Results 1 to 10 of about 616 (114)

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
core   +5 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
core   +5 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

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

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

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

Increased Cerebral Serum Amyloid A2 and Parameters of Oxidation in Arylsulfatase B (N-Acetylgalactosamine-4-Sulfatase)-Null Mice. [PDF]

J Alzheimers Dis Rep, 2023
Bhattacharyya S, Tobacman JK.
europepmc   +1 more source

Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review. [PDF]

Children (Basel), 2023
Schittkowski MP, Naxer S, Elabbasy M, Herholz L, Breitling V, Finglas A, Gärtner J, Schlotawa L.   +7 more
europepmc   +1 more source

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy. [PDF]

J Clin Invest
Ramachandran S, Ardinger J, Bu J, Ramos M, Guo L, Ghosh D, Hossain M, Chou SC, Chen Y, Wischhof E, Ayloo S, Trullo R, Luo Y, Hogestyn JM, DuBreuil DM, Crosier E, Flyer-Adams JG, Richards AM, Tsabar M, Gaglia G, Nass S, Nambiar B, Woodcock D, O'Riordan C, Tang Q, Elmer B, Zhang B, Goulet M, Mueller C.   +28 more
europepmc   +1 more source

Sulfation pathways in the maintenance of functional beta-cell mass and implications for diabetes. [PDF]

Essays Biochem
Mueller JW, Thomas P, Dalgaard LT, da Silva Xavier G.   +3 more
europepmc   +1 more source