List of works - Pelagia Deriziotis

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment

scientific article published on 8 April 2015

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

scientific article published on 19 July 2016

De novo TBR1 mutations in sporadic autism disrupt protein functions

scientific article

Disease-associated prion protein oligomers inhibit the 26S proteasome

scientific article published on April 2007

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

scientific article published on 25 July 2017

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scientific article (publication date: June 2011)

Functional characterization of TBR1 variants in neurodevelopmental disorder

scientific article published in Scientific Reports

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

scientific article

Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study

scientific article published on January 2009

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

scientific journal article

Insights into the genetic foundations of human communication

scientific article

Investigating protein-protein interactions in live cells using bioluminescence resonance energy transfer

scientific article published on 26 May 2014

Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry

scientific article

Neurogenomics of speech and language disorders: the road ahead

scientific article

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

scientific article published on 27 March 2017

Prions and the proteasome

scientific article published on July 2008

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders

scientific article

The DISC1 promoter: characterization and regulation by FOXP2.

scientific article

The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers

scientific article

List of works by Pelagia Deriziotis

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

De novo TBR1 mutations in sporadic autism disrupt protein functions

Disease-associated prion protein oligomers inhibit the 26S proteasome

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Functional characterization of TBR1 variants in neurodevelopmental disorder

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

Insights into the genetic foundations of human communication

Investigating protein-protein interactions in live cells using bioluminescence resonance energy transfer

Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry

Neurogenomics of speech and language disorders: the road ahead

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Prions and the proteasome

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders

The DISC1 promoter: characterization and regulation by FOXP2.

The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers