Associated Papers
Structural mechanisms of allosteric regulation in the human cis-prenyltransferase complex.
Giladi M et al.
Nature Communications, 2025
NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.
Shen NX et al.
Molecular Neurobiology, 2024
Loss of cis-PTase function in the liver promotes a highly penetrant form of fatty liver disease that rapidly transitions to hepatocellular carcinoma.
Singh AK et al.
Biorxiv : the Preprint Server for Biology, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs_lost
Vertebrate Animal Models of RP59: Current Status and Future Prospects.
Fliesler SJ et al.
International Journal of Molecular Sciences, 2022
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S et al.
Brain : a Journal of Neurology, 2022
NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
Riboldi GM et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant.
Zhang P et al.
Frontiers in Pediatrics, 2021
Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.
Bar-El ML et al.
Nature Communications, 2020
33077723 (PubMed )
Supplement: 41467_2020_18970_MOESM2_ESM.pdf
Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach.
Lisnyansky Bar-El M et al.
Biomolecules, 2019
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
Den K et al.
Bmc Neurology, 2019
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
A conserved C-terminal RXG motif in the NgBR subunit of cis-prenyltransferase is critical for prenyltransferase activity.
Grabińska KA et al.
The Journal of Biological Chemistry, 2017
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.
Park EJ et al.
Cell Metabolism, 2014
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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