Literature DB >> 3733077

Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane.

G M Mancini, F W Verheijen, H Galjaard.   

Abstract

To study the biochemical defect underlying N-acetylneuraminic acid (NANA) storage disorders (NSD), a tritium-labeled NANA-methylester was prepared and its metabolism was studied in normal and mutant human fibroblasts. The uptake of methylester, its conversion into free NANA, and the release of free NANA was studied in lysosome-enriched fractions. In three clinically different types of NSD accumulation of free NANA was observed and the half-life of this compound was significantly increased. Our observations indicate the existence of a transport system for NANA across the lysosomal membrane, which is deficient in all variants of NSD.

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Year:  1986        PMID： 3733077     DOI： 10.1007/bf00401229

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

1.  Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.

Authors:  M Renlund; P Aula; K O Raivio; S Autio; K Sainio; J Rapola; S L Koskela
Journal:  Neurology       Date:  1983-01       Impact factor: 9.910

2.  "Salla disease": a new lysosomal storage disorder.

Authors:  P Aula; S Autio; K O Raivio; J Rapola; C J Thodén; S L Koskela; I Yamashina
Journal:  Arch Neurol       Date:  1979-02

3.  N-Acetylneuraminic acid storage disease.

Authors:  J Baumkötter; M Cantz; K Mendla; W Baumann; H Friebolin; J Gehler; J Spranger
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Characterization of storage material in cultured fibroblasts by specific lectin binding in lysosomal storage diseases.

Authors:  I Virtanen; P Ekblom; P Laurila; S Nordling; K O Raivio; P Aula
Journal:  Pediatr Res       Date:  1980-11       Impact factor: 3.756

5.  N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease.

Authors:  L W Hancock; A L Horwitz; G Dawson
Journal:  Biochim Biophys Acta       Date:  1983-10-04

6.  Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.

Authors:  W A Gahl; N Bashan; F Tietze; I Bernardini; J D Schulman
Journal:  Science       Date:  1982-09-24       Impact factor: 47.728

7.  Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

Authors:  R E Stevenson; M Lubinsky; H A Taylor; D A Wenger; R J Schroer; P M Olmstead
Journal:  Pediatrics       Date:  1983-10       Impact factor: 7.124

8.  Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

Authors:  D S Rosenblatt; A Hosack; N V Matiaszuk; B A Cooper; R Laframboise
Journal:  Science       Date:  1985-06-14       Impact factor: 47.728

9.  Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.

Authors:  G H Thomas; L W Reynolds; C S Miller
Journal:  Pediatr Res       Date:  1985-05       Impact factor: 3.756

10.  Accumulation of amino acids by lysosomes incubated with amino acid methyl esters.

Authors:  J P Reeves
Journal:  J Biol Chem       Date:  1979-09-25       Impact factor: 5.157
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  12 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.  Infantile sialic acid storage disease in two siblings.

Authors:  A Cooper; I B Sardharwalla; M Thornley; K P Ward
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Authors:  G M Mancini; C E Beerens; P P Aula; F W Verheijen
Journal:  J Clin Invest       Date:  1991-04       Impact factor: 14.808

4.  Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

Authors:  R Seppala; V P Lehto; W A Gahl
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

5.  Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.

Authors:  G M Mancini; C E Beerens; H Galjaard; F W Verheijen
Journal:  Proc Natl Acad Sci U S A       Date:  1992-07-15       Impact factor: 11.205

Review 6.  Lysosomal transport disorders.

Authors:  G M Mancini; A C Havelaar; F W Verheijen
Journal:  J Inherit Metab Dis       Date:  2000-05       Impact factor: 4.982

7.  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

8.  Free sialic acid storage disease. A new Italian case.

Authors:  A Fois; P Balestri; M A Farnetani; G M Mancini; P Borgogni; M A Margollicci; M Molinelli; C Alessandrini; R Gerli
Journal:  Eur J Pediatr       Date:  1987-03       Impact factor: 3.183

9.  Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease.

Authors:  K Mendla; J Baumkötter; C Rosenau; B Ulrich-Bott; M Cantz
Journal:  Biochem J       Date:  1988-02-15       Impact factor: 3.857

10.  Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

Authors:  G M Mancini; P Hu; F W Verheijen; O P van Diggelen; H C Janse; W J Kleijer; F A Beemer; F G Jennekens
Journal:  Eur J Pediatr       Date:  1992-08       Impact factor: 3.183
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