C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity (Q28299479)

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29 December 2019

title

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

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4

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Eduard Gratacos

7

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29 December 2019

Paulino Gómez-Puertas

9

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Nuria Casals

12

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3

Eduardo López-Viñas

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29 December 2019

8

Beatriz Puisac

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11

Juan Pie

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29 December 2019

author name string

Patricia Carrasco

1

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29 December 2019

Sebastian Menao

2

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29 December 2019

Josep Clotet

5

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Adriana Y Sierra

6

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Fausto G Hegardt

10

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29 December 2019

language of work or name

English

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publication date

24 April 2007

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Molecular Genetics and Metabolism

29 December 2019

published in

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volume

91

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issue

2

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29 December 2019

page(s)

120-127

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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

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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

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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

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

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

7 January 2021

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

7 January 2021

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

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

7 January 2021

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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

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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

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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

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

7 January 2021

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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

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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

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

7 January 2021

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

7 January 2021

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

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

7 January 2021

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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.

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

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Automated docking of substrates to proteins by simulated annealing

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