Oligodendrocytes, the myelin-forming cells of the central nervous system (CNS), and
astrocytes constitute macroglia. This review deals with the recent progress related to the …

DNA double-strand breaks are normal consequences of cell division and differentiation and
must be repaired faithfully to maintain genome stability. Two mechanistically distinct …

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 …

Cancer progression is often associated with the accumulation of gross chromosomal
rearrangements (GCRs), such as translocations, deletion of a chromosome arm, interstitial …

Galactocerebrosidase (GALC) is a lysosomal β‐galactosidase responsible for the hydrolysis
of the galactosyl moiety from several galactolipids, including galactosylceramide and …

Krabbe disease or globoid cell leukodystrophy is a disorder involving the white matter of the
peripheral and central nervous systems. Mutations in the gene for the lysosomal enzyme …

In a field where even experts may find that years have elapsed since they last encountered a
child with a given disorder, it is essential for the clinician to have a comprehensive source of …

X-linked dominant hypophosphatemic rickets (HYP) is the most common form of hereditary
rickets. Recently we have cloned the PEX gene and shown it to be mutated and deleted in …

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

The characterization of the underlying GALC gene lesions was performed in 30 unrelated
patients affected by Krabbe disease, an autosomal recessive leukodystrophy caused by the …