Results 11 to 20 of about 15,873 (215)

SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. [PDF]

Biochemical Journal, 2007
Sulfatases are enzymes that hydrolyse a diverse range of sulfate esters. Deficiency of lysosomal sulfatases leads to human diseases characterized by the accumulation of either GAGs (glycosaminoglycans) or sulfolipids. The catalytic activity of sulfatases
M. P. C.o.s.m.a., Cosma M. P., S. Pepe, Naldini, Luigi, Cosma, Maria Pia, FRALDI, ALESSANDRO, Pepe, Stefano, Naldini L., SETTEMBRE, CARMINE, BALLABIO, ANDREA, I. Visigalli, Visigalli I., Biffi, Alessandra, Biffi A., Ballabio A., Fraldi A., Nusco E., E. Nusco, Visigalli, Ilaria, A. Lombardi, Nusco, Edoardo, AURICCHIO, ALBERTO, Pepe S., Lombardi, Alessia, A. Biffi, Lombardi A., L. Naldini, Settembre C., Auricchio A., Fraldi A, Settembre C, Cosma MP, Biffi A, Ballabio A, Nusco E, Visigalli I, Lombardi A, Pepe S, Auricchio A, NALDINI , LUIGI   +39 more
core   +5 more sources

Kinetic and optical properties of a new probe for sulfatase activity assay

Data in Brief, 2017
A new probe for detecting sulfatase activity generated fluorescent N-methylisoindole when it was treated with sulfatase. Detailed synthetic procedures of reaction intermediates are described along with their spectral data.
Hey Young Yoon, Jong-In Hong
doaj   +2 more sources

Multiple sulfatase deficiency: Catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs [PDF]

Proceedings of the National Academy of Sciences, 1992
Multiple sulfatase deficiency (MSD) is an inherited lysosomal storage disease characterized by the deficiency of at least seven sulfatases. The basic defect in Mp. is thought to be in a post-translational modification common to all sulfatases.
Rommerskirch, Winfried, Figura, Kurt von
core   +5 more sources

Multiple Sulfatase Deficiency

Pediatric Neurology Briefs, 1988
A 9-year-old girl with a phenotype similar to a mucopolysaccharidosis (MPS) and a clinical history characteristic of late infantile metachromatic leukodystrophy (MLD) is reported from the Department of Neurology, National Defense Medical Center, Taipei ...
J Gordon Millichap
doaj   +3 more sources

DIAGNOSIS AND TREATMENT OF MULTIPLE SULFATASE DEFICIENCY AND OTHER SULFATASE DEFICIENCY

, 2004
MULTIPLE SULFATASE ...
BALLABIO, ANDREA, AND COSMA M. P., SCHMIDT B. DIERKS T, HEARTLEIN M. W., VON FIGURA K.   +4 more
core   +7 more sources

Multiple sulfatase deficiency: A case series of four children

Annals of Indian Academy of Neurology, 2013
Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational ...
Faruk Incecik, Mehmet N Ozbek, Serdal Gungor, Stefano Pepe, Ozlem M Herguner, Neslihan Onenli Mungan, Sabiha Gungor, Sakir Altunbasak   +7 more
doaj   +3 more sources

Cysteine Thioaldehydes: Photolytic Generation, Reactivity, and Biological Implications. [PDF]

Angew Chem Int Ed Engl
Photolysis of cysteine phenacylsulfides bearing non‐conjugating electron‐withdrawing substituents leads to high conversions into cysteine thioaldehydes through a Norrish type‐II pathway. This methodology enabled the study of the aqueous reactivity of these important biosynthetic intermediates, which, depending on peptide sequence, pH and buffer ...
Karthika A, Murray M, Palop G, Keane LJ, McArdle P, Yates NDJ, Spicer CD, Parkin A, Fascione MA, Myers EL.   +9 more
europepmc   +3 more sources

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship [PDF]

Human Molecular Genetics, 2005
Sulfatases catalyze the hydrolysis of sulfate ester bonds from a wide variety of substrates. Several human inherited diseases are caused by the deficiency of individual sulfatases, while in patients with multiple sulfatase deficiency mutations in the Sulfatase Modifying Factor 1 (SUMF1) gene cause a defect in the post-translational modification of a ...
SARDIELLO M., ANNUNZIATA I., ROMA G., BALLABIO, ANDREA   +3 more
openaire   +4 more sources

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

Dual aromatase-steroid sulfatase inhibitors

, 2007
By introducting the steroid sulfatase inhibitory pharmacophore into aromatase inhibitor 1 (YM511), two series of single agent dual aromatase-sulfatase inhibitors (DASIs) were generated. The best DASIs in vitro (JEG-3 cells) are 5, (IC50(aromatase) = 0.82
Chander, S.K., Purohit, A., Mahon, M.F., Bubert, C., Smith, A., Potter, B.V.L., Reed, M.J., Sutcliffe, O.B., Woo, L.W.L.   +8 more
core   +3 more sources