Methylmalonic acid, a malonic acid derivative, is a vital intermediate in the metabolism of fat and proteins and plays a key role in energy metabolism. Elevated methylmalonic acid levels can be caused by an inborn error of metabolism leading to methylmalonic aciduria or indicate early vitamin B<sub>12</sub> deficiency. This internal standard is suitable for quantitation of methylmalonic acid levels by LC/MS or GC/MS in newborn screening and clinical testing applications to test for methylmalonic acidemia and diagnose vitamin B<sub>12</sub> deficiency.
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Spinal Muscular Atrophy (SMA) is caused by diminished Survival of Motor Neuron (SMN) protein, leading to neuromuscular junction (NMJ) dysfunction and spinal motor neuron (MN) loss. Here, we report that reduced SMN function impacts the action of a pertinent microRNA
Frontiers in aging neuroscience, 9, 24-24 (2017-02-24)
The development of the nervous system involves the overproduction of synapses but connectivity is refined by Hebbian activity-dependent axonal competition. The newborn skeletal muscle fibers are polyinnervated but, at the end of the competition process, some days later, become innervated
Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal genetic disorder that causes systemic accelerated aging in children. Thanks to the pluripotency and self-renewal properties of induced pluripotent stem cells (iPSC), HGPS iPSC-based modeling opens up the possibility of access to
The development of the nervous system involves an initially exuberant production of neurons that make an excessive number of synaptic contacts. The initial overproduction of synapses promotes connectivity. Hebbian competition between axons with different activities (the least active are punished)
While cholinergic neuromodulation is important for locomotor circuit operation, the specific neuronal mechanisms that acetylcholine employs to regulate and fine-tune the speed of locomotion are largely unknown. Here, we show that cholinergic interneurons are present in the zebrafish spinal cord
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