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There are 306857 results for: content related to: Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia

  1. Structural and Dynamic Basis of Human Cytochrome P450 7B1: A Survey of Substrate Selectivity and Major Active Site Access Channels

    Chemistry - A European Journal

    Volume 19, Issue 2, January 7, 2013, Pages: 549–557, Ying-Lu Cui, Ji-Long Zhang, Prof. Qing-Chuan Zheng, Rui-Juan Niu, Yu Xu, Prof. Hong-Xing Zhang and Chia-Chung Sun

    Version of Record online : 23 NOV 2012, DOI: 10.1002/chem.201202627

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    Regulation of oxysterol 7α-hydroxylase (CYP7B1) in primary cultures of rat hepatocytes

    Hepatology

    Volume 35, Issue 6, June 2002, Pages: 1400–1408, William M. Pandak, Phillip B. Hylemon, Shunlin Ren, Dalila Marques, Gregorio Gil, Kaye Redford, Darrell Mallonee and Z. Rano Vlahcevic

    Version of Record online : 30 DEC 2003, DOI: 10.1053/jhep.2002.33200

  3. Regulation and expression of human CYP7B1 in prostate: Overexpression of CYP7B1 during progression of prostatic adenocarcinoma

    The Prostate

    Volume 67, Issue 13, 15 September 2007, Pages: 1439–1446, Mats Olsson, Ove Gustafsson, Cristine Skogastierna, Anna Tolf, Barbara Du Rietz, Robert Morfin, Anders Rane and Lena Ekström

    Version of Record online : 18 JUL 2007, DOI: 10.1002/pros.20630

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    Cytochrome P450s in the synthesis of cholesterol and bile acids – from mouse models to human diseases

    The FEBS Journal

    Volume 279, Issue 9, May 2012, Pages: 1516–1533, Gregor Lorbek, Monika Lewinska and Damjana Rozman

    Version of Record online : 22 DEC 2011, DOI: 10.1111/j.1742-4658.2011.08432.x

  5. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

    Clinical Genetics

    Volume 81, Issue 2, February 2012, Pages: 150–157, A Arnoldi, C Crimella, E Tenderini, A Martinuzzi, MG D'Angelo, O Musumeci, A Toscano, M Scarlato, M Fantin, N Bresolin and MT Bassi

    Version of Record online : 31 JAN 2011, DOI: 10.1111/j.1399-0004.2011.01624.x

  6. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 148–160, NA Schlipf, R Schüle, S Klimpe, KN Karle, M Synofzik, J Schicks, O Riess, L Schöls and P Bauer

    Version of Record online : 13 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01715.x

  7. Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5

    European Journal of Neurology

    Volume 22, Issue 1, January 2015, Pages: 211–214, M.-Y. Lan, T.-H. Yeh, Y.-Y. Chang, H.-C. Kuo, H. S. Sun, S.-C. Lai and C.-S. Lu

    Version of Record online : 18 MAR 2014, DOI: 10.1111/ene.12407

  8. CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A

    Acta Neurologica Scandinavica

    Volume 129, Issue 5, May 2014, Pages: 330–334, P. Roos, K. Svenstrup, E. R. Danielsen, C. Thomsen and J. E. Nielsen

    Version of Record online : 1 OCT 2013, DOI: 10.1111/ane.12188

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    CYP7B1-mediated metabolism of dehydroepiandrosterone and 5α-androstane-3β,17β-diol – potential role(s) for estrogen signaling

    The FEBS Journal

    Volume 275, Issue 8, April 2008, Pages: 1778–1789, Hanna Pettersson, Lisa Holmberg, Magnus Axelson and Maria Norlin

    Version of Record online : 7 MAR 2008, DOI: 10.1111/j.1742-4658.2008.06336.x

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    Human steroid and oxysterol 7α-hydroxylase CYP7B1: substrate specificity, azole binding and misfolding of clinically relevant mutants

    The FEBS Journal

    Volume 281, Issue 6, March 2014, Pages: 1700–1713, Aleksei V. Yantsevich, Yaroslav V. Dichenko, Farrell MacKenzie, Dmitry V. Mukha, Alexander V. Baranovsky, Andrei A. Gilep, Sergey A. Usanov and Natallia V. Strushkevich

    Version of Record online : 20 FEB 2014, DOI: 10.1111/febs.12733

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    Characterization of the dehydroepiandrosterone (DHEA) metabolism via oxysterol 7α-hydroxylase and 17-ketosteroid reductase activity in the human brain

    Journal of Neurochemistry

    Volume 83, Issue 3, November 2002, Pages: 713–726, Stephan Steckelbroeck, Matthias Watzka, Dieter Lütjohann, Paul Makiola, Alexander Nassen, Volkmar H. J. Hans, Hans Clusmann, Annette Reissinger, Michael Ludwig, Lothar Siekmann and Dietrich Klingmüller

    Version of Record online : 17 OCT 2002, DOI: 10.1046/j.1471-4159.2002.01187.x

  12. Spinal myoclonus resulting from intrathecal administration of human neural stem cells

    Movement Disorders

    Volume 26, Issue 7, June 2011, Pages: 1358–1360, Toshitaka Kawarai, Reiko Tsuda, Koichiro Taniguchi, Naoki Saji, Makoto Tadano, Hirotaka Shimizu, Yasushi Kita and Takeshi Ishimoto

    Version of Record online : 19 APR 2011, DOI: 10.1002/mds.23558

  13. Copper deficiency in Wilson's disease: Peripheral neuropathy and myelodysplastic syndrome complicating zinc treatment

    Movement Disorders

    Volume 26, Issue 7, June 2011, Pages: 1361–1362, Andrea Cortese, Roberta Zangaglia, Alessandro Lozza, Giovanni Piccolo and Claudio Pacchetti

    Version of Record online : 29 MAR 2011, DOI: 10.1002/mds.23520

  14. Carbamazepine responsive dysphagia—A variant of paroxysmal kinesigenic dyskinesia?

    Movement Disorders

    Volume 26, Issue 7, June 2011, Pages: 1356–1358, Hrishikesh Kumar, Angela South and Mandar Jog

    Version of Record online : 14 APR 2011, DOI: 10.1002/mds.23541

  15. Seventy years of episodic stiffness: An unusual case of neuromyotonia

    Movement Disorders

    Volume 26, Issue 7, June 2011, Pages: 1360–1361, Christos Ganos, Alexander Münchau, Tobias Bäumer, Christian Gerloff and Tim Magnus

    Version of Record online : 15 APR 2011, DOI: 10.1002/mds.23505

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    Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient

    Liver Transplantation

    Volume 17, Issue 9, September 2011, Pages: 1059–1065, Tatsuki Mizuochi, Akihiko Kimura, Mitsuyoshi Suzuki, Isao Ueki, Hajime Takei, Hiroshi Nittono, Toshihiko Kakiuchi, Takanobu Shigeta, Seisuke Sakamoto, Akinari Fukuda, Atsuko Nakazawa, Toshiaki Shimizu, Takao Kurosawa and Mureo Kasahara

    Version of Record online : 22 AUG 2011, DOI: 10.1002/lt.22331

  17. EBI2 regulates intracellular signaling and migration in human astrocyte

    Glia

    Volume 63, Issue 2, February 2015, Pages: 341–351, Aleksandra Rutkowska, Inga Preuss, Francois Gessier, Andreas W. Sailer and Kumlesh K. Dev

    Version of Record online : 9 OCT 2014, DOI: 10.1002/glia.22757

  18. Parkinson's disease and pain—Nondopaminergic mechanisms are likely to be important too

    Movement Disorders

    Volume 26, Issue 7, June 2011, Pages: 1353–1354, Shen-Yang Lim, Michael J. Farrell and Andrew H. Evans

    Version of Record online : 29 MAR 2011, DOI: 10.1002/mds.22959

  19. Involvement of the abscisic acid catabolic gene CYP707A2 in the glucose-induced delay in seed germination and post-germination growth of Arabidopsis

    Physiologia Plantarum

    Volume 143, Issue 4, December 2011, Pages: 375–384, Guohui Zhu, Yinggao Liu, Nenghui Ye, Rui Liu and Jianhua Zhang

    Version of Record online : 4 OCT 2011, DOI: 10.1111/j.1399-3054.2011.01510.x

  20. Amphipol trapping of a functional CYP system

    Biotechnology and Applied Biochemistry

    Volume 60, Issue 1, January/February 2013, Pages: 119–127, Tomas Laursen, Peter Naur and Birger Lindberg Møller

    Version of Record online : 17 FEB 2013, DOI: 10.1002/bab.1092