Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability (Q104795021)

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12 January 2021

title

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

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12 January 2021

main subject

intellectual disability

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disability affecting intellectual abilities

inferred from title

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11

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12 January 2021

Katta Mohan Girisha

12

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12 January 2021

Valentina C Sladky

18

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12 January 2021

John B Vincent

22

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12 January 2021

author name string

Taimoor I Sheikh

1

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12 January 2021

Nasim Vasli

2

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12 January 2021

Stephen Pastore

3

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12 January 2021

Kimia Kharizi

4

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12 January 2021

Ricardo Harripaul

5

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12 January 2021

Zohreh Fattahi

6

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12 January 2021

Shruti Pande

7

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12 January 2021

Farooq Naeem

8

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12 January 2021

Abrar Hussain

9

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12 January 2021

Asif Mir

10

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12 January 2021

Muhammad Irfan

13

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12 January 2021

Muhammad Ayub

14

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12 January 2021

Christoph Schwarzer

15

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12 January 2021

Hossein Najmabadi

16

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12 January 2021

Anju Shukla

17

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12 January 2021

Vincent Zoran Braun

19

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12 January 2021

Irmina Garcia-Carpio

20

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12 January 2021

Andreas Villunger

21

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12 January 2021

publication date

5 January 2021

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12 January 2021

published in

Translational Psychiatry

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12 January 2021

volume

11

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12 January 2021

page(s)

1

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12 January 2021

issue

1

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Genetic mapping and exome sequencing identify variants associated with five novel diseases

12 January 2021

cites work

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7 January 2021

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

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Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

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The PIDDosome, a protein complex implicated in activation of caspase-2 in response to genotoxic stress

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7 January 2021

Caspase-2 at a glance

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The PIDDosome activates p53 in response to supernumerary centrosomes

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PIDD mediates NF-kappaB activation in response to DNA damage

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Loss of PIDD limits NF-κB activation and cytokine production but not cell survival or transformation after DNA damage

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7 January 2021

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

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7 January 2021

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

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Caspase-2 cleavage of tau reversibly impairs memory

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Caspase-2 promotes AMPA receptor internalization and cognitive flexibility via mTORC2-AKT-GSK3β signaling

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7 January 2021

Caspase-2 activation in the absence of PIDDosome formation

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

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Identifiers

DOI

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12 January 2021

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