Lysosomal Transport Disorders

Grazia MS Mancini, Erasmus University Medical Centre, Rotterdam, The Netherlands
Frans W Verheijen, Erasmus University Medical Centre, Rotterdam, The Netherlands

Published online: January 2006

DOI: 10.1038/npg.els.0006110

The lysosomal membrane contains several types of transporter including solute carriers, pumps and channels. Genetic disorders of these transporters cause many different neurological and visceral diseases, ranging from developmental to degenerative disorders.

Keywords: lysosome; Niemann–Pick; cystinosis; sialic acid; osteopetrosis

 References
    Aula N, Salomaki P, Timonen R, et al. (2000) The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype–phenotype correlation. American Journal of Human Genetics 67(4): 832–840.
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    Fares H and Greenwald I (2001) Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Nature Genetics 28 (1): 64–68.
    book Gahl WA, Thoene JG and Schneider JA (2001) "Cystinosis a disorder of lysosomal membrane transport". In: Scriver C, Baudet A, Sly W and Valle D (eds.) The Metabolic and Molecular Basis of Inherited Disease, 8th ed. chap. 199, pp. 5085–5108. New York, NY: McGraw-Hill.
    Grosso S, Berardi R, Farnetani MA, et al. (2001) Multiple neuroendocrine disorder in Salla disease. Journal of Child Neurology 16(10): 775–777.
    Havelaar AC, Beerens CE, Mancini GM and Verheijen FW (1999) Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease. FEBS Letters 446(1): 65–68.
    Huzinger W and Geuze H (1996) Intracellular trafficking of lysosomal membrane proteins. Bioassay 18: 379–389.
    Kalatzis V, Cherqui S, Antignac C and Gasnier B (2001) Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter. EMBO Journal 20(21): 5940–5949.
    Kornak U, Kasper D, Bosl MR et al. (2001) Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104(2): 205–215.
    Mancini GM, Havelaar AC and Verheijen FW (2000) Lysosomal transport disorders. Journal of Inherited and Metabolic Disease 23(3): 278–292.
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    Pisoni RL, Park GY, Velilla VQ and Thoene JG (1995) Detection and characterization of a transport system mediating cysteamine entry into human fibroblast lysosomes. Specificity for aminoethylthiol and aminoethylsulfide derivatives. Journal of Biological Chemistry 270(3): 1179–1184.
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 Further Reading
    book Aula PP and Gahl WA (2001) "Disorders of free sialic acid storage". In: Scriver C, Baudet A, Sly W and Valle D (eds.) The Metabolic and Molecular Basis of Inherited Disease, 8th ed. chap. 200, pp. 5109–5120. New York, NY: McGraw-Hill
 Web Links
    ePath Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?db=OMIM
    ePath Chloride channel 7 (CLCN7); LocusID: 1186. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1186
    ePath Cystinosis, nephropathic (CTNS); LocusID: 1497. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1497
    ePath Niemann–Pick disease, type C1 (NPC1); LocusID: 4864. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4864
    ePath T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 (TCIRG1); LocusID: 10312. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=10312
    ePath Solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5); LocusID: 26503. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=26503
    ePath Chloride channel 7 (CLCN7); MIM number: 602727. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602727
    ePath Cystinosis, nephropathic (CTNS); MIM number: 606272. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606272
    ePath Niemann–Pick disease, type C1 (NPC1); MIM number: 257220. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?257220
    ePath T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 (TCIRG1); MIM number: 604592. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?604592
    ePath Solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5); MIM number: 604322. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?604322

Related Sub-Topics:

Cellular Transport | Cell Compartments and Cellular Organelles | Molecular Genetics of Common and Complex Disease | Specific Genetic Disorders
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Article Title: Lysosomal Transport Disorders
 
How to Cite close
Mancini, Grazia MS, and Verheijen, Frans W(Jan 2006) Lysosomal Transport Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006110]