18 results for author:"Biskup S." in Literature citations
Results Customize
› Repeat search in UniProtKB (6)
| Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Synofzik M., Maetzler W., Grehl T., Prudlo J., Vom Hagen J.M., Haack T., Rebassoo P., Munz M., Schols L., Biskup S. Neurobiol. Aging 33:E13-E17(2012) · UniProtKB (1) |
| Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. Synofzik M., Ronchi D., Keskin I., Basak A.N., Wilhelm C., Gobbi C., Birve A., Biskup S., Zecca C., Fernandez-Santiago R. et al. Hum. Mol. Genet. 21:3568-3574(2012) · Mapped (2) |
| Neurodegenerative phenotypes in an A53T alpha-synuclein transgenic mouse model are independent of LRRK2. Daher J.P., Pletnikova O., Biskup S., Musso A., Gellhaar S., Galter D., Troncoso J.C., Lee M.K., Dawson T.M., Dawson V.L. et al. Hum. Mol. Genet. 21:2420-2431(2012) · Mapped (20) |
| Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. Synofzik M., Schicks J., Lindig T., Biskup S., Schmidt T., Hansel J., Lehmann-Horn F., Schols L. J. Med. Genet. 48:713-715(2011) · Mapped (4) |
| Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Haack T.B., Danhauser K., Haberberger B., Hoser J., Strecker V., Boehm D., Uziel G., Lamantea E., Invernizzi F., Poulton J. et al. Nat. Genet. 42:1131-1134(2010) · Mapped (6) |
| ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2. Haebig K., Gloeckner C.J., Miralles M.G., Gillardon F., Schulte C., Riess O., Ueffing M., Biskup S., Bonin M. PLoS ONE 5:e13762-e13762(2010) · Mapped (19) |
| Unexpected lack of hypersensitivity in LRRK2 knock-out mice to MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine). Andres-Mateos E., Mejias R., Sasaki M., Li X., Lin B.M., Biskup S., Zhang L., Banerjee R., Thomas B., Yang L. et al. J. Neurosci. 29:15846-15850(2009) · Mapped (3) |
| Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. Soehn A.S., Franck T., Biskup S., Giaime E., Melle C., Rott R., Cebo D., Kalbacher H., Ott E., Pahnke J. et al. Neurogenetics 11:203-215(2010) · Mapped (15) |
| Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease. Biskup S., West A.B. Biochim. Biophys. Acta 1792:625-633(2009) · Mapped (4) |
| Dynamic and redundant regulation of LRRK2 and LRRK1 expression. Biskup S., Moore D.J., Rea A., Lorenz-Deperieux B., Coombes C.E., Dawson V.L., Dawson T.M., West A.B. BMC Neurosci 8:102-102(2007) · Mapped (15) |
| Localization of Parkinson's disease-associated LRRK2 in normal and pathological human brain. Higashi S., Biskup S., West A.B., Trinkaus D., Dawson V.L., Faull R.L., Waldvogel H.J., Arai H., Dawson T.M., Moore D.J. et al. Brain Res. 1155:208-219(2007) · Mapped (4) |
| Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity. West A.B., Moore D.J., Choi C., Andrabi S.A., Li X., Dikeman D., Biskup S., Zhang Z., Lim K.L., Dawson V.L. et al. Hum. Mol. Genet. 16:223-232(2007) |
| Localization of LRRK2 to membranous and vesicular structures in mammalian brain. Biskup S., Moore D.J., Celsi F., Higashi S., West A.B., Andrabi S.A., Kurkinen K., Yu S.W., Savitt J.M., Waldvogel H.J. et al. Ann. Neurol. 60:557-569(2006) · Mapped (1) |
| Expression and localization of Parkinson's disease-associated leucine-rich repeat kinase 2 in the mouse brain. Higashi S., Moore D.J., Colebrooke R.E., Biskup S., Dawson V.L., Arai H., Dawson T.M., Emson P.C. J. Neurochem. 100:368-381(2007) · Mapped (5) |
| Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. West A.B., Moore D.J., Biskup S., Bugayenko A., Smith W.W., Ross C.A., Dawson V.L., Dawson T.M. Proc. Natl. Acad. Sci. U.S.A. 102:16842-16847(2005) · UniProtKB (1) · Mapped (3) |
| Common variants of LRRK2 are not associated with sporadic Parkinson's disease. Biskup S., Mueller J.C., Sharma M., Lichtner P., Zimprich A., Berg D., Wullner U., Illig T., Meitinger T., Gasser T. Ann. Neurol. 58:905-908(2005) · Mapped (4) |
| Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Dichgans M., Freilinger T., Eckstein G., Babini E., Lorenz-Depiereux B., Biskup S., Ferrari M.D., Herzog J., van den Maagdenberg A.M.J.M., Pusch M. et al. |
| Mutations in a large multifunctional protein (LRRK2) cause autosomal dominant parkinsonism with pleiomorphic a-synuclein and tau-pathology (PARK8). Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S.J., Kachergus J.M., Hulihan M.M., Uitti R.J., Calne D.B. et al. |