Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

Abstract Zinc finger protein 335 (ZNF335) plays a crucial role in the methylation and,
consequently, regulates the expression of a specific set of genes. Variants of the ZNF335 …

BACKGROUND AND PURPOSE: The “ears of the lynx” MR imaging sign has been
described in case reports of hereditary spastic paraplegia with a thin corpus callosum …

Patients lacking PYCR2, a mitochondrial enzyme that synthesizes proline, display postnatal
degenerative microcephaly with hypomyelination. Here we report the crystal structure of the …

Hypomyelinating leukodystrophies (HLDs) represent a group of congenital rare diseases for
which the responsible genes have been identified in recent studies. In this review, we briefly …

Abstract Pyrroline-5-carboxylate reductase (PYCR in humans) catalyzes the final step of l-
proline biosynthesis by catalyzing the reduction of L-Δ 1-pyrroline-5-carboxylate (L-P5C) to l …

The final step in proline biosynthesis is catalyzed by three pyrroline-5-carboxylate
reductases, PYCR1, PYCR2, and PYCR3, which convert pyrroline-5-carboxylate (P5C) to …

Hypomyelinating leukodystrophy 10 (HLD10) is an autosomal recessive disease related to
myelin sheaths in the central nervous system (CNS). In the CNS, myelin sheaths are derived …

E4B belongs to the U-box E3 ligase family and functions as either an E3 or an E4 enzyme in
protein ubiquitination. Transformer2A (TRA2A) and Pyrroline-5-carboxylate reductase 2 …

PYCR2 pathogenic variants lead to an autosomal recessive hypomyelinating
leukodystrophy 10 (HLD10), characterized by global developmental delay, microcephaly …