Veröffentlichungen Dr. Dr. Saskia Biskup

Biskup S. Hochdurchsatz-Sequenzierung in der Humangenetischen Diagnostik / Next-generation sequencing in genetic diagnostics. Journal of Laboratory Medicine. Nov 2010, Band 34, Nr. 6, 305-309.

Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. (2010). Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet.

Haebig K, Gloeckner CJ, Miralles MG, Gillardon F, Schulte C, Riess O, Ueffing M, Biskup S, Bonin M. (2010). ARHGEF7 (BETA-PIX) Acts as Guanine Nucleotide Exchange Factor for Leucine-Rich Repeat Kinase 2. PLoS One. 29;5(10):e13762.

Söhn AS, Franck T, Biskup S, Giaime E, Melle C, Rott R, Cebo D, Kalbacher H, Ott E, Pahnke J, Meitinger T, Krüger R, Gasser T, Berg D, von Eggeling F, Engelender S, da Costa C, Riess O (2010). Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease, Neurogenetics 11(2):203-15.

Andres-Mateos E, Mejias R, Sasaki M, Li X, Lin BM, Biskup S, Zhang L, Banerjee R, Thomas B, Yang L, Liu G, Beal MF, Huso DL, Dawson TM, Dawson VL. (2009). Unexpected lack of hypersensitivity in LRRK2 knock-out mice to MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine). J Neurosci. 16;29(50):15846-50.

Hofbauer A, Ebel T, Waltenspiel B, Oswald P, Chen Y-C, Halder P, Biskup S, Lewandrowski U, Winkler C, Sickmann A, Buchner S, Buchner E (2009). The Wuerzburg hybridoma library against Drosophila brain. Journal of Neurogenetics 23 (1-2): 78-91.

Biskup S, West AB (2009), Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease. Biochim Biophys Acta 1792(7): 625-633

Biskup S, Gerlach M, Kupsch A, Reichmann H, Riederer P, Vieregge P, Wuellner U, Gasser T (2008), Genes associated with Parkinson syndrome. J Neurol 255 Suppl 5: 8-17.

Biskup S, Moore DJ, Rea A, Lorenz-Deperieux B, Coombes CE, Dawson VL, Dawson TM, West AB (2007), Dynamic and redundant regulation of LRRK2 and LRRK1 expression, BMC Neurosci 28;8(1):102

Higashi S, Biskup S, West AB, Trinkaus D, Dawson VL, Faull RL, Waldvogel HJ, Arai H, Dawson TM, Moore DJ, Emson PC (2007), Localization of Parkinson's disease-associated LRRK2 in normal and pathological human brain. Brain Res 1155: 208-19

West AB, Moore DJ, Choi C, Andrabi SA, Li X, Dikeman D, Biskup S, Zhang Z, Lim KL, Dawson VL, Dawson TM (2007), Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity. Hum Mol Genet 16(2): 223-32.

Higashi S, Moore DJ, Colebrooke RE, Biskup S, Dawson VL, Arai H, Dawson TM, Emson PC (2007), Expression and localization of Parkinson's disease-associated leucine-rich repeat kinase 2 in the mouse brain. J Neurochem 100(2): 368-381.

Biskup S, Moore DJ, Celsi F, Higashi S, West AB, Andrabi SA, Kurkinen K, Yu SW, Savitt JM, Waldvogel HJ, Faull RL, Emson PC, Torp R, Ottersen OP, Dawson TM, Dawson VL (2006), Localization of LRRK2 to membranous and vesicular structures in mammalian brain. Ann Neurol 60 (5): 557-569

Biskup S, Moore DJ, (2006), Detrimental deletions: mitochondria, aging and Parkinson’s disease. BioEssays 28: 963-967

West AB, Moore DJ, Biskup S, Bugayenko A, Smith WW, Ross CA, Dawson VL, Dawson TM (2005), Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci U S A 102: 16842-16847

Biskup S, Mueller JC, Sharma M, Lichtner P, Zimprich A, Berg D, Wüllner U, Illig T, Meitinger T, Gasser T (2005), Common variants of LRRK2 are not associated with sporadic Parkinson's disease, Ann Neurol 58 (6): 905-908

Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AMJM, Pusch M, Strom TM (2005), Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366:371-377

Mueller JC, Lõhmussaar E, Mägi R, Remm M, Bettecken T, Lichtner P, Biskup S, Illig T, Arne Pfeufer, Jan Luedemann, Stefan Schreiber, Peter Pramstaller, Irene Pichler, Giovanni Romeo, Anthony Gaddi, Alessandra Testa, Heinz-Erich Wichmann, Andres Metspalu, Thomas Meitinger (2005), Linkage disequilibrium patterns and tagSNP transferability among European populations, Am J Hum Genet 76:387-398

Alexander Zimprich, Saskia Biskup, Petra Leitner, Peter Lichtner, Matthew Farrer, Sarah Lincoln, Jennifer Kachergus, Mary Hulihan, Ryan J Uitti, Donald B Calne, A Jon Stoessl, Ronald F Pfeiffer, Nadja Patenge, Iria Carballo Carbajal, Peter Vieregge, Friedrich Asmus, Bertram Müller-Myhsok, Dennis W Dickson, Thomas Meitinger, Tim M Strom, Zbigniew K Wszolek, Thomas Gasser (2004), Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology, Neuron 44:601-607

Natalja Funk, Sonja Becker, Saskia Huber, Marion Brunner, and Erich Buchner (2004), Targeted mutagenesis of the Sap47 gene of Drosophila: Flies lacking the synapse associated protein of 47 kDa are viable and fertile, BMC Neurosci 5. 16

Tobias Doerks, Saskia Huber, Erich Buchner and Peer Bork (2002), BSD, a novel domain in transcription factors and other chromatin-associated proteins, TRENDS in Biochemical Sciences 27.4: 168-170.

Saskia Huber, Esther Asan, Thomas Jöns, Christiane Kerscher, Bernd Püschel, Detlev Drenckhahn (1999), Expression of rat kidney anion exchanger 1 in type A intercalated cells in metabolic acidosis and alkalosis Am J Physiol Renal Physiol 277: F841-F849