Reference Report

Reference
Citation	Chakrabarti, L., Zahra, R., Jackson, S.M., Kazemi-Esfarjani, P., Sopher, B.L., Mason, A.G., Toneff, T., Ryu, S., Shaffer, S., Kansy, J.W., Eng, J., Merrihew, G., Maccoss, M.J., Murphy, A., Goodlett, D.R., Hook, V., Bennett, C.L., Pallanck, L.J., La Spada, A.R. (2010). Mitochondrial Dysfunction in NnaD Mutant Flies and Purkinje Cell Degeneration Mice Reveals a Role for Nna Proteins in Neuronal Bioenergetics. Neuron 66(6): 835--847. (Export to RIS)
FlyBase ID	FBrf0211249
Publication Type	Research paper
PubMed ID	20620870
PubMed Abstract	The Purkinje cell degeneration (pcd) mouse is a recessive model of neurodegeneration, involving cerebellum and retina. Purkinje cell death in pcd is dramatic, as >99% of Purkinje neurons are lost in 3 weeks. Loss of function of Nna1 causes pcd, and Nna1 is a highly conserved zinc carboxypeptidase. To determine the basis of pcd, we implemented a two-pronged approach, combining characterization of loss-of-function phenotypes of the Drosophila Nna1 ortholog (NnaD) with proteomics analysis of pcd mice. Reduced NnaD function yielded larval lethality, with survivors displaying phenotypes that mirror disease in pcd. Quantitative proteomics revealed expression alterations for glycolytic and oxidative phosphorylation enzymes. Nna proteins localize to mitochondria, loss of NnaD/Nna1 produces mitochondrial abnormalities, and pcd mice display altered proteolytic processing of Nna1 interacting proteins. Our studies indicate that Nna1 loss of function results in altered bioenergetics and mitochondrial dysfunction.
DOI	10.1016/j.neuron.2010.05.024
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Language of Publication	English
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Publication Type	Journal
Abbreviation	Neuron
Title	Neuron
Publication Year	1988-
ISBN/ISSN	0896-6273
Data from Reference
Alleles (8)
	Avic\GFP^Scer\UAS.cUa BacA\p35^Scer\UAS.cHa NnaD^GD7301 NnaD^PL90 NnaD^RA.Scer\UAS NnaD^RB.Scer\UAS Scer\GAL4^ey.PU Scer\GAL4^NnaD.1.3
Constructs (8)
	P{ey-GAL4.U} P{GD7301} P{lacW} P{NnaD-GAL4.1.9} P{UAS-GFP.U} P{UAS-NnaD.RA} P{UAS-NnaD.RB} P{UAS-p35.H}
Genes (4)
	Avic\GFP BacA\p35 NnaD Scer\GAL4
Insertions (1)
	P{lacW}NnaD^PL90
Natural transposons (1)
	P-element
Transcripts (1)
	Scer\GAL4^NnaD.1.3RA