(Q33901811)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

title

Lack of neuropathy-related phenotypes in hint1 knockout mice (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Kevin L Seburn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Kathryn H Morelli

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Albena Jordanova

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

publication date

1 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neuropathology & Experimental Neurology

20 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

page(s)

693-701

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

20 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4098130/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Histidine triad nucleotide-binding protein 1 (HINT1) regulates Ca(2+) signaling in mouse fibroblasts and neuronal cells via store-operated Ca(2+) entry pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Side chain independent recognition of aminoacyl adenylates by the Hint1 transcription suppressor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Age, experience and genetic background influence treadmill walking in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Gait analysis detects early changes in transgenic SOD1(G93A) mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Deletion of histidine triad nucleotide-binding protein 1/PKC-interacting protein in mice enhances cell growth and carcinogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Adenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Suppression of microphthalmia transcriptional activity by its association with protein kinase C-interacting protein 1 in mast cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Neuromyotonia in hereditary motor neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4098130

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

5 July 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000085

Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000085

Hint1 is a haplo-insufficient tumor suppressor in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000085

Increased anxiety-related behaviour in Hint1 knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000085

Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000085

Nerve Conduction Abnormalities and Neuromyotonia in Genetically Engineered Mouse Models of Human Hereditary Neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000085

A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000085

A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0000000000000085

Neuromyotonia in mice with hereditary myelinopathies

21 January 2018

1 reference

12 December 2020

Mechanism of synthesis of adenosine(5')tetraphospho(5')adenosine (AppppA) by aminoacyl-tRNA synthetases

1 reference

12 December 2020

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia

1 reference

12 December 2020

Neuromuscular disease models and analysis

1 reference

12 December 2020

10.1097/NEN.0000000000000085

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

PubMed publication ID

24918641

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24918641%20AND%20SRC:MED&resulttype=core&format=json