Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells.

Autosomal dominant optic atrophy (ADOA) is an inherited optic neuropathy most frequently associated with mutations. Most variants result in haploinsufficiency, and patient cells express roughly half of the normal levels of OPA1 protein. OPA1 is a mitochondrial GTPase that is essential for normal mitochondrial function.

Targeted Augmentation of Nuclear Gene Output (TANGO) of Scn1a rescues parvalbumin interneuron excitability and reduces seizures in a mouse model of Dravet Syndrome.

Dravet Syndrome (DS) is a severe developmental and epileptic encephalopathy typically caused by loss-of-function de novo mutations in the SCN1A gene which encodes the voltage-gated sodium channel isoform Na1.1. Decreased Na1.

Relative Quantification of Na1.1 Protein in Mouse Brains Using a Meso Scale Discovery-Electrochemiluminescence (MSD-ECL) Method.

Densitometric analysis is often used to quantify Na1.1 protein on immunoblots, although the sensitivity and dilution linearity of the method are usually poor. Here we present a protocol for quantification of Na1.

Pediatric Femoral Shaft Fracture: An Age-Based Treatment Algorithm.

Purpose: Fractures of the femoral shaft in children are common. The rates of bone growth and remodeling in children vary according to their ages, which affect their respective management.

Methods: This paper evaluates the incidence and patterns of pediatric femoral shaft fracture and the current concepts of treatments available.