Associated Papers
Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.
Xu L et al.
Frontiers in Pediatrics, 2025
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G et al.
American Journal of Medical Genetics. Part A, 2022
Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies.
Hetman M et al.
Journal of Neurochemistry, 2019
Dysregulated Translation in Neurodevelopmental Disorders: An Overview of Autism-Risk Genes Involved in Translation.
Chen YC et al.
Developmental Neurobiology, 2019
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.
Bourque DK et al.
European Journal of Medical Genetics, 2018
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Zanni G et al.
Human Mutation, 2015
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Thevenon J et al.
American Journal of Medical Genetics. Part A, 2015
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
Brooks SS et al.
Genetics, 2014
Protein signatures of oxidative stress response in a patient specific cell line model for autism.
Chiocchetti AG et al.
Molecular Autism, 2014
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A et al.
American Journal of Human Genetics, 2013
Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder.
Chiocchetti A et al.
American Journal of Medical Genetics. Part A, 2011
An investigation of ribosomal protein L10 gene in autism spectrum disorders.
Gong X et al.
Bmc Medical Genetics, 2009
Contribution of SHANK3 mutations to autism spectrum disorder.
Moessner R et al.
American Journal of Human Genetics, 2007
Mutational analysis of the ribosomal protein Rpl10 from yeast.
Hofer A et al.
The Journal of Biological Chemistry, 2007
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
Klauck SM et al.
Molecular Psychiatry, 2006