| First Author | Sato S | Year | 2016 |
| Journal | Am J Pathol | Volume | 186 |
| Issue | 12 | Pages | 3074-3082 |
| PubMed ID | 27770614 | Mgi Jnum | J:238740 |
| Mgi Id | MGI:5823531 | Doi | 10.1016/j.ajpath.2016.08.006 |
| Citation | Sato S, et al. (2016) Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice. Am J Pathol 186(12):3074-3082 |
| abstractText | Kufor-Rakeb syndrome (KRS) is an autosomal recessive form of early-onset parkinsonism linked to the PARK9 locus. The causative gene for KRS is Atp13a2, which encodes a lysosomal type 5 P-type ATPase. We recently showed that KRS/PARK9-linked mutations lead to several lysosomal alterations, including reduced proteolytic processing of cathepsin D in vitro. However, it remains unknown how deficiency of Atp13a2 is connected to lysosomal impairments. To address this issue, we analyzed brain tissues of Atp13a2 conditional-knockout mice, which exhibited characteristic features of neuronal ceroid lipofuscinosis, including accumulation of lipofuscin positive for subunit c of mitochondrial ATP synthase, suggesting that a common pathogenic mechanism underlies both neuronal ceroid lipofuscinosis and Parkinson disease. |
