Literature DB >> 1959930

Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.

J Schleutker1, L Haataja, M Renlund, L Puhakka, J Viitala, L Peltonen, P Aula.   

Abstract

Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows that lamp genes are not involved in Salla disease. The lamp genes were localized, using Southern hybridization in hamster--human hybrid cell panels, to chromosomes 13 (lamp A) and X (lamp B).

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Year:  1991        PMID： 1959930     DOI： 10.1007/bf00204936

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


  11 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encoded by genes localized to chromosome 13q34 and chromosome Xq24-25, respectively.

Authors:  M G Mattei; J Matterson; J W Chen; M A Williams; M Fukuda
Journal:  J Biol Chem       Date:  1990-05-05       Impact factor: 5.157

3.  A primary genetic map of chromosome 13q.

Authors:  M Leppert; W Cavenee; P Callahan; T Holm; P O'Connell; K Thompson; G M Lathrop; J M Lalouel; R White
Journal:  Am J Hum Genet       Date:  1986-10       Impact factor: 11.025

4.  Molecular cloning of cDNAs encoding lamp A, a human lysosomal membrane glycoprotein with apparent Mr approximately equal to 120,000.

Authors:  J Viitala; S R Carlsson; P D Siebert; M Fukuda
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

5.  "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

6.  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

7.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

8.  Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.

Authors:  M Renlund; P T Kovanen; K O Raivio; P Aula; C G Gahmberg; C Ehnholm
Journal:  J Clin Invest       Date:  1986-02       Impact factor: 14.808

9.  Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland.

Authors:  P Aula; M Renlund; K O Raivio; S L Koskela
Journal:  J Ment Defic Res       Date:  1986-12

10.  Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides.

Authors:  G M Mancini; H R de Jonge; H Galjaard; F W Verheijen
Journal:  J Biol Chem       Date:  1989-09-15       Impact factor: 5.157
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  1 in total

1.  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
  1 in total

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