Gepubliceerd in:

01-02-2013

The X-ALD Mouse 2.0

Auteurs: Stephan Kemp, JooYeon Engelen-Lee, Inge M.E. Dijkstra, Sandra van de Akker, Marc Engelen, Ronald J.A. Wanders

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene that results in elevated very long-chain fatty acids (VLCFA) levels in tissues. X-ALD can manifest as a rapidly progressive and fatal cerebral inflammatory demyelinating disease (cerebral ALD) or as a slowly progressive noninflammatory distal axonopathy (AMN). Biochemical analysis suggests that VLCFA play an important role in the onset of cerebral ALD: myelin from cerebral ALD patients contains more VLCFA compared to myelin from AMN patients. Unfortunately, this cannot be proven in the X-ALD knockout (Abcd1-/-) mouse develop AMN at 20 months of age. Experimental evidence indicates …

vorige artikel Low functionality of plasma-derived MBL upon substitution in MBL-deficient patients possibly explained by interaction with C1-inh

volgende artikel Categorizing B-cell defects using an in-vitro B-cell differentiation assay

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