(Q38703945)

English

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

scientific article

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28493438%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28493438%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

0 references

Alanyl-tRNA synthetase 1

1 reference

GOA release 2020-03-11

alanyl-tRNA aminoacylation

1 reference

GOA release 2020-03-11

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28493438%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

Ganeshwaran H Mochida

13

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Ganeshwaran H Mochida

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20 March 2020

author name string

Jiang Wu

2

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20 March 2020

Patricia Galvin-Parton

3

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20 March 2020

Jody Weiss

4

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20 March 2020

Mary R Andriola

5

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Europe PubMed Central

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20 March 2020

R Sean Hill

6

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20 March 2020

Dylan J Vaughan

7

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20 March 2020

Malak El-Quessny

8

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20 March 2020

Brenda J Barry

9

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Europe PubMed Central

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20 March 2020

Jennifer N Partlow

10

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20 March 2020

A James Barkovich

11

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20 March 2020

Jiqiang Ling

12

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20 March 2020

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publication date

23 June 2017

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20 March 2020

1 reference

Europe PubMed Central

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20 March 2020

38

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20 March 2020

10

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20 March 2020

1348-1354

1 reference

Europe PubMed Central

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20 March 2020

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

A novel AARS mutation in a family with dominant myeloneuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Deficiencies in tRNA synthetase editing activity cause cardioproteinopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Mutations in RARS cause hypomyelination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Aminoacyl-tRNA synthetases in medicine and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Essential nontranslational functions of tRNA synthetases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Paradox of mistranslation of serine for alanine caused by AlaRS recognition dilemma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

The role of aminoacyl-tRNA synthetases in genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Elucidation of tRNA-dependent editing by a class II tRNA synthetase and significance for cell viability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Aminoacyl-tRNA synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Probing the principles of amino acid selection using the alanyl-tRNA synthetase from Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5599341

16 September 2018

Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23250

21 January 2018

Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine,

1 reference

https://pubmed.ncbi.nlm.nih.gov/28493438

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.23250

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28493438%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28493438%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28493438%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

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