Literature DB >> 19021754

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease.

Jose Bras1, Andrew Singleton, Mark R Cookson, John Hardy.   

Abstract

Heterozygous loss-of-function mutations at the glucosecerebrosidase locus have recently been shown to be a potent risk factor for Lewy body disease. Based on this observation, we have re-evaluated the likelihood that the different PARK loci (defined using clinical criteria for disease) may be misleading attempts to find common pathways to pathogenesis. Rather, we suggest, grouping the different loci which lead to different Lewy body disease may be more revealing. Doing this, we suggest that several of the genes involved in disparate Lewy body diseases impinge on ceramide metabolism and we suggest that this may be a common theme for pathogenesis.

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Year:  2008        PMID: 19021754      PMCID: PMC2646080          DOI: 10.1111/j.1742-4658.2008.06709.x

Source DB:  PubMed          Journal:  FEBS J        ISSN: 1742-464X            Impact factor:   5.542


  56 in total

1.  Hereditary sensory radicular neuropathy.

Authors:  A J MANDELL; C K SMITH
Journal:  Neurology       Date:  1960-07       Impact factor: 9.910

2.  Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.

Authors:  Hiroaki Tamura; Tsutomu Takahashi; Nobuhiro Ban; Hiroyuki Torisu; Haruaki Ninomiya; Goro Takada; Nobuya Inagaki
Journal:  Mol Genet Metab       Date:  2005-09-06       Impact factor: 4.797

3.  Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies.

Authors:  M Neumann; S Adler; O Schlüter; E Kremmer; R Benecke; H A Kretzschmar
Journal:  Acta Neuropathol       Date:  2000-11       Impact factor: 17.088

Review 4.  Niemann-Pick disease type C.

Authors:  M T Vanier; G Millat
Journal:  Clin Genet       Date:  2003-10       Impact factor: 4.438

5.  Stabilization of alpha-synuclein protein with aging and familial parkinson's disease-linked A53T mutation.

Authors:  Wenxue Li; Christian Lesuisse; Yanqun Xu; Juan C Troncoso; Donald L Price; Michael K Lee
Journal:  J Neurosci       Date:  2004-08-18       Impact factor: 6.167

6.  Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.

Authors:  Jose Bras; Coro Paisan-Ruiz; Rita Guerreiro; Maria Helena Ribeiro; Ana Morgadinho; Cristina Januario; Ellen Sidransky; Catarina Oliveira; Andrew Singleton
Journal:  Neurobiol Aging       Date:  2007-12-21       Impact factor: 4.673

Review 7.  Principles of bioactive lipid signalling: lessons from sphingolipids.

Authors:  Yusuf A Hannun; Lina M Obeid
Journal:  Nat Rev Mol Cell Biol       Date:  2008-02       Impact factor: 94.444

Review 8.  Spectrum of phenotypes and genotypes in Parkinson's disease.

Authors:  Olaf Riess; Rejko Krüger; Jörg B Schulz
Journal:  J Neurol       Date:  2002-10       Impact factor: 4.849

9.  Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

Authors:  Enza Maria Valente; Patrick M Abou-Sleiman; Viviana Caputo; Miratul M K Muqit; Kirsten Harvey; Suzana Gispert; Zeeshan Ali; Domenico Del Turco; Anna Rita Bentivoglio; Daniel G Healy; Alberto Albanese; Robert Nussbaum; Rafael González-Maldonado; Thomas Deller; Sergio Salvi; Pietro Cortelli; William P Gilks; David S Latchman; Robert J Harvey; Bruno Dallapiccola; Georg Auburger; Nicholas W Wood
Journal:  Science       Date:  2004-04-15       Impact factor: 47.728

10.  Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

Authors:  Coro Paisán-Ruíz; Shushant Jain; E Whitney Evans; William P Gilks; Javier Simón; Marcel van der Brug; Adolfo López de Munain; Silvia Aparicio; Angel Martínez Gil; Naheed Khan; Janel Johnson; Javier Ruiz Martinez; David Nicholl; Itxaso Martí Carrera; Amets Saénz Pena; Rohan de Silva; Andrew Lees; José Félix Martí-Massó; Jordi Pérez-Tur; Nick W Wood; Andrew B Singleton
Journal:  Neuron       Date:  2004-11-18       Impact factor: 17.173

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  64 in total

Review 1.  The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.

Authors:  Arash Velayati; W Haung Yu; Ellen Sidransky
Journal:  Curr Neurol Neurosci Rep       Date:  2010-05       Impact factor: 5.081

2.  Inhibition of the PLP-dependent enzyme serine palmitoyltransferase by cycloserine: evidence for a novel decarboxylative mechanism of inactivation.

Authors:  Jonathan Lowther; Beverley A Yard; Kenneth A Johnson; Lester G Carter; Venugopal T Bhat; Marine C C Raman; David J Clarke; Britta Ramakers; Stephen A McMahon; James H Naismith; Dominic J Campopiano
Journal:  Mol Biosyst       Date:  2010-05-05

3.  Minimal peroxide exposure of neuronal cells induces multifaceted adaptive responses.

Authors:  Wayne Chadwick; Yu Zhou; Sung-Soo Park; Liyun Wang; Nicholas Mitchell; Matthew D Stone; Kevin G Becker; Bronwen Martin; Stuart Maudsley
Journal:  PLoS One       Date:  2010-12-17       Impact factor: 3.240

Review 4.  The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.

Authors:  John DePaolo; Ozlem Goker-Alpan; Ted Samaddar; Grisel Lopez; Ellen Sidransky
Journal:  Mov Disord       Date:  2009-08-15       Impact factor: 10.338

Review 5.  GBA-Associated Parkinson's Disease and Other Synucleinopathies.

Authors:  Ziv Gan-Or; Christopher Liong; Roy N Alcalay
Journal:  Curr Neurol Neurosci Rep       Date:  2018-06-08       Impact factor: 5.081

6.  Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Authors:  E Sidransky; M A Nalls; J O Aasly; J Aharon-Peretz; G Annesi; E R Barbosa; A Bar-Shira; D Berg; J Bras; A Brice; C-M Chen; L N Clark; C Condroyer; E V De Marco; A Dürr; M J Eblan; S Fahn; M J Farrer; H-C Fung; Z Gan-Or; T Gasser; R Gershoni-Baruch; N Giladi; A Griffith; T Gurevich; C Januario; P Kropp; A E Lang; G-J Lee-Chen; S Lesage; K Marder; I F Mata; A Mirelman; J Mitsui; I Mizuta; G Nicoletti; C Oliveira; R Ottman; A Orr-Urtreger; L V Pereira; A Quattrone; E Rogaeva; A Rolfs; H Rosenbaum; R Rozenberg; A Samii; T Samaddar; C Schulte; M Sharma; A Singleton; M Spitz; E-K Tan; N Tayebi; T Toda; A R Troiano; S Tsuji; M Wittstock; T G Wolfsberg; Y-R Wu; C P Zabetian; Y Zhao; S G Ziegler
Journal:  N Engl J Med       Date:  2009-10-22       Impact factor: 91.245

7.  Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients.

Authors:  Zygmunt Jamrozik; Agnieszka Lugowska; Jaroslaw Slawek; Hubert Kwiecinski
Journal:  J Neurol       Date:  2009-11-01       Impact factor: 4.849

Review 8.  Lysosomal impairment in Parkinson's disease.

Authors:  Benjamin Dehay; Marta Martinez-Vicente; Guy A Caldwell; Kim A Caldwell; Zhenyue Yue; Mark R Cookson; Christine Klein; Miquel Vila; Erwan Bezard
Journal:  Mov Disord       Date:  2013-04-11       Impact factor: 10.338

9.  The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.

Authors:  Ziv Gan-Or; Laurie J Ozelius; Anat Bar-Shira; Rachel Saunders-Pullman; Anat Mirelman; Ruth Kornreich; Mali Gana-Weisz; Deborah Raymond; Liron Rozenkrantz; Andres Deik; Tanya Gurevich; Susan J Gross; Nicole Schreiber-Agus; Nir Giladi; Susan B Bressman; Avi Orr-Urtreger
Journal:  Neurology       Date:  2013-03-27       Impact factor: 9.910

10.  Genetic determinants of circulating sphingolipid concentrations in European populations.

Authors:  Andrew A Hicks; Peter P Pramstaller; Asa Johansson; Veronique Vitart; Igor Rudan; Peter Ugocsai; Yurii Aulchenko; Christopher S Franklin; Gerhard Liebisch; Jeanette Erdmann; Inger Jonasson; Irina V Zorkoltseva; Cristian Pattaro; Caroline Hayward; Aaron Isaacs; Christian Hengstenberg; Susan Campbell; Carsten Gnewuch; A Cecilej W Janssens; Anatoly V Kirichenko; Inke R König; Fabio Marroni; Ozren Polasek; Ayse Demirkan; Ivana Kolcic; Christine Schwienbacher; Wilmar Igl; Zrinka Biloglav; Jacqueline C M Witteman; Irene Pichler; Ghazal Zaboli; Tatiana I Axenovich; Annette Peters; Stefan Schreiber; H-Erich Wichmann; Heribert Schunkert; Nick Hastie; Ben A Oostra; Sarah H Wild; Thomas Meitinger; Ulf Gyllensten; Cornelia M van Duijn; James F Wilson; Alan Wright; Gerd Schmitz; Harry Campbell
Journal:  PLoS Genet       Date:  2009-10-02       Impact factor: 5.917

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