Literature DB >> 20582942

Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Nicola Ticozzi1, Ashley Lyn LeClerc, Pamela J Keagle, Jonathan D Glass, Anne-Marie Wills, Marka van Blitterswijk, Daryl A Bosco, Ildefonso Rodriguez-Leyva, Cinzia Gellera, Antonia Ratti, Franco Taroni, Diane McKenna-Yasek, Peter C Sapp, Vincenzo Silani, Clement E Furlong, Robert H Brown, John E Landers.   

Abstract

Three clustered, homologous paraoxonase genes (PON1, PON2, and PON3) have roles in preventing lipid oxidation and detoxifying organophosphates. Recent reports describe a genetic association between the PON genes and sporadic amyotrophic lateral sclerosis (ALS). We now report that in genomic DNA from individuals with familial and sporadic ALS, we have identified at least 7 PON gene mutations that are predicted to alter PON function.

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Year:  2010        PMID： 20582942      PMCID： PMC2945725          DOI： 10.1002/ana.21993

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  25 in total

1.  Rabbit serum paraoxonase 3 (PON3) is a high density lipoprotein-associated lactonase and protects low density lipoprotein against oxidation.

Authors:  D I Draganov; P L Stetson; C E Watson; S S Billecke; B N La Du
Journal:  J Biol Chem       Date:  2000-10-27       Impact factor: 5.157

2.  Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

Authors:  Jonathan C Cohen; Robert S Kiss; Alexander Pertsemlidis; Yves L Marcel; Ruth McPherson; Helen H Hobbs
Journal:  Science       Date:  2004-08-06       Impact factor: 47.728

3.  Identification of residues essential for human paraoxonase (PON1) arylesterase/organophosphatase activities.

Authors:  D Josse; W Xie; F Renault; D Rochu; L M Schopfer; P Masson; O Lockridge
Journal:  Biochemistry       Date:  1999-03-02       Impact factor: 3.162

4.  Paraoxonase-2 is a ubiquitously expressed protein with antioxidant properties and is capable of preventing cell-mediated oxidative modification of low density lipoprotein.

Authors:  C J Ng; D J Wadleigh; A Gangopadhyay; S Hama; V R Grijalva; M Navab; A M Fogelman; S T Reddy
Journal:  J Biol Chem       Date:  2001-09-28       Impact factor: 5.157

5.  Organophosphorus hydrolase is a remarkably stable enzyme that unfolds through a homodimeric intermediate.

Authors:  J K Grimsley; J M Scholtz; C N Pace; J R Wild
Journal:  Biochemistry       Date:  1997-11-25       Impact factor: 3.162

6.  Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status.

Authors:  Gail P Jarvik; Rachel Jampsa; Rebecca J Richter; Chris S Carlson; Mark J Rieder; Deborah A Nickerson; Clement E Furlong
Journal:  Pharmacogenetics       Date:  2003-05

7.  Paraoxonase prevents accumulation of lipoperoxides in low-density lipoprotein.

Authors:  M I Mackness; S Arrol; P N Durrington
Journal:  FEBS Lett       Date:  1991-07-29       Impact factor: 4.124

8.  Identification of a distinct human high-density lipoprotein subspecies defined by a lipoprotein-associated protein, K-45. Identity of K-45 with paraoxonase.

Authors:  M C Blatter; R W James; S Messmer; F Barja; D Pometta
Journal:  Eur J Biochem       Date:  1993-02-01

9.  Oligomeric states of the detergent-solubilized human serum paraoxonase (PON1).

Authors:  Denis Josse; Christine Ebel; David Stroebel; Alice Fontaine; Frédéric Borges; Aude Echalier; Delphine Baud; Frédérique Renault; Marc Le Maire; Eric Chabrieres; Patrick Masson
Journal:  J Biol Chem       Date:  2002-06-21       Impact factor: 5.157

10.  A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.

Authors:  A-M Wills; S Cronin; A Slowik; D Kasperaviciute; M A Van Es; J M Morahan; P N Valdmanis; V Meininger; J Melki; C E Shaw; G A Rouleau; E M C Fisher; P J Shaw; K E Morrison; R Pamphlett; L H Van den Berg; D A Figlewicz; P M Andersen; A Al-Chalabi; O Hardiman; S Purcell; J E Landers; R H Brown
Journal:  Neurology       Date:  2009-03-25       Impact factor: 9.910
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  25 in total

1.  The paraoxonase disruption hypothesis in sporadic ALS steamrolled.

Authors:  Philipp G Sand
Journal:  Neurol Sci       Date:  2016-02-17       Impact factor: 3.307

Review 2.  Organophosphate neurotoxicity to the voluntary motor system on the trail of environment-caused amyotrophic lateral sclerosis: the known, the misknown, and the unknown.

Authors:  Samantha J Merwin; Teresa Obis; Yanelli Nunez; Diane B Re
Journal:  Arch Toxicol       Date:  2017-01-09       Impact factor: 5.153

3.  Phenotypic heterogeneity in a SOD1 G93D Italian ALS family: an example of human model to study a complex disease.

Authors:  Silvana Penco; Christian Lunetta; Lorena Mosca; Eleonora Maestri; Francesca Avemaria; Claudia Tarlarini; Maria Cristina Patrosso; Alessandro Marocchi; Massimo Corbo
Journal:  J Mol Neurosci       Date:  2010-12-01       Impact factor: 3.444

4.  Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.

Authors:  Han-Xiang Deng; Eileen H Bigio; Hong Zhai; Faisal Fecto; Kaouther Ajroud; Yong Shi; Jianhua Yan; Manjari Mishra; Senda Ajroud-Driss; Scott Heller; Robert Sufit; Nailah Siddique; Enrico Mugnaini; Teepu Siddique
Journal:  Arch Neurol       Date:  2011-08

Review 5.  Human paraoxonase-1 (PON1): Gene structure and expression, promiscuous activities and multiple physiological roles.

Authors:  Mike Mackness; Bharti Mackness
Journal:  Gene       Date:  2015-05-09       Impact factor: 3.688

Review 6.  Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis.

Authors:  Emanuele D'Amico; Pam Factor-Litvak; Regina M Santella; Hiroshi Mitsumoto
Journal:  Free Radic Biol Med       Date:  2013-06-21       Impact factor: 7.376

Review 7.  HDL and cognition in neurodegenerative disorders.

Authors:  David A Hottman; Dustin Chernick; Shaowu Cheng; Zhe Wang; Ling Li
Journal:  Neurobiol Dis       Date:  2014-08-13       Impact factor: 5.996

Review 8.  Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.

Authors:  Faisal Fecto; Teepu Siddique
Journal:  J Mol Neurosci       Date:  2011-09-07       Impact factor: 3.444

9.  Regulation of FMO and PON detoxication systems in ALS human tissues.

Authors:  Stella Gagliardi; Kenneth Abel; Marika Bianchi; Pamela Milani; Stefano Bernuzzi; Manuel Corato; Mauro Ceroni; John R Cashman; Cristina Cereda
Journal:  Neurotox Res       Date:  2012-10-17       Impact factor: 3.911

Review 10.  Amyotrophic lateral sclerosis and environmental factors.

Authors:  Virginia Bozzoni; Orietta Pansarasa; Luca Diamanti; Guido Nosari; Cristina Cereda; Mauro Ceroni
Journal:  Funct Neurol       Date:  2016 Jan-Mar
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