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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Variants in the PSMC5 gene impair proteasome function and cellular homeostasis, altering brain development in children. This study reveals underlying molecular mechanisms contributing to this neurodevelopmental phenotype, and suggests therapeutic leads for neurodevelopmental proteasomopathies.

Sébastien Küry
Janelle E. Stanton
Elke Krüger
ResearchOpen Access26 Nov 2025
Nature Communications

Volume: 16, P: 1-21
Glutathione synthesis in the mouse liver supports lipid abundance through NRF2 repression

Glutathione has pleiotropic functions in different organs. Here the authors specifically examine deletion of a glutathione synthetic enzyme in the liver of adult mice and show that lack of glutathione affects lipid abundance through repressing NRF2.

Gloria Asantewaa
Emily T. Tuttle
Isaac S. Harris
ResearchOpen Access21 Jul 2024
Nature Communications

Volume: 15, P: 1-18
Parasitic infection increases risk-taking in a social, intermediate host carnivore

Wolf behavioural, spatial, and serological data over 26 years show that wolf territory overlap with areas of high cougar density is a significant predictor of T. gondii infection. Further, infection increases the likelihood that wolves make high-risk decisions such as dispersing and becoming a pack leader.

Connor J. Meyer
Kira A. Cassidy
Douglas W. Smith
ResearchOpen Access24 Nov 2022
Communications Biology

Volume: 5, P: 1-10
Evolutionary entanglement of mobile genetic elements and host defence systems: guns for hire

Incessant encounters of all cellular life forms with mobile genetic elements (MGEs) have driven the evolution of diverse defence mechanisms, including CRISPR–Cas and restriction–modification systems. In this Perspective, Koonin, Makarova, Wolf and Krupovic describe the surprisingly intricate interplay between MGEs and host defence systems. Not only do defence systems commonly show high horizontal mobility but many molecular components are ‘guns for hire’ that have been co-opted by defence systems from MGEs and vice versa.

Eugene V. Koonin
Kira S. Makarova
Mart Krupovic
Reviews14 Oct 2019
Nature Reviews Genetics

Volume: 21, P: 119-131
A framework for an evidence-based gene list relevant to autism spectrum disorder

A curated list of genes that are relevant to autism spectrum disorder (ASD) would greatly benefit clinical genetic testing. This Roadmap discusses the need for an evidence-based framework for gene curation that is based on the level of information supporting a clinically relevant relationship between a given gene and ASD.

Christian P. Schaaf
Catalina Betancur
Jacob A. S. Vorstman
Reviews21 Apr 2020
Nature Reviews Genetics

Volume: 21, P: 367-376
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Krinio Giannikou
Kathryn D. Lasseter
David J. Kwiatkowski
Research04 Jun 2019
Genetics in Medicine

Volume: 21, P: 2639-2643
Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

Robyn M. Busch
Siddharth Srivastava
Jennifer M. Phillips
ResearchOpen Access08 Oct 2019
Translational Psychiatry

Volume: 9, P: 1-9
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Krinio Giannikou
Kathryn D. Lasseter
David J. Kwiatkowski
Amendments and Corrections22 Dec 2020
Genetics in Medicine

Volume: 23, P: 2022
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Siddharth Srivastava
Jamie A. Love-Nichols
David T. Miller
Amendments and CorrectionsOpen Access29 Jul 2020
Genetics in Medicine

Volume: 22, P: 1731-1732
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Siddharth Srivastava
Jamie A. Love-Nichols
David T. Miller
ReviewsOpen Access11 Jun 2019
Genetics in Medicine

Volume: 21, P: 2413-2421

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Glutathione synthesis in the mouse liver supports lipid abundance through NRF2 repression

Parasitic infection increases risk-taking in a social, intermediate host carnivore

Evolutionary entanglement of mobile genetic elements and host defence systems: guns for hire

A framework for an evidence-based gene list relevant to autism spectrum disorder

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

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