Lista de obras - Ricardo E Dolmetsch - Dominio Público Uruguay

16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.

artículo científico publicado en 2015

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development

artículo científico publicado en 2020

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

artículo científico publicado en 2016

A promoter in the coding region of the calcium channel gene CACNA1C generates the transcription factor CCAT.

artículo científico publicado en 2013

Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome

scientific article published on 23 December 2019

Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome.

artículo científico publicado en 2014

Alternative splicing converts STIM2 from an activator to an inhibitor of store-operated calcium channels

artículo científico publicado en 2015

Apelin enhances directed cardiac differentiation of mouse and human embryonic stem cells

artículo científico publicado en 2012

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome

artículo científico publicado en 2014

CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency.

artículo científico publicado en 2016

CREB transcriptional activity in neurons is regulated by multiple, calcium-specific phosphorylation events.

artículo científico publicado en 2002

Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy

scientific journal article

Calcium channels light up.

artículo científico publicado en 2007

Calcium imaging of cortical neurons using Fura-2 AM.

artículo científico publicado en 2009

Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development

artículo científico publicado en 2013

Competition between α-actinin and Ca²⁺-calmodulin controls surface retention of the L-type Ca²⁺ channel Ca(V)1.2.

artículo científico publicado en 2013

Cytoplasmic location of α1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death

artículo científico publicado en 2013

Direct in vivo assessment of human stem cell graft-host neural circuits

artículo científico publicado en 2015

Excitation-transcription coupling: signaling by ion channels to the nucleus

artículo científico publicado en 2003

Gabapentin receptor alpha2delta-1 is a neuronal thrombospondin receptor responsible for excitatory CNS synaptogenesis

artículo científico publicado en 2009

Generating human neurons in vitro and using them to understand neuropsychiatric disease.

artículo científico publicado en 2014

Identification of Orai1 channel inhibitors by using minimal functional domains to screen small molecule microarrays

artículo científico publicado en 2014

In vitro human corticogenesis

artículo científico publicado en 2013

Induction of protein-protein interactions in live cells using light

artículo científico publicado en 2009

LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress

artículo científico publicado en 2011

MicroRNA-mediated conversion of human fibroblasts to neurons.

artículo científico publicado en 2011

Modeling Timothy Syndrome with iPS Cells ⬇️

artículo científico publicado el 9 de enero de 2013

Molecular mechanisms of autism: a possible role for Ca2+ signaling

artículo científico publicado en 2007

PIKfyve mediates the motility of late endosomes and lysosomes in neuronal dendrites

artículo científico publicado en 2015

PIKfyve regulates CaV1.2 degradation and prevents excitotoxic cell death

artículo científico publicado en 2009

Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

artículo científico publicado en 2012

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

artículo científico publicado en 2013

STIM1 and calmodulin interact with Orai1 to induce Ca2+-dependent inactivation of CRAC channels

artículo científico publicado en 2009

STIM1 clusters and activates CRAC channels via direct binding of a cytosolic domain to Orai1

artículo científico publicado en 2009

State-dependent signaling by Cav1.2 regulates hair follicle stem cell function

artículo científico publicado en 2013

Straight talk with... Ricardo Dolmetsch. Interview by Elie Dolgin

artículo científico publicado en 2013

The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor

artículo científico publicado en 2006

The CRAC Channel Activator STIM1 Binds and Inhibits L-Type Voltage-Gated Calcium Channels ⬇️

artículo científico publicado el 1 de octubre de 2010

The Human Brain in a Dish: The Promise of iPSC-Derived Neurons ⬇️

artículo científico publicado el 10 de junio de 2011

The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.

artículo científico publicado en 2009

The tumor suppressor eIF3e mediates calcium-dependent internalization of the L-type calcium channel CaV1.2.

artículo científico

Time-lapse imaging of a dynamic phosphorylation-dependent protein-protein interaction in mammalian cells

artículo científico publicado en 2002

Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

artículo científico publicado en 2013

Translating genome-wide association findings into new therapeutics for psychiatry

artículo científico publicado en 2016

TrpC3 regulates hypertrophy-associated gene expression without affecting myocyte beating or cell size

artículo científico publicado en 2007

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome ⬇️

artículo científico publicado el 27 de noviembre de 2011

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome ⬇️

artículo científico publicado el 9 de febrero de 2011

Using light to control signaling cascades in live neurons ⬇️

artículo científico publicado el 17 de septiembre de 2010

Lista de obras de Ricardo E Dolmetsch

16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

A promoter in the coding region of the calcium channel gene CACNA1C generates the transcription factor CCAT.

Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome

Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome.

Alternative splicing converts STIM2 from an activator to an inhibitor of store-operated calcium channels

Apelin enhances directed cardiac differentiation of mouse and human embryonic stem cells

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome

CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency.

CREB transcriptional activity in neurons is regulated by multiple, calcium-specific phosphorylation events.

Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy

Calcium channels light up.

Calcium imaging of cortical neurons using Fura-2 AM.

Calcium influx through L-type CaV1.2 Ca2+ channels regulates mandibular development

Competition between α-actinin and Ca²⁺-calmodulin controls surface retention of the L-type Ca²⁺ channel Ca(V)1.2.

Cytoplasmic location of α1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death

Direct in vivo assessment of human stem cell graft-host neural circuits

Excitation-transcription coupling: signaling by ion channels to the nucleus

Gabapentin receptor alpha2delta-1 is a neuronal thrombospondin receptor responsible for excitatory CNS synaptogenesis

Generating human neurons in vitro and using them to understand neuropsychiatric disease.

Identification of Orai1 channel inhibitors by using minimal functional domains to screen small molecule microarrays

In vitro human corticogenesis

Induction of protein-protein interactions in live cells using light

LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress

MicroRNA-mediated conversion of human fibroblasts to neurons.

Modeling Timothy Syndrome with iPS Cells ⬇️

Molecular mechanisms of autism: a possible role for Ca2+ signaling

PIKfyve mediates the motility of late endosomes and lysosomes in neuronal dendrites

PIKfyve regulates CaV1.2 degradation and prevents excitotoxic cell death

Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

STIM1 and calmodulin interact with Orai1 to induce Ca2+-dependent inactivation of CRAC channels

STIM1 clusters and activates CRAC channels via direct binding of a cytosolic domain to Orai1

State-dependent signaling by Cav1.2 regulates hair follicle stem cell function

Straight talk with... Ricardo Dolmetsch. Interview by Elie Dolgin

The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor

The CRAC Channel Activator STIM1 Binds and Inhibits L-Type Voltage-Gated Calcium Channels ⬇️

The Human Brain in a Dish: The Promise of iPSC-Derived Neurons ⬇️

The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.

The tumor suppressor eIF3e mediates calcium-dependent internalization of the L-type calcium channel CaV1.2.

Time-lapse imaging of a dynamic phosphorylation-dependent protein-protein interaction in mammalian cells

Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

Translating genome-wide association findings into new therapeutics for psychiatry

TrpC3 regulates hypertrophy-associated gene expression without affecting myocyte beating or cell size

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome ⬇️

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome ⬇️

Using light to control signaling cascades in live neurons ⬇️