Literature DB >> 17209134

Mutations in PLA2G6 and the riddle of Schindler disease.

S K Westaway, A Gregory, S J Hayflick.   

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Year:  2007        PMID： 17209134      PMCID： PMC2597919          DOI： 10.1136/jmg.2006.044966

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.

Authors:  D Schindler; D F Bishop; D E Wolfe; A M Wang; H Egge; R U Lemieux; R J Desnick
Journal:  N Engl J Med       Date:  1989-06-29       Impact factor: 91.245

2.  Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?

Authors:  H D Bakker; M L de Sonnaville; P Vreken; N G Abeling; J E Groener; J L Keulemans; O P van Diggelen
Journal:  Eur J Hum Genet       Date:  2001-02       Impact factor: 4.246

3.  Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

Authors:  A M Wang; D Schindler; R Desnick
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

4.  Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

Authors:  J L Keulemans; A J Reuser; M A Kroos; R Willemsen; M M Hermans; A M van den Ouweland; J G de Jong; R A Wevers; W O Renier; D Schindler; M J Coll; A Chabas; H Sakuraba; Y Suzuki; O P van Diggelen
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

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

Authors:  Neil V Morgan; 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
Journal:  Nat Genet       Date:  2006-06-18       Impact factor: 38.330
  5 in total
  5 in total

Review 1.  Phospholipase A2 enzymes: physical structure, biological function, disease implication, chemical inhibition, and therapeutic intervention.

Authors:  Edward A Dennis; Jian Cao; Yuan-Hao Hsu; Victoria Magrioti; George Kokotos
Journal:  Chem Rev       Date:  2011-09-12       Impact factor: 60.622

Review 2.  Calcium-independent phospholipases A2 and their roles in biological processes and diseases.

Authors:  Sasanka Ramanadham; Tomader Ali; Jason W Ashley; Robert N Bone; William D Hancock; Xiaoyong Lei
Journal:  J Lipid Res       Date:  2015-05-28       Impact factor: 5.922

3.  Evidence for proteolytic processing and stimulated organelle redistribution of iPLA(2)beta.

Authors:  Haowei Song; Shunzhong Bao; Xiaoyong Lei; Chun Jin; Sheng Zhang; John Turk; Sasanka Ramanadham
Journal:  Biochim Biophys Acta       Date:  2010-02-02

Review 4.  Group VIA Ca2+-independent phospholipase A2 (iPLA2beta) and its role in beta-cell programmed cell death.

Authors:  Xiaoyong Lei; Suzanne E Barbour; Sasanka Ramanadham
Journal:  Biochimie       Date:  2010-01-18       Impact factor: 4.079

5.  Genetic modulation of islet β-cell iPLA₂β expression provides evidence for its impact on β-cell apoptosis and autophagy.

Authors:  Xiaoyong Lei; Robert N Bone; Tomader Ali; Mary Wohltmann; Ying Gai; Karen J Goodwin; Alan E Bohrer; John Turk; Sasanka Ramanadham
Journal:  Islets       Date:  2013-01-01       Impact factor: 2.694
  5 in total

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