Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

(2021) Taimoor I. Sheikh et al.   Translational Psychiatry

Uncovering the PIDDosome and caspase-2 as regulators of organogenesis and cellular differentiation

(2020) Valentina C. Sladky et al.   CELL DEATH AND DIFFERENTIATION

Definitions and classification of malformations of cortical development: practical guidelines

(2020) Mariasavina Severino et al.   BRAIN

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

(2019) Daniel L. Polla et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prevalence of neuropsychiatric symptoms associated with malformations of cortical development

(2019) Cyrus S.H. Ho et al.   EPILEPSY & BEHAVIOR

Toward a Better Understanding of Neuronal Migration Deficits in Autism Spectrum Disorders

(2019) Yi-Hsuan Pan et al.   Frontiers in Cell and Developmental Biology

Biallelic variants in KIF14 cause intellectual disability with microcephaly

(2018) Periklis Makrythanasis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

(2018) Nataliya Di Donato et al.   GENETICS IN MEDICINE

Genetics of intellectual disability in consanguineous families

(2018) Hao Hu et al.   MOLECULAR PSYCHIATRY

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

(2018) Peter Bauer et al.   GENETICS IN MEDICINE

The PIDDosome activates p53 in response to supernumerary centrosomes

(2017) Luca L. Fava et al.   GENES & DEVELOPMENT

The resurrection of the PIDDosome – emerging roles in the DNA-damage response and centrosome surveillance

(2017) Valentina Sladky et al.   JOURNAL OF CELL SCIENCE

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

(2017) R Harripaul et al.   MOLECULAR PSYCHIATRY

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

(2016) Nataliya Di Donato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RELNandVLDLRmutations underlie two distinguishable clinico-radiological phenotypes

(2016) S. Valence et al.   CLINICAL GENETICS

Role of Apoptosis in disease

(2016) B. Favaloro et al.   Aging-US

Neuronal migration abnormalities and its possible implications for schizophrenia

(2015) Kazue Muraki et al.   Frontiers in Neuroscience

PIDD mediates and stabilizes the interaction between RAIDD and Caspase-2 for the PIDDosome assembly

(2013) Tae-Ho Jang et al.   BMB Reports

Caspase-2 is required for dendritic spine and behavioural alterations in J20 APP transgenic mice

(2013) Julio Pozueta et al.   Nature Communications

Neuronal caspase 2 activity and function requires RAIDD, but not PIDD

(2012) Elena M. Ribe et al.   BIOCHEMICAL JOURNAL

The PIDDosome, DNA-damage-induced apoptosis and beyond

(2011) S Janssens et al.   CELL DEATH AND DIFFERENTIATION

Caspase-2 activation in the absence of PIDDosome formation

(2009) Claudia Manzl et al.   JOURNAL OF CELL BIOLOGY