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 (Q42260164)

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scientific article published on April 1997

Language	Label	Description	Also known as
English	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	scientific article published on April 1997

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

0 references

author name string

Pié J

1

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Casals N

2

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Casale CH

3

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Buesa C

4

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Mascaró C

5

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Barceló A

6

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Rolland MO

7

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Zabot T

8

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Haro D

9

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Eyskens F

10

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Divry P

11

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Hegardt FG

12

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

language of work or name

0 references

publication date

1 April 1997

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

Biochemical Journal

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Europe PubMed Central

PMC publication ID

19 October 2017

323 ( Pt 2)

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Europe PubMed Central

PMC publication ID

19 October 2017

329-335

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

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

1 reference

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Why do genes have introns?

1 reference

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26 October 2017

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency

1 reference

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The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element

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3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL): cloning and characterization of a mouse liver HL cDNA and subchromosomal mapping of the human and mouse HL genes

1 reference

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Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping

1 reference

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3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity

1 reference

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Exon recognition in vertebrate splicing

1 reference

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A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III.

1 reference

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A Subset of SR Proteins Activates Splicing of the Cardiac Troponin T Alternative Exon by Direct Interactions with an Exonic Enhancer

1 reference

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Presence of exon splicing silencers within human immunodeficiency virus type 1 tat exon 2 and tat-rev exon 3: evidence for inhibition mediated by cellular factors

1 reference

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Identification of positive and negative splicing regulatory elements within the terminal tat-rev exon of human immunodeficiency virus type 1.

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A 32-nucleotide exon-splicing enhancer regulates usage of competing 5' splice sites in a differential internal exon

1 reference

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

1 reference

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Physiological roles of ketone bodies as substrates and signals in mammalian tissues

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26 October 2017

Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts

1 reference

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26 October 2017

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients

1 reference

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26 October 2017

3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review

1 reference

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

1 reference

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26 October 2017

Nucleotide sequence and expression in Escherichia coli of the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene of Pseudomonas mevalonii

1 reference

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26 October 2017

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

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Cytokine gene expression: analysis using northern blotting, polymerase chain reaction and in situ hybridization

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Increased apolipoprotein E and c-fms gene expression without elevated interleukin 1 or 6 mRNA levels indicates selective activation of macrophage functions in advanced human atheroma

1 reference

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DNA sequencing with chain-terminating inhibitors

1 reference

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Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

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The role of exon sequences in splice site selection.

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Multiple splicing signals control alternative intron retention of bovine growth hormone pre-mRNA

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based on heuristic

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Evaluation of cysteine 266 of human 3-hydroxy-3-methylglutaryl-CoA lyase as a catalytic residue

1 reference

https://pubmed.ncbi.nlm.nih.gov/9163320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

1 reference

https://pubmed.ncbi.nlm.nih.gov/9163320

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inferred from PubMed ID database lookup

Purification and characterization of avian liver 3-hydroxy-3-methylglutaryl coenzyme A lyase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9163320

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3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9163320

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based on heuristic

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9163320

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inferred from PubMed ID database lookup

General splicing factor SF2/ASF promotes alternative splicing by binding to an exonic splicing enhancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/9163320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9163320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BJ3230329

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 October 2017

ResearchGate publication ID

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