The functionality of DNA, RNA and proteins is altered dynamically in response to
physiological and pathological cues, partly achieved by their modification. While the …

ADP-ribosylation (ADPr) is a widespread post-translational modification (PTM) which
encompasses all kingdoms of life. It is employed by bacteria and viruses in their war against …

ADP ribosylation is a reversible posttranslational modification mediated by poly (ADP-
ribose) transferases (eg, PARP1) and (ADP-ribosyl) hydrolases (eg, ARH3 and PARG) …

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
(CONDSIAS) is an extremely rare, autosomal recessive neurodegenerative disorder. It is …

ADPRHL2 gene mutations have been demonstrated as the cause of stress-induced
childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an …

Abstract Background Mutations in NARS2 (MIM: 612803) are associated with combined
oxidative phosphorylation deficiency 24 (COXPD24; MIM: 616239) that is a rare …

The posttranslational modification of proteins with poly (ADP-ribose) was discovered in the
sixties. Since then, we have learned that the enzymes involved, the so-called poly (ADP …

The ARH family of ADP-ribose-acceptor hydrolases consists of three 39-kDa members
(ARH1-3), with similarities in amino acid sequence. ARH1 was identified based on its ability …

Major facilitator superfamily domain-containing 2A (MFSD2A) is required for brain uptake of
Docosahexaenoic acid and Lysophosphatidylcholine, both are essential for the normal …

Figure 1: MRI spine and brain reveals diffuse ill‑defined T2 hyperintense signal abnormality
in the thoracic cord on T2 weighted sagittal (a) and axial (b) images. Diffuse subtle …