A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline

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• 作者：Samantha J. Hindle^a ; ¹ ; Sarita Hebbar^b ; ² ; Dominik Schwudke^b ; ³ ; Christopher J.H. Elliott^a ; Sean T. Sweeney^a ; ^{sean.sweeney@york.ac.uk}
• 关键词：PSAP ; prosaposin ; ERG ; electroretinograms ; LSD ; lysosomal storage disease ; NPC ; Niemann-Pick type C ; GFP ; green fluorescent protein ; RT-PCR ; reverse transcription PCR ; TEM ; transmission electron microscopy ; MVB ; multivesicular body ; MLB ; multilamellar body ; HSAN1 ; hereditary sensory and autonomic neuropathy type 1
• 刊名：Neurobiology of Disease
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：98
• 期：Complete
• 页码：77-87
• 全文大小：1848 K
• 卷排序：98

文摘

Drosophila model of PSD recapitulates neurodegenerative phenotype of human PSD. Preferential degeneration of sensory regions correlates with loss of sensory function. Sphingosine levels rise with age with an imbalance in sphingosine/ceramide ratios. Genetic interaction with the Na +/Ca + exchanger points to a calcium regulation deficit.