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Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis.
Burbulla LF, Schelling C, Kato H, Rapaport D, Woitalla D, Schiesling C, Schulte C, Sharma M, Illig T, Bauer P, Jung S, Nordheim A, Schöls L, Riess O, Krüger R. Burbulla LF, et al. Hum Mol Genet. 2010 Nov 15;19(22):4437-52. doi: 10.1093/hmg/ddq370. Epub 2010 Sep 2. Hum Mol Genet. 2010. PMID: 20817635 Free PMC article.
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Krüger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S. Grau T, et al. Among authors: burbulla lf. J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17. J Med Genet. 2013. PMID: 24136862
Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.
Burbulla LF, Song P, Mazzulli JR, Zampese E, Wong YC, Jeon S, Santos DP, Blanz J, Obermaier CD, Strojny C, Savas JN, Kiskinis E, Zhuang X, Krüger R, Surmeier DJ, Krainc D. Burbulla LF, et al. Science. 2017 Sep 22;357(6357):1255-1261. doi: 10.1126/science.aam9080. Epub 2017 Sep 7. Science. 2017. PMID: 28882997 Free PMC article.
39 results