Associated Papers
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL et al.
American Journal of Medical Genetics. Part A, 2022
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
Gholizadeh MA et al.
Bmc Medical Genomics, 2022
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.
Koko M et al.
Annals of Human Genetics, 2021
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H et al.
Human Molecular Genetics, 2021
Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.
Bibbò F et al.
Frontiers in Oncology, 2021
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Hartley JN et al.
American Journal of Medical Genetics. Part A, 2019
Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.
Okur D et al.
The Turkish Journal of Pediatrics, 2019
PRUNE1-related disorder: Expanding the clinical spectrum.
Imagawa E et al.
Clinical Genetics, 2018
PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.
Alfadhel M et al.
Child Neurology Open, 2018
PRUNE1: a disease-causing gene for secondary microcephaly.
Karakaya M et al.
Brain : a Journal of Neurology, 2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M et al.
Brain : a Journal of Neurology, 2017
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