Gene Review:
ARSA - arylsulfatase A
Homo sapiens
Synonyms:
ASA, Arylsulfatase A, Cerebroside-sulfatase
- High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy. Kreysing, J., Bohne, W., Bösenberg, C., Marchesini, S., Turpin, J.C., Baumann, N., von Figura, K., Gieselmann, V. Am. J. Hum. Genet. (1993)
- Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. Marcão, A.M., Wiest, R., Schindler, K., Wiesmann, U., Weis, J., Schroth, G., Miranda, M.C., Sturzenegger, M., Gieselmann, V. Arch. Neurol. (2005)
- Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type. Ługowska, A., Szymańska, K., Kmiec, T., Tarczyńska, I., Czartoryska, B., Tylki-Szymańska, A., Jurkiewicz, E. J. Appl. Genet. (2005)
- Molecular genetics of metachromatic leukodystrophy. Gieselmann, V., Zlotogora, J., Harris, A., Wenger, D.A., Morris, C.P. Hum. Mutat. (1994)
- Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. Draghia, R., Letourneur, F., Drugan, C., Manicom, J., Blanchot, C., Kahn, A., Poenaru, L., Caillaud, C. Hum. Mutat. (1997)
- Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome. Bognar, S.K., Furac, I., Kubat, M., Cosović, C., Demarin, V. Arch. Med. Res. (2002)
- Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy. Gottfried, J.A., Mayer, S.A., Shungu, D.C., Chang, Y., Duyn, J.H. Neurology (1997)
- Molecular basis of different forms of metachromatic leukodystrophy. Polten, A., Fluharty, A.L., Fluharty, C.B., Kappler, J., von Figura, K., Gieselmann, V. N. Engl. J. Med. (1991)
- In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. Consiglio, A., Quattrini, A., Martino, S., Bensadoun, J.C., Dolcetta, D., Trojani, A., Benaglia, G., Marchesini, S., Cestari, V., Oliverio, A., Bordignon, C., Naldini, L. Nat. Med. (2001)
- Effect of ascorbic acid on arylsulfatase activities and sulfated proteoglycan metabolism in chondrocyte cultures. Schwartz, E.R., Adamy, L. J. Clin. Invest. (1977)
- Arylsulfatase B of human lung. Isolation, characterization, and interaction with slow-reacting substance of anaphylaxis. Wasserman, S.I., Austen, K.F. J. Clin. Invest. (1976)
- An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A. Honke, K., Kobayashi, T., Fujii, T., Gasa, S., Xu, M., Takamaru, Y., Kondo, R., Tsuji, S., Makita, A. Hum. Genet. (1993)
- A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. Kafert, S., Heinisch, U., Zlotogora, J., Gieselmann, V. Hum. Genet. (1995)
- Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy). deGasperi, R., Raghavan, S.S., Sosa, M.G., Kolodny, E.H., Carrier, C., Rubenstein, P., Peters, C., Wagner, J., Kurtzberg, J., Krivit, W. Bone Marrow Transplant. (2000)
- Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays. Tempesta, M.C., Levade, T., Salvayre, R. Clin. Chim. Acta (1991)
- Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. Kappler, J., von Figura, K., Gieselmann, V. Ann. Neurol. (1992)
- An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy. Harvey, J.S., Nelson, P.V., Carey, W.F., Robertson, E.F., Morris, C.P. Hum. Mutat. (1993)
- The genes for the highly homologous Ca(2+)-binding proteins oncomodulin and parvalbumin are not linked in the human genome. Ritzler, J.M., Sawhney, R., Geurts van Kessel, A.H., Grzeschik, K.H., Schinzel, A., Berchtold, M.W. Genomics (1992)
- Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22. Geurts van Kessel, A.H., Westerveld, A., de Groot, P.G., Meera Khan, P., Hagemeijer, A. Cytogenet. Cell Genet. (1980)
- Three-dimensional structures of sulfatases. Ghosh, D. Meth. Enzymol. (2005)
- Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis. von Bülow, R., Schmidt, B., Dierks, T., von Figura, K., Usón, I. J. Mol. Biol. (2001)
- Insulin-like growth factors I and II stimulate endocytosis but do not affect sorting of lysosomal enzymes in human fibroblasts. Braulke, T., Tippmer, S., Chao, H.J., von Figura, K. J. Biol. Chem. (1990)
- Characterization of iodothyronine sulfatase activities in human and rat liver and placenta. Kester, M.H., Kaptein, E., Van Dijk, C.H., Roest, T.J., Tibboel, D., Coughtrie, M.W., Visser, T.J. Endocrinology (2002)
- Cosmid-derived transcripts and sequence tags mapped to three subregions of human chromosome 22. Pusch, C., Müllenbach, R., Gött, P., Schmitt, H., Wang, Z., Roe, B., Blin, N. Gene (1996)
- Arylsulfatase D gene in Xp22.3 encodes two protein isoforms. Urbitsch, P., Salzer, M.J., Hirschmann, P., Vogt, P.H. DNA Cell Biol. (2000)
- Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity. Berger, J., Gmach, M., Mayr, U., Molzer, B., Bernheimer, H. Hum. Mutat. (1999)
- Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene. Pastor-Soler, N.M., Rafi, M.A., Hoffman, J.D., Hu, D., Wenger, D.A. Hum. Mutat. (1994)
- Influences of breathing patterns on respiratory sinus arrhythmia in humans during exercise. Blain, G., Meste, O., Bermon, S. Am. J. Physiol. Heart Circ. Physiol. (2005)
- Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. Lugowska, A., Amaral, O., Berger, J., Berna, L., Bosshard, N.U., Chabas, A., Fensom, A., Gieselmann, V., Gorovenko, N.G., Lissens, W., Mansson, J.E., Marcao, A., Michelakakis, H., Bernheimer, H., Ol'khovych, N.V., Regis, S., Sinke, R., Tylki-Szymanska, A., Czartoryska, B. Mol. Genet. Metab. (2005)
- Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts. Consiglio, A., Martino, S., Dolcetta, D., Cusella, G., Conese, M., Marchesini, S., Benaglia, G., Wrabetz, L., Orlacchio, A., Déglon, N., Aebischer, P., Severini, G.M., Bordignon, C. J. Neurol. Sci. (2007)