(Q28299479)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

4

1 reference

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29 December 2019

Eduard Gratacos

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Paulino Gómez-Puertas

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Nuria Casals

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

3

Eduardo López-Viñas

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

8

Beatriz Puisac

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

11

Juan Pie

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Patricia Carrasco

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Sebastian Menao

2

1 reference

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29 December 2019

Josep Clotet

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Adriana Y Sierra

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Fausto G Hegardt

10

1 reference

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29 December 2019

language of work or name

English

0 references

publication date

24 April 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

29 December 2019

published in

1 reference

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29 December 2019

volume

91

1 reference

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29 December 2019

issue

2

1 reference

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29 December 2019

page(s)

120-127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17459752%20AND%20SRC:MED&resulttype=core&format=json

Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Crystal structures of two bacterial 3-hydroxy-3-methylglutaryl-CoA lyases suggest a common catalytic mechanism among a family of TIM barrel metalloenzymes cleaving carbon-carbon bonds

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Investigation of the oligomeric status of the peroxisomal isoform of human 3-hydroxy-3-methylglutaryl-CoA lyase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Avian 3-hydroxy-3-methylglutaryl-CoA lyase: sensitivity of enzyme activity to thiol/disulfide exchange and identification of proximal reactive cysteines

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Automated docking of substrates to proteins by simulated annealing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007

Distributed automated docking of flexible ligands to proteins: Parallel applications of AutoDock 2.4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.03.007