Associated Papers
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.
Zaki MS et al.
Journal of Human Genetics, 2024
RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.
Müller JS et al.
Life Science Alliance, 2020
The RNA Exosome and Human Disease.
Fasken MB et al.
Methods in Molecular Biology (clifton, N.j.), 2020
Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.
Singh P et al.
Journal of Molecular Biology, 2018
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT et al.
American Journal of Human Genetics, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
Giunta M et al.
Human Molecular Genetics, 2016
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Boczonadi V et al.
Nature Communications, 2014
Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.
Müller JS et al.
Journal of Neuromuscular Diseases, 0
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