Reference Report

Reference
Citation	Kuronen, M., Talvitie, M., Lehesjoki, A.E., Myllykangas, L. (2009). Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis. Neurobiol. Disease 36(3): 488--493. (Export to RIS)
FlyBase ID	FBrf0209200
Publication Type	Research paper
PubMed ID	19761846
PubMed Abstract	Neuronal ceroid lipofuscinoses (NCLs) are pediatric, neurodegenerative, lysosomal storage disorders. Mutations in cathepsin D result in the most severe, congenital form of NCLs. We have previously generated a cathepsin D deficient Drosophila model, which exhibits the key features of NCLs: progressive intracellular accumulation of autofluorescent storage material and modest neurodegeneration in the brain areas related to visual functions. Here we extend the phenotypic characterization of cathepsin D deficient Drosophila and report that modest degenerative changes are also present in their retinae. Furthermore, by utilizing this phenotype, we examined the possible effect of 17 candidate modifiers, selected based on the results from other cathepsin D deficiency models. We found enhancers of this phenotype that support the involvement of endocytosis-, lipid metabolism- and oxidation-related factors in the cathepsin D deficiency induced degeneration. Our results warrant further investigation of these mechanisms in the pathogenesis of cathepsin D deficiency.
DOI	10.1016/j.nbd.2009.09.001
Related Publication(s)
Recent Updates
Description	What does this section display? This section contains items that were added to this record for each release. It currently only tracks new links between this FlyBase report and other FlyBase data classes (e.g. genes, references, stocks) or controlled vocabulary terms (e.g. GO, anatomy terms). What does this section not display? This section does not currently display links that were removed or gene model changes.
Update Feed	Click the icon below to subscribe to this FlyBase record and receive updates automatically through your feed reader.
FB2013_03
FB2013_02
All updates	Click here to see a list of all updates to this record from FB2010_08 and on.
Associated Information
Comments
Associated Files
Other Information
Secondary IDs
Language of Publication	English
Additional Languages of Abstract
Also Published As
Parent Publication
Publication Type	Journal
Abbreviation	Neurobiol. Disease
Title	Neurobiology of Disease
Publication Year	1994-
ISBN/ISSN	0969-9961
Data from Reference
Alleles (19)
	cathD¹ cathD^Scer\UAS.cKa CDase^Scer\UAS.cAa CG17841^PL94 CtsB1^PG148 CtsB1^Scer\UAS.cKa Hmgcr^{Scer\UAS.cvDa} Hsc70-3^G0102 Hsc70-4^L3929 Sap-r^e01294 Scer\GAL4^elav-C155 shi¹ SNF4Aγ^loe SNF4Aγ^{loeI.Scer\UAS} Sodⁿ¹ sws^d07605 Tor^TED.Scer\UAS Tor^{WT.Scer\UAS.T:Zzzz\FLAG} Trxr-1^G0481
Constructs (7)
	P{UAS-cathD.K} P{UAS-CDase.A} P{UAS-CG10992.K} P{UAS-Hmgcr.vD} P{UAS-loeI} P{UAS-Tor.TED} P{UAS-Tor.WT}
Genes (16)
	cathD CDase CG17841 CtsB1 Hmgcr Hsc70-3 Hsc70-4 Sap-r Scer\GAL4 schlank shi SNF4Aγ Sod sws Tor Trxr-1
Insertions (7)
	P{GawB}CtsB1^PG148 P{GawB}elav^C155 P{lacW}CG17841^PL94 P{lacW}Hsc70-3^G0102 P{lacW}Hsc70-4^L3929 P{XP}sws^d07605 PBac{RB}Sap-r^e01294
Natural transposons (1)
	P-element