A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia.

is the first identified causative gene for amyotrophic lateral sclerosis. Recently, a novel syndrome, presenting with severe childhood-onset spastic tetraplegia and axial hypotonia caused by the homozygous truncating variants in the gene, is described. A 22-month-old boy was admitted with a loss of motor functions that began at the age of 9 months.

Human immunodeficiency virus type 1 impairs sumoylation.

During infection, the human immunodeficiency virus type 1 (HIV-1) manipulates host cell mechanisms to its advantage, thereby controlling its replication or latency, and evading immune responses. Sumoylation is an essential post-translational modification that controls vital cellular activities including proliferation, stemness, or anti-viral immunity. SUMO peptides oppose pathogen replication and mediate interferon-dependent anti-viral activities.

Sumoylation of Cas9 at lysine 848 regulates protein stability and DNA binding.

CRISPR/Cas9 is a popular genome editing technology. Although widely used, little is known about how this prokaryotic system behaves in humans. An unwanted consequence of eukaryotic Cas9 expression is off-target DNA binding leading to mutagenesis.