Direct neuronal reprogramming, by which a neuron is formed via direct conversion from a
somatic cell without going through a pluripotent intermediate stage, allows for the possibility …

Due to the low number of patients, rare genetic diseases are a special challenge for the
development of therapies, especially for diseases that result from numerous, patient‐specific …

The mechanoreceptive sensory hair cells in the inner ear are selectively vulnerable to
numerous genetic and environmental insults. In mammals, hair cells lack regenerative …

The development of safe and effective treatments for age‐associated neurodegenerative
disorders is an on‐going challenge faced by the scientific field. Key to the development of …

Krabbe disease is caused by a deficiency of the lysosomal galactosylceramidase (GALC)
enzyme, which results in the accumulation of galactosylceramide (GalCer) and psychosine …

Galactocerebrosidase (GALC) hydrolyses galactose residues from various substrates,
including galactosylceramide, psychosine (galactosylsphingosine), and lactosylceramide. Its …

Krabbe disease is a rare, childhood lysosomal storage disorder caused by a deficiency of
galactosylceramide beta-galactosidase (GALC). The major effect of GALC deficiency is the …

Background: Krabbe disease is an autosomal recessive demyelinating disorder resulting
from deficiency of the lysosomal enzyme galactocerebrosidase. While blindness is often …

Galactosyl-ceramidase (GALC) is a ubiquitous lysosomal enzyme crucial for the correct
myelination of the mammalian nervous system during early postnatal development …

Background The most frequent and common form of Krabbe disease (KD) is early‐onset KD
in infants, and late‐onset KD has been reported to be a rare disease. In the present study …