Literature DB >> 16783378

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Neil V Morgan1, Shawn K Westaway, Jenny E V Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangul, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C Trembath, Alessandro Simonati, Carolyn Schanen, Colin A Johnson, Barbara Levinson, C Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R Maher, Susan J Hayflick.   

Abstract

Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.

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Year:  2006        PMID： 16783378      PMCID： PMC2117328          DOI： 10.1038/ng1826

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  11 in total

1.  Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria.

Authors:  N Nardocci; G Zorzi; L Farina; S Binelli; W Scaioli; C Ciano; L Verga; L Angelini; M Savoiardo; O Bugiani
Journal:  Neurology       Date:  1999-04-22       Impact factor: 9.910

2.  Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum.

Authors:  A Mubaidin; E Roberts; D Hampshire; M Dehyyat; A Shurbaji; M Mubaidien; A Jamil; A Al-Din; A Kurdi; C G Woods
Journal:  J Med Genet       Date:  2003-07       Impact factor: 6.318

Review 3.  Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells.

Authors:  Jesús Balsinde; María A Balboa
Journal:  Cell Signal       Date:  2005-04-07       Impact factor: 4.315

4.  A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

Authors:  B Zhou; S K Westaway; B Levinson; M A Johnson; J Gitschier; S J Hayflick
Journal:  Nat Genet       Date:  2001-08       Impact factor: 38.330

5.  Cellular responses to excess phospholipid.

Authors:  I Baburina; S Jackowski
Journal:  J Biol Chem       Date:  1999-04-02       Impact factor: 5.157

Review 6.  Biochemical aspects of neurodegeneration in human brain: involvement of neural membrane phospholipids and phospholipases A2.

Authors:  Akhlaq A Farooqui; Wei-Yi Ong; Lloyd A Horrocks
Journal:  Neurochem Res       Date:  2004-11       Impact factor: 3.996

7.  Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity.

Authors:  P K Larsson; H E Claesson; B P Kennedy
Journal:  J Biol Chem       Date:  1998-01-02       Impact factor: 5.157

8.  Neuroaxonal dystrophy with dystonia and pallidal involvement.

Authors:  A Simonati; C Trevisan; A Salviati; N Rizzuto
Journal:  Neuropediatrics       Date:  1999-06       Impact factor: 1.947

Review 9.  Iron, brain ageing and neurodegenerative disorders.

Authors:  Luigi Zecca; Moussa B H Youdim; Peter Riederer; James R Connor; Robert R Crichton
Journal:  Nat Rev Neurosci       Date:  2004-11       Impact factor: 34.870

10.  Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

Authors:  Susan J Hayflick; Shawn K Westaway; Barbara Levinson; Bing Zhou; Monique A Johnson; Katherine H L Ching; Jane Gitschier
Journal:  N Engl J Med       Date:  2003-01-02       Impact factor: 91.245
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  171 in total

1.  Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.

Authors:  Sen Guo; Liu Yang; Huijie Liu; Wei Chen; Jinchen Li; Ping Yu; Zhong Sheng Sun; Xiang Chen; Jie Du; Tao Cai
Journal:  Mol Neurobiol       Date:  2016-07-09       Impact factor: 5.590

2.  Mutations in PLA2G6 and the riddle of Schindler disease.

Authors:  S K Westaway; A Gregory; S J Hayflick
Journal:  J Med Genet       Date:  2007-01       Impact factor: 6.318

Review 3.  Genetics of neurodegeneration with brain iron accumulation.

Authors:  Allison Gregory; Susan J Hayflick
Journal:  Curr Neurol Neurosci Rep       Date:  2011-06       Impact factor: 5.081

Review 4.  Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.

Authors:  Manju A Kurian; Susan J Hayflick
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

5.  Analysis of two major intracellular phospholipases A(2) (PLA(2)) in mast cells reveals crucial contribution of cytosolic PLA(2)α, not Ca(2+)-independent PLA(2)β, to lipid mobilization in proximal mast cells and distal fibroblasts.

Authors:  Noriko Ueno; Yoshitaka Taketomi; Kei Yamamoto; Tetsuya Hirabayashi; Daisuke Kamei; Yoshihiro Kita; Takao Shimizu; Koei Shinzawa; Yoshihide Tsujimoto; Kazutaka Ikeda; Ryo Taguchi; Makoto Murakami
Journal:  J Biol Chem       Date:  2011-08-31       Impact factor: 5.157

Review 6.  The metabolic serine hydrolases and their functions in mammalian physiology and disease.

Authors:  Jonathan Z Long; Benjamin F Cravatt
Journal:  Chem Rev       Date:  2011-06-23       Impact factor: 60.622

7.  Role of calcium-independent phospholipase A2 in cortex striatum thalamus cortex circuitry-enzyme inhibition causes vacuous chewing movements in rats.

Authors:  Li-Yen Lee; Wei-Yi Ong; Akhlaq A Farooqui; Jean-Marc Burgunder
Journal:  Psychopharmacology (Berl)       Date:  2007-09-04       Impact factor: 4.530

8.  Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Authors:  Nadege Bondurand; Florence Dastot-Le Moal; Laure Stanchina; Nathalie Collot; Viviane Baral; Sandrine Marlin; Tania Attie-Bitach; Irina Giurgea; Laurent Skopinski; William Reardon; Annick Toutain; Pierre Sarda; Anis Echaieb; Marilyn Lackmy-Port-Lis; Renaud Touraine; Jeanne Amiel; Michel Goossens; Veronique Pingault
Journal:  Am J Hum Genet       Date:  2007-10-22       Impact factor: 11.025

9.  Disrupted membrane homeostasis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations.

Authors:  Ibrahim Malik; John Turk; David J Mancuso; Laura Montier; Mary Wohltmann; David F Wozniak; Robert E Schmidt; Richard W Gross; Paul T Kotzbauer
Journal:  Am J Pathol       Date:  2008-01-17       Impact factor: 4.307

Review 10.  Clinical and genetic delineation of neurodegeneration with brain iron accumulation.

Authors:  A Gregory; B J Polster; S J Hayflick
Journal:  J Med Genet       Date:  2008-11-03       Impact factor: 6.318
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