Results 1 to 10 of about 620 (115)

Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases. [PDF]

Proceedings of the National Academy of Sciences, 1983
Arylsulfatase A polypeptides were examined in cultured fibroblasts from a patient with juvenile metachromatic leukodystrophy and three patients with the adult form of the disease, with the aid of metabolic labeling and immunoprecipitation. The mutant cells were severely deficient in the arylsulfatase polypeptides.
K, von Figura, F, Steckel, A, Hasilik
openaire   +4 more sources

Exploration of phytoconstituents of Medhya Rasayana herbs to identify potential inhibitors for cerebroside sulfotransferase through high-throughput screening [PDF]

Frontiers in Molecular Biosciences
Cerebroside sulfotransferase (CST) is a key enzyme in sulfatide biosynthesis and regulation of the myelin sheath in the nervous system. To counter sulfatide accumulation with the deficiency of aryl sulfatase A, CST is considered a target protein in ...
Nivedita Singh, Anil Kumar Singh
doaj   +2 more sources

Activator protein required for the enzymatic hydrolysis of cerebroside sulfate. Deficiency in urine of patients affected with cerebroside sulfatase activator deficiency and identity with activators for the enzymatic hydrolysis of GM1 ganglioside and globotriaosylceramide.

Journal of Biological Chemistry, 1985
Urine specimens from two sibs affected with cerebroside sulfatase activator deficiency were examined to ascertain whether the deficiency of the supplementary activator protein required for the enzymatic hydrolysis of cerebroside sulfate was also evident in urine.
S C, Li, H, Kihara, S, Serizawa, Y T, Li, A L, Fluharty, J S, Mayes, L J, Shapiro   +6 more
openaire   +3 more sources

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.

American journal of human genetics, 1977
Very low levels of arylsulfatase A (ASA) have been found in the leukocytes of healthy members of a metachromatic leukodystrophy (MLD) family. The cerebroside sulfate sulfatase (CSS) activities in the same individuals are about 10% of the control level. Arguments favoring a dominant mutation different from that of classical MLD are presented.
G, Dubois, K, Harzer, N, Baumann
openaire   +2 more sources

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia

Clinical Genetics, Volume 103, Issue 1, Page 45-52, January 2023., 2023
We describe the first patient with biallelic loss‐of‐function variants in the SLC13A1 gene, encoding a renal and intestinal sulfate transporter. The consequential loss of renal sulfate reabsorption leads to hypersulfaturia and hyposulfatemia which is associated with a mild Spondylo‐Epi‐Metaphyseal skeletal Dysplasia. Abstract Sulfate is the fourth most
Jiddeke M. van de Kamp, Arend Bökenkamp, Desiree E. C. Smith, Mirjam M. C. Wamelink, Erwin E. W. Jansen, Eduard A. Struys, Quinten Waisfisz, Marieke Verkleij, Michaela F. Hartmann, Rong Wang, Stefan A. Wudy, Chiara Paganini, Antonio Rossi, Martijn J. J. Finken   +13 more
wiley   +1 more source

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy

JIMD Reports, Volume 63, Issue 2, Page 162-167, March 2022., 2022
Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood spots (DBS), and tissues of patients with MLD.
Francyne Kubaski, Zackary M. Herbst, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Franciele B. Trapp, Rejane Gus, Alice B. O. Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V. M. B. Wilke, Thiago Oliveira, Jose A. A. Magalhães, Roberto Giugliani   +14 more
wiley   +1 more source

Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism

Molecular Genetics &Genomic Medicine, Volume 8, Issue 11, November 2020., 2020
We identified an ARSA c.925G>A homozygous mutation from a Chinese late‐infantile MLD patient, the first report of this mutation in east Asia. Overexpression cell models of wild‐type and mutated ARSA genes were constructed to compare the biological changes caused by candidate pathogenic mutations.
Liyuan Guo, Bo Jin, Yidan Zhang, Jing Wang   +3 more
wiley   +1 more source

Role of sulfatide in normal and pathological cells and tissues

Journal of Lipid Research, 2012
Sulfatide is 3-O-sulfogalactosylceramide that is synthesized by two transferases (ceramide galactosyltransferase and cerebroside sulfotransferase) from ceramide and is specifically degraded by a sulfatase (arylsulfatase A). Sulfatide is a multifunctional
Tadanobu Takahashi, Takashi Suzuki
doaj   +1 more source

Ganglioside Biochemistry

International Scholarly Research Notices, Volume 2012, Issue 1, 2012., 2012
Gangliosides are sialic acid‐containing glycosphingolipids. They occur especially on the cellular surfaces of neuronal cells, where they form a complex pattern, but are also found in many other cell types. The paper provides a general overview on their structures, occurrence, and metabolism. Key functional, biochemical, and pathobiochemical aspects are
Thomas Kolter, H. Itoh, B. Penke
wiley   +1 more source

Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. [PDF]

Am J Hum Genet, 1981
Stevens RL, Fluharty AL, Kihara H, Kaback MM, Shapiro LJ, Marsh B, Sandhoff K, Fischer G.   +7 more
europepmc   +1 more source