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ISPD encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Additionally we are shipping ISPD Antibodies (28) and ISPD Proteins (3) and many more products for this protein.
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ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan.
data suggest that the genetic heterogeneity of Limb Girdle Muscular Dystrophy with and without alpha-DG defects is greater than previously realized.
ISPD gene homozygous deletion as a prenatal manifestation of Walker-Warburg syndrome has been found in 3 female fetuses of one family.
Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC.
study describes a new homozygous missense mutation c.367G>A (p.Gly123Arg) in the ISPD gene in a family of Pakistani origin with 2 cousins from consanguineous parents affected with a congenital muscular dystrophy (CMD) /early limb-girdle muscular dystrophy intermediate phenotype and CMD respectively
study report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families
we identified a novel homozygous c.161G>C/p.G54A variant in ISPD in patients with limb-girdle muscular dystrophy
TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.
we show that activated NOTCH1 and ZMIZ1 collaborate to induce T-ALL in mice
This study demonistrated that the axonal guidance defects observed in ispd mutant mice.
This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants.
isoprenoid synthase domain containing
, 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
, isoprenoid synthase domain-containing protein
, 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog
, notch1-induced protein