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Differential activation of transcription factors induced by Ca²⁺ response amplitude and duration

Ricardo E. Dolmetsch
Richard S. Lewis
James I. Healy
Research17 Jul 1997
Nature

Volume: 388, P: 308
Correction: Corrigendum: Gene regulation mediated by calcium signals in T lymphocytes

Stefan Feske
Jena Giltnane
Anjana Rao
Amendments and Corrections01 Mar 2008
Nature Immunology

Volume: 9, P: 328-329
Differential activation of transcription factors induced by Ca²⁺ response amplitude and duration

Ricardo E. Dolmetsch
Richard S. Lewis
James I. Healy
Research24 Apr 1997
Nature

Volume: 386, P: 855-858
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

Deletions of chromosome 22q13.3 cause Phelan–McDermid syndrome (PMDS), a neurodevelopmental disorder associated with autism; here induced pluripotent stem cells from PMDS patients with autism are used to produce neurons, they are shown to have reduced SHANK3 expression and a defect in excitatory synaptic transmission which can be restored either by increasing SHANK3 or with insulin-like growth factor 1.

Aleksandr Shcheglovitov
Olesya Shcheglovitova
Ricardo E. Dolmetsch
Research16 Oct 2013
Nature

Volume: 503, P: 267-271
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

Timothy syndrome is a neurodevelopmental disease that includes autism-like features. Using iPS-derived neurons from individuals with Timothy syndrome, Ricardo Dolmetsch and his colleagues identify changes in cortical neuron fate and neurotransmitter expression that may begin to explain the neural mechanisms that underlie this disorder.

Sergiu P Paşca
Thomas Portmann
Ricardo E Dolmetsch
Research27 Nov 2011
Nature Medicine

Volume: 17, P: 1657-1662
Calcium channels light up

The development of a technique for measuring calcium concentrations in nanodomains next to calcium channels provides new insights into calcium signaling.

Eric Green
Ricardo E Dolmetsch
News & Views01 Jul 2007
Nature Chemical Biology

Volume: 3, P: 369-370
Calcium oscillations increase the efficiency and specificity of gene expression

Ricardo E. Dolmetsch
Keli Xu
Richard S. Lewis
Research30 Apr 1998
Nature

Volume: 392, P: 933-936
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

The authors report that calcium channels with a mutation associated with Timothy syndrome cause activity-dependent dendrite retraction in rodent neurons and in induced pluripotent stem cell–derived neurons from individuals with Timothy syndrome. This retraction was independent of Ca permeation but was associated with activation of RhoA signaling.

Jocelyn F Krey
Sergiu P Paşca
Ricardo E Dolmetsch
Research13 Jan 2013
Nature Neuroscience

Volume: 16, P: 201-209
Induction of protein-protein interactions in live cells using light

Controlling protein-protein interaction with high temporal and spatial resolution is essential for understanding many cellular processes. Yazawa et al. present genetically encoded tags that can induce protein dimer formation upon stimulation with blue light.

Masayuki Yazawa
Amir M Sadaghiani
Ricardo E Dolmetsch
Research04 Oct 2009
Nature Biotechnology

Volume: 27, P: 941-945
An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion

Huntington’s disease (HD) results from the abnormal expansion of CAG repeats in exon 1 of the HTT gene. Here, the authors show that orally available, brain penetrant molecule branaplam lowers HTT transcript by promoting inclusion of a poison exon or pseudoexon.

Caroline Gubser Keller
Youngah Shin
Rajeev Sivasankaran
ResearchOpen Access03 Mar 2022
Nature Communications

Volume: 13, P: 1-11
The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

How the 22q11.2 deletion predisposes to psychiatric disease is unclear. Here, the authors examine living human neuronal cells and show that 22q11.2 regulates the expression of genes linked to autism during early development, and genes linked to schizophrenia and synaptic biology in neurons.

Ralda Nehme
Olli Pietiläinen
Kevin Eggan
ResearchOpen Access27 Jun 2022
Nature Communications

Volume: 13, P: 1-21
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome

A human stem cell–derived model helps to uncover neuronal phenotypes associated with genetic forms of neuropsychiatric disease.

Themasap A. Khan
Omer Revah
Sergiu P. Paşca
Research28 Sept 2020
Nature Medicine

Volume: 26, P: 1888-1898
Gene regulation mediated by calcium signals in T lymphocytes

Stefan Feske
Jena Giltnane
Anjana Rao
Research01 Apr 2001
Nature Immunology

Volume: 2, P: 316-324
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

A mutation in the gene CACNA1C, encoding the L-type calcium channel Ca_V1.2 in humans, causes Timothy syndrome, a disorder characterized by autism, syndactyly, immune deficiency and cardiac arrhythmias. This study generated induced pluripotent stem cells from the fibroblasts of two patients with Timothy syndrome and converted them into cardiac cells. The patient cells displayed abnormal electrical and calcium signalling properties, which were restored by a drug, roscovitine, known to increase the voltage-dependent inactivation of Ca_V1.2.

Masayuki Yazawa
Brian Hsueh
Ricardo E. Dolmetsch
Research09 Feb 2011
Nature

Volume: 471, P: 230-234
Translating genome-wide association findings into new therapeutics for psychiatry

The Psychiatric Genomics Consortium is aiming to analyze data from >1 million individuals. This is already leading to hundreds of new genetic findings across psychiatric disorders with the potential to restart largely stalled psychiatric drug development pipelines. This paper outlines key questions and plans to translate findings into new therapeutics.

Gerome Breen
Qingqin Li
Howard J Edenberg
Comments & Opinion26 Oct 2016
Nature Neuroscience

Volume: 19, P: 1392-1396
p53 inhibits CRISPR–Cas9 engineering in human pluripotent stem cells

CRISPR–Cas9-induced DNA damage triggers p53 to limit the efficiency of gene editing in human pluripotent cells.

Robert J. Ihry
Kathleen A. Worringer
Ajamete Kaykas
Research11 Jun 2018
Nature Medicine

Volume: 24, P: 939-946
MicroRNA-mediated conversion of human fibroblasts to neurons

Andrew S. Yoo
Alfred X. Sun
Gerald R. Crabtree
Research13 Jul 2011
Nature

Volume: 476, P: 228-231
A framework for the investigation of rare genetic disorders in neuropsychiatry

Rare genetic diseases frequently involve a neuropsychiatric component for which a defined framework of investigation will expedite our understanding for these diseases as a whole.

Stephan J. Sanders
Mustafa Sahin
Carrie E. Bearden
Reviews23 Sept 2019
Nature Medicine

Volume: 25, P: 1477-1487
Genome-wide CRISPR screen identifies protein pathways modulating tau protein levels in neurons

Using an unbiased genome-wide CRISPR screen approach, Sanchez et al. identified modulators of endogenous tau protein. This study suggests that chromatin modifiers, neddylation, ubiquitination, and the mTOR pathways regulate overall levels of tau protein in neurons, which could help in future identification of therapeutics for neurodegenerative diseases.

Carlos G. Sanchez
Christopher M. Acker
Fiona Elwood
ResearchOpen Access14 Jun 2021
Communications Biology

Volume: 4, P: 1-14

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