Nature Search

Spermidine is essential for fasting-mediated autophagy and longevity

Hofer et al. show that fasting promotes the synthesis of spermidine, which stimulates eIF5A hypusination to induce autophagy and increase lifespan in various species in a conserved manner.

Sebastian J. Hofer
Ioanna Daskalaki
Frank Madeo
ResearchOpen Access08 Aug 2024
Nature Cell Biology

Volume: 26, P: 1571-1584
Mutational scanning pinpoints distinct binding sites of key ATGL regulators in lipolysis

ATGL is a key enzyme in intracellular lipolysis. Here, the authors use deep mutational scanning to define the determinants of protein interaction between ATGL and its regulatory partners, gaining insights into lipolysis mechanisms in cells.

Johanna M. Kohlmayr
Gernot F. Grabner
Ulrich Stelzl
ResearchOpen Access21 Mar 2024
Nature Communications

Volume: 15, P: 1-15
Warming up cool cooperators

Ferguson et al. test the effectiveness of messages designed to increase rates of repeat blood donation and find that warm-glow feelings as a motivation for cooperation cool over time but can be reactivated.

Eamonn Ferguson
Claire Lawrence
Tanya E. Davison
ResearchOpen Access14 Sept 2023
Nature Human Behaviour

Volume: 7, P: 1917-1932
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Michael Talkowski and colleagues analyze balanced chromosomal abnormalities in 273 individuals by whole-genome sequencing. Their findings suggest that sequence-level resolution improves prediction of clinical outcomes for balanced rearrangements and provides insight into pathogenic mechanisms such as altered gene regulation due to changes in chromosome topology.

Claire Redin
Harrison Brand
Michael E Talkowski
Research14 Nov 2016
Nature Genetics

Volume: 49, P: 36-45
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

This Brain Somatic Mosaicism Network analysis of 283 cases of malformations of cortical development identifies 69 candidate and known genes in 76 patients. Single-nucleus RNA sequencing and mouse modeling implicate radial glia and daughter excitatory neurons.

Changuk Chung
Xiaoxu Yang
Joseph G. Gleeson
Research12 Jan 2023
Nature Genetics

Volume: 55, P: 209-220
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain
David S. Oleson
Christian P. Schaaf
ResearchOpen Access25 Jan 2019
Genetics in Medicine

Volume: 21, P: 1797-1807
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Alicia Scocchia
Kristen M. Wigby
Ryan J. Taft
ResearchOpen Access14 Feb 2019
npj Genomic Medicine

Volume: 4, P: 1-12
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

David A Koolen
Rolph Pfundt
Bert BA de Vries
Research26 Aug 2015
European Journal of Human Genetics

Volume: 24, P: 652-659

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Spermidine is essential for fasting-mediated autophagy and longevity

Mutational scanning pinpoints distinct binding sites of key ATGL regulators in lipolysis

Warming up cool cooperators

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

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