Literature DB >> 803227

Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis.

P H Fishman, S R Max, J F Tallman, R O Brady, N K Maclaren, M Cornblath.   

Abstract

An unusual lipid storage disese is chracterized by the accumulation of hematoside (Gms3) in the patient's liver and brain. In contrast to the other sphingoliidoses, the accumulation of Gm3 is not the result of a defective catabolic reaction, but is the first disorder caused by deficiency in ganglioside biosynthesis to be described in man.

Entities:  

Mesh：

Substances：

Year:  1975        PMID： 803227     DOI： 10.1126/science.803227

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  16 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

2.  Defect in 3'-phosphoadenosine 5'-phosphosulfate formation in brachymorphic mice.

Authors:  K Sugahara; N B Schwartz
Journal:  Proc Natl Acad Sci U S A       Date:  1979-12       Impact factor: 11.205

Review 3.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

Review 4.  Human genetic disorders of sphingolipid biosynthesis.

Authors:  Leonardo Astudillo; Frédérique Sabourdy; Nicole Therville; Heiko Bode; Bruno Ségui; Nathalie Andrieu-Abadie; Thorsten Hornemann; Thierry Levade
Journal:  J Inherit Metab Dis       Date:  2014-08-21       Impact factor: 4.982

5.  Defects of glycosyltransferase activities in human fibroblasts of Pk and p blood group phenotypes.

Authors:  S Kijimoto-Ochiai; M Naiki; A Makita
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

Review 6.  Multi-system disorders of glycosphingolipid and ganglioside metabolism.

Authors:  You-Hai Xu; Sonya Barnes; Ying Sun; Gregory A Grabowski
Journal:  J Lipid Res       Date:  2010-03-08       Impact factor: 5.922

7.  Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.

Authors:  Konstantina Fragaki; Samira Ait-El-Mkadem; Annabelle Chaussenot; Catherine Gire; Raymond Mengual; Laurent Bonesso; Marie Bénéteau; Jean-Ehrland Ricci; Valérie Desquiret-Dumas; Vincent Procaccio; Agnès Rötig; Véronique Paquis-Flucklinger
Journal:  Eur J Hum Genet       Date:  2012-09-19       Impact factor: 4.246

8.  Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

Authors:  Amir Boukhris; Rebecca Schule; José L Loureiro; Charles Marques Lourenço; Emeline Mundwiller; Michael A Gonzalez; Perrine Charles; Julie Gauthier; Imen Rekik; Rafael F Acosta Lebrigio; Marion Gaussen; Fiorella Speziani; Andreas Ferbert; Imed Feki; Andrés Caballero-Oteyza; Alexandre Dionne-Laporte; Mohamed Amri; Anne Noreau; Sylvie Forlani; Vitor T Cruz; Fanny Mochel; Paula Coutinho; Patrick Dion; Chokri Mhiri; Ludger Schols; Jean Pouget; Frédéric Darios; Guy A Rouleau; Wilson Marques; Alexis Brice; Alexandra Durr; Stephan Zuchner; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2013-06-06       Impact factor: 11.025

9.  Genetic variability for regional brain gangliosides in five strains of young mice.

Authors:  T N Seyfried; G H Glaser; R K Yu
Journal:  Biochem Genet       Date:  1979-02       Impact factor: 1.890

Review 10.  Gangliosides of the Vertebrate Nervous System.

Authors:  Ronald L Schnaar
Journal:  J Mol Biol       Date:  2016-05-31       Impact factor: 5.469
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.