Highlights•Canavan disease (CD) is an inherited leukodystrophy resulting from mutations in
the ASPA gene.•ASPA deficiency results in severe dysmyelination and a failure of normal …

Wnt signaling is required for neurogenesis, the fate of neural progenitors, the formation of
neuronal circuits during development, neuron positioning and polarization, axon and …

Unstable proteins are prone to form non-native interactions with other proteins and thereby
may become toxic. To mitigate this, destabilized proteins are targeted by the protein quality …

The human high-affinity sodium–dicarboxylate cotransporter (NaDC3) imports various
substrates into the cell as tricarboxylate acid cycle intermediates, lipid biosynthesis …

The brain contains high concentrations of the amino acid N-acetyl-l-aspartate (NAA) and its'
glutamate adduct N-acetyl-l-aspartylglutamate (NAAG), both synthesized primarily by and …

The inherited pediatric leukodystrophy Canavan disease is characterized by dysmyelination
and severe spongiform degeneration, and is currently refractory to treatment. A definitive …

Canavan disease is an autosomal recessive and lethal neurological disorder, characterized
by the spongy degeneration of the white matter in the brain. The disease is caused by a …

Highlights•Dentate nuclei are affected in leukodystrophies, metabolic, toxic,
neurodegenerative, inflammatory and infectious diseases.•A number of these diseases are …

Canavan disease (CD) is a rare leukodystrophy characterized by diffuse spongiform white
matter degeneration, dysmyelination and intramyelinic oedema with consequent impairment …

Canavan disease (CD) is an ultra-rare autosomal recessive leukodystrophy caused by loss-
of-function mutations in ASPA, which encodes aspartoacylase (ASPA), leading to …