Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

Lysophosphatidylserine (lyso-PS) has emerged as yet another important signaling
lysophospholipid in mammals, and deregulation in its metabolism has been directly linked to …

Abstract In essence,“phospholipase A 2”(PLA 2) means a group of enzymes that release
fatty acids and lysophospholipids by hydrolyzing the sn-2 position of glycerophospholipids …

The past decade has witnessed a rapid evolution in rare disease (RD) research, fueled by
the availability of genome-wide (exome and genome) sequencing. In 2011, as this …

One of the first molecular events in neurodegenerative diseases, regardless of etiology, is
protein mislocalization. Protein mislocalization in neurons is often linked to proteostasis …

Palmitoylation, a lipid-based posttranslational protein modification, plays a crucial role in
regulating various aspects of neuronal function through altering protein membrane …

Maternal infections during pregnancy can increase the risk to offspring of develo** a
neurodevelopmental disorder. Given the global prevalence and severity of infection with …

Background Hereditary spastic paraplegia (HSP) encompasses several rare genetic
disorders characterized by progressive lower extremity spasticity and weakness caused by …

We examined the utility of clinical and research processes in the reanalysis of publicly‐
funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites …

Hereditary spastic paraplegias are a diverse group of degenerative disorders that are
clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic …