Disease relevance of GYLTL1B

• These results suggest that GYLTL1B may be a candidate gene for muscular dystrophy and that its overexpression could compensate for the deficiency of both LARGE and other glycosyltransferases [1].
• Therefore, placebo recipients in a large 2-year rotavirus vaccine trial conducted across the United States were followed to determine the protection afforded by natural rotavirus infection [2].
• Bone grafts were repositioned within the orbit in 2 patients with large 2-wall blow-out fractures [3].
• At operation, the patient was found to have a necrotic transverse colon with a large 2 cm gallstone compressing her middle colic vessels [4].

High impact information on GYLTL1B

• The unambiguous assignments deduced from the 15N labeling studies have been verified from an independent labeling strategy where individual guanines in the internal loop have been replaced, one at a time, by inosines and assignments were made on the basis of the large 2 ppm downfield shift of the guanine imino protons on inosine substitution [5].
• RT-PCR, dot-blot, and northern analysis indicated that LARGE2 has a more restricted tissue-expression profile than LARGE1 [6].
• Overexpression of LARGE2 in mouse C2C12 myoblasts results in increased glycosylation of alpha-DG accompanied by an increase in laminin binding [6].
• This is the case of a large 2 x 1.5 cm adrenal tumor demonstrated on CT scan that was proven biochemically and surgically to be an aldosteronoma and that did not concentrate 6-beta(131I)-iodo-methyl-19-norcholesterol (NP-59) [7].
• To evaluate whether these in vitro data can be extrapolated in vivo, a large 2 phase trial has been initiated in the Netherlands in which the combination of CsA with chloroquine is evaluated in patients with RA [8].

Anatomical context of GYLTL1B

• Whereas scanning electron microscopy is more commonly employed to record surface topography, it can be used to examine freeze-fracture planes within the myocardium and, using heavy-metal staining and back-scattered electron imaging, to examine large 2-mu-thick resin-embedded sections through the heart [9].

Analytical, diagnostic and therapeutic context of GYLTL1B

• Proteins (150 micrograms) from biopsies (1-3 mg wet weight) were first separated by isoelectric focusing, then applied to large 2-dimensional gels [10].

References