Literature citations
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
Hering R.; Strauss K.M.; Tao X.; Bauer A.; Woitalla D.; Mietz E.M.; Petrovic S.; Bauer P.; Schaible W.; Mueller T.; Schoels L.; Klein C.; Berg D.; Meyer P.T.; Schulz J.B.; Wollnik B.; Tong L.; Krueger R.; Riess O.;
Hum. Mutat. 24:321-329(2004)
Cited for: VARIANT PARK7 ASP-64; X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS);
Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1.
Goerner K.; Holtorf E.; Odoy S.; Nuscher B.; Yamamoto A.; Regula J.T.; Beyer K.; Haass C.; Kahle P.J.;
J. Biol. Chem. 279:6943-6951(2004)
Cited for: CHARACTERIZATION OF VARIANTS PARK7 ASP-64 AND PRO-166;
Reduced basal autophagy and impaired mitochondrial dynamics due to loss of Parkinson's disease-associated protein DJ-1.
Krebiehl G.; Ruckerbauer S.; Burbulla L.F.; Kieper N.; Maurer B.; Waak J.; Wolburg H.; Gizatullina Z.; Gellerich F.N.; Woitalla D.; Riess O.; Kahle P.J.; Proikas-Cezanne T.; Kruger R.;
PLoS ONE 5:E9367-E9367(2010)
Cited for: VARIANT ASP-64; FUNCTION;
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