possible mechanism for organophosphate-induced delayed neuropathy (OPIDN). Neuropathy target esterase (NTE) has been shown to deacylate endoplasmic reticulum (ER) membrane phosphatidylcholine (PtdCho). Raised levels of PtdCho are present in the brains of Swiss cheese/NTE mutant Drosophila together with abnormal membrane structures...