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Page 1
Human Dopaminergic Neurons Lacking PINK1 Exhibit Disrupted Dopamine Metabolism Related to Vitamin B6 Co-Factors.
Bus C, Zizmare L, Feldkaemper M, Geisler S, Zarani M, Schaedler A, Klose F, Admard J, Mageean CJ, Arena G, Fallier-Becker P, Ugun-Klusek A, Maruszczak KK, Kapolou K, Schmid B, Rapaport D, Ueffing M, Casadei N, Krüger R, Gasser T, Vogt Weisenhorn DM, Kahle PJ, Trautwein C, Gloeckner CJ, Fitzgerald JC. Bus C, et al. Among authors: rapaport d. iScience. 2020 Nov 13;23(12):101797. doi: 10.1016/j.isci.2020.101797. eCollection 2020 Dec 18. iScience. 2020. PMID: 33299968 Free PMC article.
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. Among authors: rapaport d. 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.
Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease.
Grossmann D, Berenguer-Escuder C, Bellet ME, Scheibner D, Bohler J, Massart F, Rapaport D, Skupin A, Fouquier d'Hérouël A, Sharma M, Ghelfi J, Raković A, Lichtner P, Antony P, Glaab E, May P, Dimmer KS, Fitzgerald JC, Grünewald A, Krüger R. Grossmann D, et al. Among authors: rapaport d. Antioxid Redox Signal. 2019 Dec 1;31(16):1213-1234. doi: 10.1089/ars.2018.7718. Epub 2019 Aug 21. Antioxid Redox Signal. 2019. PMID: 31303019 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: rapaport d. 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
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.
Synofzik M, Haack TB, Kopajtich R, Gorza M, Rapaport D, Greiner M, Schönfeld C, Freiberg C, Schorr S, Holl RW, Gonzalez MA, Fritsche A, Fallier-Becker P, Zimmermann R, Strom TM, Meitinger T, Züchner S, Schüle R, Schöls L, Prokisch H. Synofzik M, et al. Among authors: rapaport d. Am J Hum Genet. 2014 Dec 4;95(6):689-97. doi: 10.1016/j.ajhg.2014.10.013. Epub 2014 Nov 20. Am J Hum Genet. 2014. PMID: 25466870 Free PMC article.
293 results