Mancini GM - Search Results

1

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM. Meuwissen ME, et al. Among authors: mancini gm. J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20. J Exp Med. 2016. PMID: 27325888 Free PMC article. Clinical Trial.

2

Nucleotide-activated chloride channels in lysosomal membranes.

Tilly BC, Mancini GM, Bijman J, van Gageldonk PG, Beerens CE, Bridges RJ, de Jonge HR, Verheijen FW. Tilly BC, et al. Among authors: mancini gm. Biochem Biophys Res Commun. 1992 Aug 31;187(1):254-60. doi: 10.1016/s0006-291x(05)81485-8. Biochem Biophys Res Commun. 1992. PMID: 1325789

3

Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection.

Mancini GM, Hu P, Verheijen FW, van Diggelen OP, Janse HC, Kleijer WJ, Beemer FA, Jennekens FG. Mancini GM, et al. Eur J Pediatr. 1992 Aug;151(8):590-5. doi: 10.1007/BF01957729. Eur J Pediatr. 1992. PMID: 1505579

4

Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes.

Mancini GM, Beerens CE, Galjaard H, Verheijen FW. Mancini GM, et al. Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6609-13. doi: 10.1073/pnas.89.14.6609. Proc Natl Acad Sci U S A. 1992. PMID: 1631163 Free PMC article.

5

Sialic acid storage disorders: observations on clinical and biochemical variation.

Mancini GM, Verheijen FW, Beerens CE, Renlund M, Aula P. Mancini GM, et al. Dev Neurosci. 1991;13(4-5):327-30. doi: 10.1159/000112181. Dev Neurosci. 1991. PMID: 1817039 Review.

6

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Mancini GM, Beerens CE, Aula PP, Verheijen FW. Mancini GM, et al. J Clin Invest. 1991 Apr;87(4):1329-35. doi: 10.1172/JCI115136. J Clin Invest. 1991. PMID: 2010546 Free PMC article.

7

Photoaffinity labeling of a bacterial sialidase with an aryl azide derivative of sialic acid.

van der Horst GT, Mancini GM, Brossmer R, Rose U, Verheijen FW. van der Horst GT, et al. Among authors: mancini gm. J Biol Chem. 1990 Jul 5;265(19):10801-4. J Biol Chem. 1990. PMID: 2358439 Free article.

8

Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses.

Mancini GM, Beerens CE, Verheijen FW. Mancini GM, et al. J Biol Chem. 1990 Jul 25;265(21):12380-7. J Biol Chem. 1990. PMID: 2373697 Free article.

9

Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides.

Mancini GM, de Jonge HR, Galjaard H, Verheijen FW. Mancini GM, et al. J Biol Chem. 1989 Sep 15;264(26):15247-54. J Biol Chem. 1989. PMID: 2768261 Free article.

10

Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency.

Galjaard H, Willemsen R, Hoogeveen AT, Mancini GM, Palmeri S, Verheijen FW, D'Azzo A. Galjaard H, et al. Among authors: mancini gm. Enzyme. 1987;38(1-4):132-43. doi: 10.1159/000469199. Enzyme. 1987. PMID: 3126043 Review.

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