Mancini GMS - Search Results

1

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Magini P, et al. Among authors: mancini gms. Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5. Am J Hum Genet. 2019. PMID: 31495489 Free PMC article.

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. 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. 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. Enzyme. 1987;38(1-4):132-43. doi: 10.1159/000469199. Enzyme. 1987. PMID: 3126043 Review.

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