| STED microscopy reveals that synaptotagmin remains clustered after synaptic vesicle exocytosis. Willig K.I., Rizzoli S.O., Westphal V., Jahn R., Hell S.W.
Nature 440:935-939(2006) · Mapped (5) |
| Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality. DeRossi C., Bode L., Eklund E.A., Zhang F., Davis J.A., Westphal V., Wang L., Borowsky A.D., Freeze H.H.
J. Biol. Chem. 281:5916-5927(2006) · Mapped (4) |
| Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic. Westphal V., Xiao M., Kwok P.-Y., Freeze H.H.
Hum. Mutat. 22:420-421(2003) · UniProtKB (1) |
| Molecular cloning, gene organization, and expression of mouse Mpi encoding phosphomannose isomerase. Davis J.A., Wu X.H., Wang L., DeRossi C., Westphal V., Wu R., Alton G., Srikrishna G., Freeze H.H.
Glycobiology 12:435-442(2002) · UniProtKB (1) |
| A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Westphal V., Kjaergaard S., Schollen E., Martens K., Gruenewald S., Schwartz M., Matthijs G., Freeze H.H.
Hum. Mol. Genet. 11:599-604(2002) · UniProtKB (1) · Mapped (2) |
| Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. Westphal V., Kjaergaard S., Davis J.A., Peterson S.M., Skovby F., Freeze H.H.
Mol. Genet. Metab. 73:77-85(2001) · UniProtKB (1) |
| Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. Westphal V., Enns G.M., McCracken M.F., Freeze H.H.
Mol. Genet. Metab. 73:71-76(2001) · UniProtKB (1) |
| Functional differences in yeast protein disulfide isomerases. Norgaard P., Westphal V., Tachibana C., Alsoe L., Holst B., Winther J.R.
J. Cell Biol. 152:553-562(2001) · Mapped (5) |
| Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. Westphal V., Murch S., Kim S., Srikrishna G., Winchester B., Day R., Freeze H.H.
Am. J. Pathol. 157:1917-1925(2000) · UniProtKB (1) · Mapped (1) |
| Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Matthijs G., Schollen E., Bjursell C., Erlandson A., Freeze H., Imtiaz F., Kjaergaard S., Martinsson T., Schwartz M., Seta N. et al.
Hum. Mutat. 16:386-394(2000) · UniProtKB (1) |
| Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. Westphal V., Schottstaedt C., Marquardt T., Freeze H.H.
Mol. Genet. Metab. 70:219-223(2000) · UniProtKB (1) · Mapped (1) |
| Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie). Kim S., Westphal V., Srikrishna G., Mehta D.P., Peterson S., Filiano J., Karnes P.S., Patterson M.C., Freeze H.H.
J. Clin. Invest. 105:191-198(2000) · UniProtKB (1) |
| Functional properties of the two redox-active sites in yeast protein disulphide isomerase in vitro and in vivo. Westphal V., Darby N.J., Winther J.R.
J. Mol. Biol. 286:1229-1239(1999) · Mapped (1) |
| Kinetic analysis of the mechanism and specificity of protein-disulfide isomerase using fluorescence-quenched peptides. Westphal V., Spetzler J.C., Meldal M., Christensen U., Winther J.R.
J. Biol. Chem. 273:24992-24999(1998) · Mapped (1) |
| Multiple pathways for vacuolar sorting of yeast proteinase A. Westphal V., Marcusson E.G., Winther J.R., Emr S.D., van den Hazel H.B.
J. Biol. Chem. 271:11865-11870(1996) · UniProtKB (3) |
