Genes > ARSA >

References

These sources were used to develop the Genetics Home Reference gene summary on the ARSA gene.

Basic Neurochemistry (sixth edition, 1999): Lysosomal Disease
Cesani M, Capotondo A, Plati T, Sergi LS, Fumagalli F, Roncarolo MG, Naldini L, Comi G, Sessa M, Biffi A. Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy. Hum Mutat. 2009 Oct;30(10):E936-45. doi: 10.1002/humu.21093. PubMed citation
Entrez Gene
Essentials of Glycobiology (first edition, 1999): Glycosphingolipid Degradation
Gieselmann V, Krägeloh-Mann I. Metachromatic leukodystrophy--an update. Neuropediatrics. 2010 Feb;41(1):1-6. doi: 10.1055/s-0030-1253412. Epub 2010 Jun 22. Review. PubMed citation
Grossi S, Regis S, Rosano C, Corsolini F, Uziel G, Sessa M, Di Rocco M, Parenti G, Deodato F, Leuzzi V, Biancheri R, Filocamo M. Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. Hum Mutat. 2008 Nov;29(11):E220-30. doi: 10.1002/humu.20851. PubMed citation
Lugowska A, Płoski R, Włodarski P, Tylki-Szymańska A. Molecular bases of metachromatic leukodystrophy in Polish patients. J Hum Genet. 2010 Jun;55(6):394-6. doi: 10.1038/jhg.2010.25. Epub 2010 Mar 26. PubMed citation
OMIM: ARYLSULFATASE A
Poeppel P, Habetha M, Marcão A, Büssow H, Berna L, Gieselmann V. Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. FEBS J. 2005 Mar;272(5):1179-88. PubMed citation
Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin JC, Lefevre M, Olivier C, Tardieu S, Krivit W, Moser H, Moser A, Gieselmann V, Zalc B, Cox T, Reuner U, Tylki-Szymanska A, Aboul-Enein F, LeGuern E, Bernheimer H, Berger J. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. Neurology. 2006 Sep 12;67(5):859-63. PubMed citation
Shukla P, Vasisht S, Srivastava R, Gupta N, Ghosh M, Kumar M, Sharma R, Gupta AK, Kaur P, Kamate M, Gulati S, Kalra V, Phadke S, Singhi P, Dherai AJ, Kabra M. Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. J Neurol Sci. 2011 Feb 15;301(1-2):38-45. doi: 10.1016/j.jns.2010.11.007. Epub 2010 Dec 16. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources