Induction of Tolerance to Human Arylsulfatase A in a Mouse Model of Metachromatic Leukodystrophy
نویسندگان
چکیده
منابع مشابه
Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
OBJECTIVE To determine the clinical symptoms in adult metachromatic leukodystrophy and in adult pseudodeficiency for arylsulfatase A. DESIGN Case series. SETTING University hospital. PATIENTS Twenty-five adult patients with very low arylsulfatase A activity. RESULTS In 13 patients, a diagnosis of adult metachromatic leukodystrophy was made. The main symptoms were dementia, behavioral ab...
متن کاملMetachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.
Fibroblasts cultured from the skin of a patient with metachromatic leukodystrophy have been found to manifest the biochemical defect of this inborn error of metabolism, a deficiency of arylsulfatase A. Diseased cells had less than five per cent of normal arylsulfatase-A activity, while activities of other lysosomal enzymes-including arylsulfatase B, beta-galactosidase, beta-glucuronidase, and b...
متن کاملPhenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy.
Metachromatic leukodystrophy is a lysosomal sphingolipid storage disorder caused by the deficiency of arylsulfatase A. The disease is characterized by progressive demyelination, causing various neurologic symptoms. Since no naturally occurring animal model of the disease is available, we have generated arylsulfatase A-deficient mice. Deficient animals store the sphingolipid cerebroside-3-sulfat...
متن کاملPseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Metachromatic leukodystrophy is a hereditary neurodegenerative disorder in man associated with deficient arylsulfatase-A activity (aryl-sulfate sulfohydrolase, EC 3.1.6.1). The same enzyme deficiency has been noted in clinically normal individuals, a condition known as pseudo arylsulfatase-A deficiency. With a nonselective method, somatic cell hybrids were obtained from cultured fibroblasts of ...
متن کاملA novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy.
To the Editor: Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder that is caused by a deficiency of the enzyme arylsulfatase A (ARSA). Toxic accumulation of sulfatides in myelin-producing cells of the central nervous system and peripheral nervous system (PNS) results in progressive demyelination. 1 The 3 major forms of MLD are late infantile–, juvenile-, and adult-onset MLD...
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ژورنال
عنوان ژورنال: Molecular Medicine
سال: 2007
ISSN: 1076-1551,1528-3658
DOI: 10.2119/2007-00063.matzner