ArticleNature genetics2012
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 1 of them a synthesis that pooled it.
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Who cites it
110 citing papers in PubMed, 1 synthesis or guideline pooled it, 209 citations in OpenAlex.
- Diagnostic approach to the congenital muscular dystrophies.Neuromuscular disorders : NMD · 2014Guideline
- Variable Phenotypic Manifestations of Novel Compound Heterozygous CRPPA Variants in Two Iranian Siblings With Limb-Girdle Muscular Dystrophy.Molecular genetics & genomic medicine · 2026Article
- Chronological patterns of pathogenic variant distributions in muscular dystrophy genes.Neuromuscular disorders : NMD · 2026Article
- Mitochondrial defects in the cAMP-PKA-DRP1 pathway in a Crppa deletion model of dystroglycanopathy.Disease models & mechanisms · 2026Article
- Advances in Fish Gene Editing.Animals : an open access journal from MDPI · 2026Review
- Identification of the Genetic Causes of Inherited Diseases in a North African Biobank: Implications for Genetic Diagnosis.Molecular syndromology · 2026Article
- Recent advances in the synthesis of α-dystroglycanRSC advances · 2026Review
- Article
- Biosynthesis and Regulation of Laminin-Binding O-Mannosyl Glycans Related to Muscular Dystrophy.Advances in experimental medicine and biology · 2026Review
- A child of congenital muscular dystrophy-dystroglycanopathy with a novel variant in theTranslational pediatrics · 2025Article
- Malformations of Core M3 on α-Dystroglycan Are the Leading Cause of Dystroglycanopathies.Journal of molecular neuroscience : MN · 2025Review
- Molecular basis of proteolytic cleavage regulation by the extracellular matrix receptor dystroglycan.Structure (London, England : 1993) · 2024Article
- Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology.The Analyst · 2024Article
- Protein O-mannosylation: one sugar, several pathways, many functions.Glycobiology · 2023Review
- Limb-Girdle Muscular Dystrophies Classification and Therapies.Journal of clinical medicine · 2023Review
- Modeling Human Muscular Dystrophies in Zebrafish: Mutant Lines, Transgenic Fluorescent Biosensors, and Phenotyping Assays.International journal of molecular sciences · 2023Review
- A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family.Genes & genomics · 2023Article
- Review
- Cell surface glycan engineering reveals that matriglycan alone can recapitulate dystroglycan binding and function.Nature communications · 2022Article
- CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.Nature communications · 2022Article
50 more citing papers are in PubMed but not listed here.
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Authors and funding
35 authors at 14 institutions in 9 countries.
Funding
Abstract
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated a-dystroglycan. These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates.
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