Literature DB >> 24509641

Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism.

Andrea Mignarri1, Alessandro Malandrini, Marina Del Puppo, Alessandro Magni, Lucia Monti, Federica Ginanneschi, Alessandra Tessa, Filippo Maria Santorelli, Antonio Federico, Maria Teresa Dotti.   

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Year:  2014        PMID： 24509641     DOI： 10.1007/s00415-014-7253-7

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

1.  Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

Authors:  P T Clayton; A Verrips; E Sistermans; A Mann; G Mieli-Vergani; R Wevers
Journal:  J Inherit Metab Dis       Date:  2002-10       Impact factor: 4.982

2.  The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

Authors:  R Schüle; T Holland-Letz; S Klimpe; J Kassubek; T Klopstock; V Mall; S Otto; B Winner; L Schöls
Journal:  Neurology       Date:  2006-08-08       Impact factor: 9.910

3.  Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Authors:  F A Wijburg; F Sedel; M Pineda; C J Hendriksz; M Fahey; M Walterfang; M C Patterson; J E Wraith; S A Kolb
Journal:  Neurology       Date:  2012-04-18       Impact factor: 9.910

4.  Crossing the barrier: net flux of 27-hydroxycholesterol into the human brain.

Authors:  Maura Heverin; Steve Meaney; Dieter Lütjohann; Ulf Diczfalusy; John Wahren; Ingemar Björkhem
Journal:  J Lipid Res       Date:  2005-03-01       Impact factor: 5.922

5.  Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.

Authors:  K D Setchell; M Schwarz; N C O'Connell; E G Lund; D L Davis; R Lathe; H R Thompson; R Weslie Tyson; R J Sokol; D W Russell
Journal:  J Clin Invest       Date:  1998-11-01       Impact factor: 14.808

6.  Transport of cholesterol into mitochondria is rate-limiting for bile acid synthesis via the alternative pathway in primary rat hepatocytes.

Authors:  William M Pandak; Shunlin Ren; Dalila Marques; Elizabeth Hall; Kaye Redford; Darrell Mallonee; Patricia Bohdan; Douglas Heuman; Gregorio Gil; Phillip Hylemon
Journal:  J Biol Chem       Date:  2002-10-03       Impact factor: 5.157

7.  Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

Authors:  Rebecca Schüle; Teepu Siddique; Han-Xiang Deng; Yi Yang; Sandra Donkervoort; Magnus Hansson; Ricardo E Madrid; Nailah Siddique; Ludger Schöls; Ingemar Björkhem
Journal:  J Lipid Res       Date:  2009-10-07       Impact factor: 5.922

8.  CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Authors:  Cyril Goizet; Amir Boukhris; Alexandra Durr; Christian Beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant-Maréchal; Bertrand Fontaine; João Guimarães; Bertrand Isidor; Olivier Chazouillères; Dominique Wendum; Djamel Grid; Françoise Chevy; Patrick F Chinnery; Paula Coutinho; Jean-Philippe Azulay; Imed Feki; Fanny Mochel; Claude Wolf; Chokri Mhiri; Andrew Crosby; Alexis Brice; Giovanni Stevanin
Journal:  Brain       Date:  2009-05-12       Impact factor: 13.501

9.  Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

Authors:  Chiara Criscuolo; Alessandro Filla; Giovanni Coppola; Carlo Rinaldi; Rosa Carbone; Stefano Pinto; Qing Wang; Maria Fulvia de Leva; Elena Salvatore; Sandro Banfi; Arturo Brunetti; Mario Quarantelli; Daniel H Geschwind; Sabina Pappatà; Giuseppe De Michele
Journal:  J Neurol       Date:  2009-04-12       Impact factor: 4.849

10.  Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

Authors:  Maria K Tsaousidou; Karim Ouahchi; Tom T Warner; Yi Yang; Michael A Simpson; Nigel G Laing; Philip A Wilkinson; Ricardo E Madrid; Heema Patel; Faycal Hentati; Michael A Patton; Afif Hentati; Philippa J Lamont; Teepu Siddique; Andrew H Crosby
Journal:  Am J Hum Genet       Date:  2008-01-18       Impact factor: 11.025
  10 in total
  4 in total

1.  Treatment of SPG5 with cholesterol-lowering drugs.

Authors:  Andrea Mignarri; Alessandro Malandrini; Marina Del Puppo; Alessandro Magni; Lucia Monti; Federica Ginanneschi; Alessandra Tessa; Filippo Maria Santorelli; Antonio Federico; Maria Teresa Dotti
Journal:  J Neurol       Date:  2015-11-14       Impact factor: 4.849

2.  Insulin resistance dysregulates CYP7B1 leading to oxysterol accumulation: a pathway for NAFL to NASH transition.

Authors:  Genta Kakiyama; Dalila Marques; Rebecca Martin; Hajime Takei; Daniel Rodriguez-Agudo; Sandra A LaSalle; Taishi Hashiguchi; Xiaoying Liu; Richard Green; Sandra Erickson; Gregorio Gil; Michael Fuchs; Mitsuyoshi Suzuki; Tsuyoshi Murai; Hiroshi Nittono; Phillip B Hylemon; Huiping Zhou; William M Pandak
Journal:  J Lipid Res       Date:  2020-10-02       Impact factor: 5.922

Review 3.  Lipid metabolic pathways converge in motor neuron degenerative diseases.

Authors:  Olivia J Rickman; Emma L Baple; Andrew H Crosby
Journal:  Brain       Date:  2020-04-01       Impact factor: 13.501

4.  Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.

Authors:  Yun-Ping Tang; Jing-Yu Gong; Kenneth D R Setchell; Wujuan Zhang; Jing Zhao; Jian-She Wang
Journal:  BMC Gastroenterol       Date:  2021-04-13       Impact factor: 3.067
  4 in total

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