Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …

Alzheimer's disease (AD) is the most common cause of dementia, and its prevalence will
increase significantly in the coming decades. Although important progress has been made …

Long-read sequencing (LRS) promises to improve the characterization of structural variants
(SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs …

Krabbe disease or globoid cell leukodystrophy is one of the classic genetic lysosomal
storage diseases with autosomal recessive inheritance that affects both central and …

Globoid cell leukodystrophy (GLD; Krabbe disease) is a progressive, incurable
neurodegenerative disease caused by deficient activity of the hydrolytic enzyme …

Purpose: Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency.
Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and …

Misfolding of proteins is the basis of several proteinopathies. Chemical and pharmacological
chaperones are small molecules capable of inducing the correct conformation of proteins …

Protein misfolding induced by missense mutations is the source of hundreds of
conformational diseases. The cell quality control may eliminate nascent misfolded proteins …

Lysosomal storage disorders (LSDs) result from an enzyme deficiency within lysosomes.
The systemic administration of the missing enzyme, however, is not effective in the case of …

Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in
galactocerebrosidase. The only effective treatment is hematopoietic stem cell transplantation …