Axonal and periaxonal swelling precede peripheral neurodegeneration in KCC3 knockout mice
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چکیده
منابع مشابه
Late onset distal axonal swelling in YFP-H transgenic mice.
Axonal swellings, or spheroids, are a feature of central nervous system (CNS) axon degeneration during normal aging and in many disorders. The direct cause and mechanism are unknown. The use of transgenic mouse line YFP-H, which expresses yellow-fluorescent protein (YFP) in a subset of neurons, greatly facilitates longitudinal imaging and live imaging of axonal swellings, but it has not been es...
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The transcription regulator, neuron-restrictive silencer factor (NRSF), also known as repressor element-1 silencing transcription factor (REST), plays an important role in neurogenesis and various neuronal diseases such as ischaemia, epilepsy, and Huntington's disease. In these disease processes, neuronal loss is associated with abnormal expression and/or localization of NRSF. Previous studies ...
متن کاملPeripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.
Using exome sequencing, we identified a de novo mutation (c.2971A>G; T991A) in SLC12A6, the gene encoding the K(+)-Cl(-) cotransporter KCC3, in a patient with an early-onset, progressive, and severe peripheral neuropathy primarily affecting motor neurons. Normally, the WNK kinase-dependent phosphorylation of T(991) tonically inhibits KCC3; however, cell swelling triggers Thr(991) dephosphorylat...
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Leigh syndrome associated with cytochrome c oxidase (COX) deficiency is a mitochondrial disorder usually caused by mutations of SURF1, a gene encoding a putative COX assembly factor. We present here a Surf1-/- recombinant mouse obtained by inserting a loxP sequence in the open reading frame of the gene. The frequency of -/-, +/+ and +/- genotypes in newborn mice followed a mendelian distributio...
متن کاملAxonal regeneration after optic nerve crush in Nogo-A/B/C knockout mice
PURPOSE The axonal regeneration of retinal ganglion cells (RGCs) after optic nerve (ON) crush was investigated both in vivo and in vitro on Nogo-A/B/C knockout mice. METHODS The study used 20 Nogo-A/B/C knockout mice in the experimental group, and 20 C57BL/6 mice in the control group. Partial ON injury was induced by using a specially designed ON clip to pinch the ON 1 mm behind the mouse eye...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2007
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2007.06.014