PIDD1

Last update 08 May 2025

Basic Info

Synonyms

DKFZp434D229, Leucine-rich repeat and death domain-containing protein, LRDD

+ [8]

Introduction

Component of the DNA damage/stress response pathway that functions downstream of p53/TP53 and can either promote cell survival or apoptosis (PubMed:10973264, PubMed:15073321, PubMed:16360037, PubMed:17159900). Associated with CRADD and the CASP2 caspase, it forms the PIDDosome a complex that activates CASP2 and triggers apoptosis (PubMed:15073321, PubMed:17159900). Associated with IKBKG and RIPK1, it enhances sumoylation and ubiquitination of IKBKG which is important for activation of the transcription factor NF-kappa-B (PubMed:16360037, PubMed:17159900).

100 Clinical Results associated with PIDD1

100 Translational Medicine associated with PIDD1

0 Patents (Medical) associated with PIDD1

145

Literatures (Medical) associated with PIDD1

01 May 2025·Life Science Alliance

Unraveling ADHD: genes, co-occurring traits, and developmental dynamics

Article

Author: Jacobsen, Jessie C ; Gokuladhas, Sreemol ; Golovina, Evgeniia ; O’Sullivan, Justin M ; Miller, Catriona J ; Wicker, Joerg S

Attention-deficit/hyperactivity disorder (ADHD) is a heterogeneous neurodevelopmental condition with a high prevalence of co-occurring conditions, contributing to increased difficulty in long-term management. Genome-wide association studies have identified variants shared between ADHD and co-occurring psychiatric disorders; however, the genetic mechanisms are not fully understood. We integrated gene expression and spatial organization data into a two-sample Mendelian randomization study for putatively causal ADHD genes in fetal and adult cortical tissues. We identified four genes putatively causal for ADHD in cortical tissues (fetal:ST3GAL3,PTPRF,PIDD1; adult:ST3GAL3,TIE1). Protein–protein interaction databases seeded with the causal ADHD genes identified biological pathways linking these genes with conditions (e.g., rheumatoid arthritis) and biomarkers (e.g., lymphocyte counts) known to be associated with ADHD, but without previously shown genetic relationships. The analysis was repeated on adult liver tissue, where putatively causal ADHD geneST3GAL3was linked to cholesterol traits. This analysis provides insight into the tissue-dependent temporal relationships between ADHD, co-occurring traits, and biomarkers. Importantly, it delivers evidence for the genetic interplay between co-occurring conditions, both previously studied and unstudied, with ADHD.

01 Mar 2025·Mammalian Genome

Identification of cis-sQTL demonstrates genetic associations and functional implications of inflammatory processes in Nelore cattle muscle tissue

Article

Author: Frezarim, Gabriela Bonfá ; Dos Santos, Thaís Cristina Ferreira ; Baldi, Fernando ; Muniz, Maria Malane Magalhães ; Albuquerque, Lucia Galvão De ; Salatta, Bruna Maria ; Silva, Danielly Beraldo Dos Santos ; Fonseca, Larissa Fernanda Simielli ; Silva, Evandro Neves

This study aimed to identify splicing quantitative trait loci (cis-sQTL) in Nelore cattle muscle tissue and explore the involvement of spliced genes (sGenes) in immune system-related biological processes. Genotypic data from 80 intact male Nelore cattle were obtained using SNP-Chip technology, while RNA-Seq analysis was performed to measure gene expression levels, enabling the integration of genomic and transcriptomic datasets. The normalized expression levels of spliced transcripts were associated with single nucleotide polymorphisms (SNPs) through an analysis of variance using an additive linear model with the MatrixEQTL package. A permutation analysis then assessed the significance of the best SNPs for each spliced transcript. Functional enrichment analysis was performed on the sGenes to investigate their roles in the immune system. In total, 3,187 variants were linked to 3,202 spliced transcripts, with 83 sGenes involved in immune system processes. Of these, 31 sGenes were enriched for five transcription factors. Most cis-sQTL effects were found in intronic regions, with 27 sQTL variants associated with disease susceptibility and resistance in cattle. Key sGenes identified, such as GSDMA, NLRP6, CASP6, GZMA, CASP4, CASP1, TREM2, NLRP1, and NAIP, were related to inflammasome formation and pyroptosis. Additionally, genes like PIDD1, OPTN, NFKBIB, STAT1, TNIP3, and TREM2 were involved in regulating the NF-kB pathway. These findings lay the groundwork for breeding disease-resistant cattle and enhance our understanding of genetic mechanisms in immune responses.

06 Feb 2025·Nature

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly

Article

Author: Kaymakcalan, Hande ; Lam, TuKiet T ; Henegariu, Octavian ; Caglar, Caner ; Cortes, Joelly ; Mishra-Gorur, Ketu ; Yalcinkaya, Cengiz ; Peksen, A Buket ; Narayanan, Anand ; Miyagishima, Danielle F ; Lopez-Giraldez, Francesc ; Erson-Omay, E Zeynep ; Zhang, Ce ; Koroglu, Merve Nur ; Takeo, Yutaka ; Guzel, Aslan ; Liang, Dan ; Bulut, Aybike S ; Ercan-Sencicek, A Gulhan ; Cheng, Iris Q ; Nishimura, Sayoko ; Barak, Tanyeri ; Louvi, Angeliki ; Gunel, Murat ; Yasuno, Katsuhito ; Wang, Xinyuan ; Tuysuz, Beyhan ; Caglayan, A Okay ; Bilguvar, Kaya ; Sestan, Nenad ; Mane, Shrikant ; Wang, Guilin

Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions¹. Lissencephaly ('smooth brain') spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy and intellectual disability². However, the molecular mechanisms underlying disease pathogenesis remain unknown. Here we establish hypoactivity of the mTOR pathway as a clinically relevant molecular mechanism in lissencephaly spectrum disorders. We characterized two types of cerebral organoid derived from individuals with genetically distinct lissencephalies with a recessive mutation in p53-induced death domain protein 1 (PIDD1) or a heterozygous chromosome 17p13.3 microdeletion leading to Miller-Dieker lissencephaly syndrome (MDLS). PIDD1-mutant organoids and MDLS organoids recapitulated the thickened cortex typical of human lissencephaly and demonstrated dysregulation of protein translation, metabolism and the mTOR pathway. A brain-selective activator of mTOR complex 1 prevented and reversed cellular and molecular defects in the lissencephaly organoids. Our findings show that a converging molecular mechanism contributes to two genetically distinct lissencephaly spectrum disorders.

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PIDD1

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