Mancini GMS - Search Results

1

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard; Engle EC, Verheijen FW, Doherty D, Mancini GMS. Dobyns WB, et al. Among authors: mancini gms. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21. Am J Hum Genet. 2018. PMID: 30471716 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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