geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1


, : Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1. Human Mutation 27(3): 292-292

Nine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.Ala275Asn, and p.Leu310_311insLeu) of which nine were novel. In one patient we did not detect mutations. Using a heterologous system, three new missense variants (p.Glu202Lys, p.Ser269Tyr, and p.Ala275Asn) and a single leucine insertion (p.Leu310insLeu)--lying in a stretch of seven leucines--were functionally assayed by determining total protein levels and mutant protein expression at the plasma membrane. No correlation was observed between mutation, clinical features, and plasma membrane expression of mutant protein.

US$19.90

PMID: 16470554

DOI: 10.1002/humu.9407


Other references

Danjo, Y.; Gipson, I.K., 2002: Specific transduction of the leading edge cells of migrating epithelia demonstrates that they are replaced during healing. As wounds in stratified epithelia close, the numbers of cells at the leading edge of migration decreases. It is not known whether cells at the leading edge are continually replaced or whether some retain their position at the leading edge over tim...

Connes R., 1967: Defense reactions of the sponge tethya lyncurium against microorganisms and the amphipod leucothoe spinicarpa. Vie et Milieu 18(2A): 281-289

Strand, O.E., 1976: Plumeless thistle - an increasing problem in Minnesota pastures - identification and control. Plumeless thistle (Carduus acanthoides) is a vigorous competitor in Minnesota pastures, in some forage crops and on non-cropped land. Control with 2,4-D and some other commonly used herbicides has not been acceptable when stands are at or beyond t...

Jones, H., 1951: Maintenance of Mental Health.: 5. Adolescence. Mental Health 10(2): 40-42

Shibata, Y.; Abiko, Y.; Ohno, H.; Araki, T.; Takiguchi, H., 1988: Recognition of acidic phospholipase A2 activity in plasma membranes of resident peritoneal macrophages. Phospholipase (PLase) activities in the plasma membrane of guinea pig peritoneal macrophages were studied, as these enzymes having such activity may be candidates for the release of arachidonic acid (AA) from phosphatidylcholine (PC). An AA releas...

Manning, R.; Fallani, A.; Ruggieri, S., 1995: Lipid changes in HL-60 cells on differentiation into macrophages by treatment with a phorbol ester. We studied changes in lipid composition of human promyelocytic leukemia cells (HL-60) on differentiation to the macrophage/monocytic lineage by treatment with the phorbol ester, 12-O-tetradecanoyl-phorbol-13-acetate. Differentiation was accompanie...

King, C.J.; Moseley, S.; Hindenlang, B.; Kuritz, P., 2008: Limited use of the human patient simulator by nurse faculty: an intervention program designed to increase use. Underutilization of human patient simulators (HPS) is not only a curricular issue but also a resource allocation problem. The study explored factors contributing to the limited HPS by faculty in a large ADN program. There is limited empirical evid...

Spector M., 1974: Lattice images of biological and synthetic apatites. Arceneaux, Claude J (Ed ) Proceedings Thirty-Second Annual Meeting, Electron Microscopy Society Of America St Louis, Mo , U S A , Aug 13-15, 575p Illus Claitor's Publishing Division: Baton Rouge, La , U S A 74-75

Sousa, R.S. de; Irigoyen, L.F., 1999: Experimental poisoning of cattle with Phalaris angusta (Gramineae). Eight, 6- to 8-month-old calves were assigned to 1 of 4 treatment groups. Group I calves were fed only P. angusta; group II were fed a mixture of 75% P. angusta and 25% oats (Avena sativa) and ryegrass (Lolium multiflorum); group III received 50%...

Amonriq, L., 1970: Analyse de lapprentissage latent de Scolopendra cingulata Latr Chilopodes a 1aide dun ordinateur 11130. C. r. hebd. Seanc. Acad. Sci., Paris, 271D 1642-1645