Batten disease is a childhood neurodegenerative disorder caused by defects in the lysosomal membrane protein CLN3. To probe how defective CLN3 function causes disease, Padilla-López et al. investigate the role of the yeast homologue, Btn1p, in intracellular lipid transport. They find that BTN1 deletion disrupts trafficking of essential lipids from the endoplasmic reticulum to mitochondria and vacuoles (the yeast equivalents of mammalian lysosomes), and also impairs the Kennedy pathway, which synthesises essential lipids. Thus, defects in BTN1 – and by extension its human homologue CLN3 – might disrupt intracellular lipid transport, causing pleiotropic effects on cellular function that contribute to the pathology of Batten disease. Page 191
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IN THIS ISSUE| 01 March 2012
Batten disease: lipid transport goes awry
Online Issn: 1754-8411
Print Issn: 1754-8403
Written by editorial staff. © 2012. Published by The Company of Biologists Ltd.
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Dis Model Mech (2012) 5 (2): 147.
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