ISPD Antibody

1. ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. PMID: 27194101
2. data suggest that the genetic heterogeneity of Limb Girdle Muscular Dystrophy with and without alpha-DG defects is greater than previously realized. PMID: 26404900
3. ISPD gene homozygous deletion as a prenatal manifestation of Walker-Warburg syndrome has been found in 3 female fetuses of one family. PMID: 26087224
4. Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC. PMID: 26220087
5. 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 PMID: 25444434
6. 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 PMID: 23288328
7. we identified a novel homozygous c.161G>C/p.G54A variant in ISPD in patients with limb-girdle muscular dystrophy PMID: 23390185
8. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies. PMID: 23217329
9. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. PMID: 22522420
10. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. PMID: 22522421
11. Observational study of gene-disease association. (HuGE Navigator) PMID: 19913121
12. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) PMID: 20628086
13. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614

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HGNC: 37276

OMIM: 614631

KEGG: hsa:729920

STRING: 9606.ENSP00000385478

UniGene: Hs.636502