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Heterozygote detection in MLD. allelic mutations at the ARA locus. Paper-3919394.
Here we report a 3-year old Iranian girl with an MLD-like presentation of MSD. Paper-8784765.
Here we report a 3-year old Iranian girl with an MLD-like presentation of MSD. Paper-8784765.
All the G3 patients and 5 G2 patients had MLD values less than or equal to 2 mm. Paper-11089760.
This report documents the value of cerebroside sulfatase assays in the in utero monitoring for MLD. Paper-2233450.
In mice, autoimmune diabetes can be induced with multiple low doses of streptozotocin ( MLD- STZ). Paper-12811277.
The clinical effectiveness of CPA alone in prostatic cancer has been shown to be equal to that of DES 1 mg tid. Paper-6840766.
Twenty-three percent of controls and ARA activities below the levels found in some obligate heterozygotes for MLD. Paper-3919394.
In this study, loss of MLD function was observed to abolish expression of ExoS RhoGAP activity in HeLa cells. Paper-13388874.
Structural requirements of MLD-containing disintegrins for functional interaction with alpha 4 beta 1 and alpha 9 beta1 integrins. Paper-10257110.
In comparison, the coefficients for the other parameters were r2 = 0.784 for the MLD, r2 = 0.071 for L, and r2 = 0.690 for CLD x L. Paper-6600966.
On the other hand, intrafamily analysis of ARA activity offers the possibility of accurately determining heterozygotes for MLD. Paper-3919394.
A control reaction in the absence of CPG2 demonstrated that the enzyme was necessary for rapid glutamate cleavage to give DES 1. Paper-12308164.
The diagnosis may be complicated because of arylsulfatase A pseudo-deficiencies and another cause of MLD, sphingolipid activator B deficiency. Paper-12730382.
The results demonstrated the potential of rhIL-11 in preventing MLD- STZ diabetes through enhancement of anti-inflammatory responses in islets. Paper-10410008.
The distributional pattern of sulfatide storage throughout the CNS of ASA(-/-) mice largely corresponds to data reported for human MLD. Paper-10857107.
We describe three novel mutations in the human arylsulfatase A gene in three patients with MLD, an autosomal recessive lysosomal storage disorder. Paper-9902168.
The desired DES-glutamate 5 was water-soluble and upon incubation with carboxypeptidase G2 ( CPG2) underwent carbamate cleavage to give DES 1. Paper-12308164.
For stented vessels the delta MLD was -0.61 +/- 0.33 mm in the heparin group versus -0.41 +/- 0.37 mm in the ATIII group (P < or = 0.06). Paper-916636.
In current smokers, %LAA in the upper lung field was augmented, while inspiratory MLD or HIST in the middle or lower lung field became more positive. Paper-8494945.
Gas-liquid chromatographic analysis of the octadecenymoates has been carried out on Carbowax 20M, DEGA, DEGS, FFAP and Silar 10C stationary phases. Paper-2696238.
Sixteen children of parents heterozygous for MLD had ARA activities which clearly categorized them as either homozygous affected, heterozygous, or normal. Paper-3919394.
In vivo, curcumin also prevented MLD- STZ, as revealed by sustained normoglycaemia, normal glucose clearance and maintained pancreatic GLUT2 levels. Paper-13056301.
This was attributed to inhibition of leukocyte infiltration, production of pro-inflammatory cytokines and islet cell apoptosis at day 14 of MLD- STZ. Paper-12765482.
This study examined the role of MKK3 signalling in an in vivo model of cytokine-dependent pancreatic injury induced by multiple low doses of streptozotocin ( MLD- STZ). Paper-12765482.
The cerebroside sulfate loading test in the presence of Hepes should be useful as a probe for arylsulfatase A dysfunction in atypical MLD fibroblasts. Paper-4511224.
The wide range of ARA activity found in controls and heterozygotes for MLD appeared to result from the presence of multiple allelic mutations at the ARA locus. Paper-3919394.
Specific T cell-dependent immune reactions and non-specific inflammatory damage induced by reactive oxygen species (ROS) are involved in the pathogenesis of MLD- STZ diabetes. Paper-12811277.
A fast and simple method for determination of sulfatides in the urine of patients with metachromatic leukodystrophy ( MLD, arylsulfatase A deficiency) has been developed. Paper-1862308.
Appropriate kinetic evaluations of MLD 18,962 established it to be a highly potent [inhibition constant (Ki) = 4.5 +/- 1.3 nM] irreversible inhibitor of human placental aromatase. Paper-4567127.
One mutation within the MLD (R56, R63, D70 mutated to N, RRD-->N) diminished plasma membrane localization and altered the cell rounding phenotype elicited by ExoS RhoGAP. Paper-13388874.
Screening for ASA activity in lymphocyte extracts of a random sample of 250 individuals revealed 7 individuals with enzyme level in the MLD heterozygote range or lower. Paper-4697753.
The product of the MLD gene is a member of the membrane fatty acid desaturase family: overexpression of MLD inhibits EGF receptor biosynthesis. Paper-1055593.
Cells from a fetus with low arylsulfatase A activity were able to cleave considerable amounts of sulfatide; enzyme assays performed postnatally suggest that the infant is heterozygous for MLD. Paper-2233450.
One of these mutations leads to a low ARA activity and when present in an individual who is heterozygous for MLD may lead to overlap of his total activity with that of some homozygous affected individuals. Paper-3919394.
In tissues of other patients with severe demyelinating diseases different from DDS and MLD, this galactolipid ratio was also found to be increased, especially in three patients with adrenoleukodystrophy. Paper-5741169.
In vitro, preincubation of isolated islets with ZnSO(4) prevented STZ-induced loss of beta-cell-function and in vivo, intraperitoneal pretreatment with ZnSO(4) prevented MLD- STZ-induced diabetes. Paper-12811277.
We estimated the three quantitative CT parameters including MLD (mean CT value), HIST (CT value with the most frequent appearance), and %LAA (relative area of low attenuation with CT values less than -912 HU). Paper-8494945.
A second group of dimeric disintegrins (VLO5 and EO5) had MLD and VGD motifs in their subunits and blocked the adhesion of the alpha4beta1 integrin to vascular cell adhesion molecule 1 with high selectivity. Paper-9744398.
The approach used and the results here presented may provide useful information for the study of other MLD patients, as well as new insights about the effect of mutations, such as C300F, in the structure/function of ARSA. Paper-1857125.
Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele. Paper-9902168.
The results indicated that at 4 weeks after angioplasty, the MLD, EELA, IELA and LA of TFPI group and rTFPI group were markedly greater than those of the control groups, and those in the combination group were even greater. Paper-13526431.
Time-lapse fluorescence microscopy of either UMCC cell line treated with DMSP-Coumarin revealed comparable extents and kinetics of SL uptake, further ruling out MRP-mediated effects on drug uptake. Paper-13961438.
We conclude that SL- induced apoptosis markedly overcomes or bypasses MRP-mediated drug resistance relevant to SCLC and may suggest a novel therapeutic approach to chemotherapy for these tumors. Paper-13961438.
The gas-liquid chromatographic behaviour of all the dimethylene interrupted methyl cis,cis-octadecadienoates was studied on polar (Carbowax 20M, FFAP, DEGA, DEGS and Silar 10C), semi-polar (XE-60) and non-polar (SE-30, OV-101 and Apiezon L) stationary phases. Paper-2454705.
CONCLUSION: Supraphysiologic ATIII levels in combination with heparin inhibits the reduction in MLD in coronary arteries subjected to oversized balloon injury and demonstrates a beneficial trend in arteries subjected to oversized stent injury. Paper-916636.
To demonstrate the functional significance of this interaction, we used Caenorhabditis elegans, since it has only one beta ( PAT-3) integrin chain, two alpha (INA-1 and PAT-2) integrin chains, and a well-conserved NIK ortholog ( MIG-15). Paper-9439477.
In conclusion, MKK3 signalling plays an essential role in the development of islet inflammation leading to destruction of beta-cells and hyperglycaemia in MLD- STZ-induced pancreatic injury.Laboratory Investigation advance online publication, 18 February 2008; doi:10.1038/labinvest.2008.10. Paper-12765482.
As an animal model, ASA(-/-) mice have previously been generated by disruption of the ASA gene and are known to develop lysosomal sulfatide storage similar to that in human MLD, and, moreover, to become deaf because of degeneration of the primary neurons of the auditory pathway. Paper-10857107.
Group I ( MVP + BJHMS) had significantly increased anterior mitral leaflet thickness (AMLT, 3.4 +/- 0.4 vs 3.1 +/- 0.3; P < 0.005), maximal leaflet displacement ( MLD, 2.4 +/- 0.4 vs 1.7 +/- 0.4; P < 0.005), and degree of mitral regurgitation (DMR, 17.1 +/- 7.2 vs 11.2 +/- 4.4; P < 0.01) compared to group II. Paper-10336300.
Sham operated control rats were designated as Gr I, Gr II animals served as osteoporosis control, Gr III osteoporosis rats were treated with SV (1/25th of MLD), Gr IV osteoporosis rats were treated with 1/50th of MLD of SV and Gr V osteoporosis rats were treated with standard (calcium and vit-D3). Paper-13556831.
Although the residual CS activity in the patient's extracts was clearly demonstrable only after partial purification, it was concluded that this activity protects organ tissues from sulfatide accumulation in PASAD, since in sulfatide lipidosis ( metachromatic leukodystrophy, MLD) no residual CS activity was detectable. Paper-5741169.
All the dimethylene-interrupted methyl octadecadiynoates have been synthesised and the gas-liquid chromatographic behaviour of these isomers was studied on polar [Carbowax 20M, FFAP, DEGA, DEGS and Silar 10C (recently renamed as Apolar 10C)], semi-polar (XE-60) and non-polar (SE-30, OV-101 and Apiezon L) stationary phases. Paper-2296172.
Here, results from deactivation studies (with alkali, heat, hexane or formaldehyde) are interpreted in terms of the infectious nucleation seed comprising 14-28 PrP molecules held together by interactions with amphipathic phospholipid ( PL) or more probably sphingolipid ( SL) from the host. Paper-12625345.
The intact fibroblast cerebroside sulfate loading test is useful because sulfatide hydrolysis can be demonstrated in late onset MLD cell types with 1% or less of normal arylsulfatase A. In such cells, hydrolysis of sulfatide was inhibited when the loading test was carried out in growth media containing the organic ampholyte Hepes. Paper-4511224.
These synonyms are used for gene DEGS1 (degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)): Sphingolipid delta(4)-desaturase DES1, MLD, Migration-inducing gene 15 protein, MIG15, MGC5079, Membrane lipid desaturase, FADS7, Des-1, DES1, DEGS, Degenerative spermatocyte homolog 1.
These accession numbers are used for gene DEGS1: AAS00493 (NCBI_GENBANK__AC), AAM12531 (NCBI_GENBANK__AC), A8CGI7 (UNIPROT__AC).
DEGS1 is a homologue of Os02g0639600 (Os02g0639600) from Oryza sativa Japonica Group.
DEGS1 is a homologue of ifc (infertile crescent) from Drosophila melanogaster.
DEGS1 is a homologue of F33D4.4 (hypothetical protein) from Caenorhabditis elegans.
DEGS1 is a homologue of DES-1-LIKE (DES-1-LIKE; oxidoreductase/ sphingolipid delta-4 desaturase) from Arabidopsis thaliana.
DEGS1 is a homologue of DEGS1 (degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)) from Bos taurus.
DEGS1 is a homologue of DEGS1 (degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)) from Pan troglodytes.
DEGS1 is a homologue of DEGS1 (degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)) from Gallus gallus.
DEGS1 is a homologue of DEGS1 (degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)) from Canis lupus familiaris.
DEGS1 is a homologue of Degs1 (degenerative spermatocyte homolog 1 (Drosophila)) from Mus musculus.
DEGS1 is a homologue of Degs1 (degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)) from Rattus norvegicus.
DEGS1 is a homologue of degs1 (degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)) from Danio rerio.
DEGS1 is a homologue of AgaP_AGAP012111 (AGAP012111-PA) from Anopheles gambiae str. PEST.
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