Literature DB >> 3961501

Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.

M Renlund, F Tietze, W A Gahl.   

Abstract

Normal fibroblasts exposed to N-acetylmannosamine yielded lysosome-rich granular fractions loaded with free (unbound) sialic acid, whose velocity of egress increased with increasing initial loading. Fibroblast granular fractions of patients with Salla disease exhibited negligible egress of sialic acid, whether endogenous or derived from N-acetylmannosamine exposure. Salla disease represents the first disorder demonstrated to be caused by defective transport of a monosaccharide out of cellular lysosomes.

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Year:  1986        PMID： 3961501     DOI： 10.1126/science.3961501

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


  36 in total

1.  Identification and characterization of a lysosomal transporter for small neutral amino acids.

Authors:  C Sagné; C Agulhon; P Ravassard; M Darmon; M Hamon; S El Mestikawy; B Gasnier; B Giros
Journal:  Proc Natl Acad Sci U S A       Date:  2001-06-05       Impact factor: 11.205

2.  Neutral-sugar transport by rat liver lysosomes.

Authors:  A J Jonas; P Conrad; H Jobe
Journal:  Biochem J       Date:  1990-12-01       Impact factor: 3.857

Review 3.  Molecular physiology and pathophysiology of lysosomal membrane transporters.

Authors:  C Sagné; B Gasnier
Journal:  J Inherit Metab Dis       Date:  2008-04-15       Impact factor: 4.982

4.  Derived structure of the putative sialic acid transporter from Escherichia coli predicts a novel sugar permease domain.

Authors:  J Martinez; S Steenbergen; E Vimr
Journal:  J Bacteriol       Date:  1995-10       Impact factor: 3.490

5.  The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

Authors:  L Haataja; J Schleutker; A P Laine; M Renlund; M L Savontaus; C Dib; J Weissenbach; L Peltonen; P Aula
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

6.  Nephrosis in two siblings with infantile sialic acid storage disease.

Authors:  W Sperl; W Gruber; J Quatacker; L Monnens; W Thoenes; F M Fink; E Paschke
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

7.  N-acetyl-D-glucosamine countertransport in lysosomal membrane vesicles.

Authors:  A J Jonas; H Jobe
Journal:  Biochem J       Date:  1990-05-15       Impact factor: 3.857

8.  Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

Authors:  J Schleutker; P Sistonen; P Aula
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

9.  Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.

Authors:  H J Blom; H C Andersson; R Seppala; F Tietze; W A Gahl
Journal:  Biochem J       Date:  1990-06-15       Impact factor: 3.857

10.  The sialic acid residue of exogenous GM1 ganglioside is recycled for biosynthesis of sialoglycoconjugates in rat liver.

Authors:  R Ghidoni; M Trinchera; S Sonnino; V Chigorno; G Tettamanti
Journal:  Biochem J       Date:  1987-10-01       Impact factor: 3.857
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