(Q47145203)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

title

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

Glutamate metabotropic receptor 1

29 March 2020

main subject

1 reference

G protein-coupled receptor signaling pathway

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

spinocerebellar ataxia

1 reference

inferred from title

author

Conceicao Bettencourt

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Katherine Fawcett

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Esther Becker

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

author name string

Lauren M Watson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Elizabeth Bamber

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Ricardo Parolin Schnekenberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Jonathan Williams

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Jennifer Lickiss

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Sandeep Jayawant

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Samuel Clokie

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Yvonne Wallis

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Penny Clouston

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

David Sims

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Henry Houlden

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

Andrea H Németh

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

language of work or name

English

0 references

publication date

1 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

volume

101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

page(s)

451-458

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

Neurodevelopmental Expression Profile of Dimeric and Monomeric Group 1 mGluRs: Relevance to Schizophrenia Pathogenesis and Treatment

29 March 2020

cites work

1 reference

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Cellular and circuit mechanisms underlying spinocerebellar ataxias

23 May 2018

1 reference

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Inside story of Group I Metabotropic Glutamate Receptors (mGluRs).

23 May 2018

1 reference

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Are Type 1 metabotropic glutamate receptors a viable therapeutic target for the treatment of cerebellar ataxia?

23 May 2018

1 reference

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

23 May 2018

1 reference

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De novo point mutations in patients diagnosed with ataxic cerebral palsy.

23 May 2018

1 reference

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PRESTO-Tango as an open-source resource for interrogation of the druggable human GPCRome.

23 May 2018

1 reference

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GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Identification of Nitazoxanide as a Group I Metabotropic Glutamate Receptor Negative Modulator for the Treatment of Neuropathic Pain: An In Silico Drug Repositioning Study

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Metabotropic glutamate receptors as drug targets: what's new?

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Structure of a class C GPCR metabotropic glutamate receptor 1 bound to an allosteric modulator

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Kinetics and mechanism of G protein-coupled receptor activation.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Glutamate, glutamate receptors, and downstream signaling pathways

23 May 2018

1 reference

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De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

mGluR1/TRPC3-mediated Synaptic Transmission and Calcium Signaling in Mammalian Central Neurons.

23 May 2018

1 reference

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Dimers and beyond: The functional puzzles of class C GPCRs.

23 May 2018

1 reference

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Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Surface clustering of metabotropic glutamate receptor 1 induced by long Homer proteins

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

BAY36-7620: a potent non-competitive mGlu1 receptor antagonist with inverse agonist activity

23 May 2018

1 reference

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mGluR1 in cerebellar Purkinje cells essential for long-term depression, synapse elimination, and motor coordination

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Homer regulates the association of group 1 metabotropic glutamate receptors with multivalent complexes of homer-related, synaptic proteins

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Motor deficit and impairment of synaptic plasticity in mice lacking mGluR1.

23 May 2018

1 reference

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Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Prolonged Type 1 Metabotropic Glutamate Receptor Dependent Synaptic Signaling Contributes to Spino-Cerebellar Ataxia Type 1.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

The synaptic targeting of mGluR1 by its carboxyl-terminal domain is crucial for cerebellar function.

15 August 2018

1 reference

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Compensatory molecular and functional mechanisms in nervous system of the Grm1(crv4) mouse lacking the mGlu1 receptor: a model for motor coordination deficits

15 August 2018

1 reference

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The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1).

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Disruption of prepulse inhibition in mice lacking mGluR1.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Climbing fiber activation of metabotropic glutamate receptors on cerebellar purkinje neurons

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Group I metabotropic glutamate receptor activation increases phosphorylation of cAMP response element-binding protein, Elk-1, and extracellular signal-regulated kinases in rat dorsal striatum

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5591020

Chemical Excitation of Spinal Neurones

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28886343

12 December 2020

inferred from PubMed ID database lookup

Frequency detection and temporally dispersed synaptic signal association through a metabotropic glutamate receptor pathway

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28886343

12 December 2020

inferred from PubMed ID database lookup

Homer proteins regulate coupling of group I metabotropic glutamate receptors to N-type calcium and M-type potassium channels

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28886343

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2017.08.005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28886343%20AND%20SRC:MED&resulttype=core&format=json

29 March 2020

PubMed publication ID

28886343

1 reference