Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria-Reference-Cited by-同舟云学术

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

Published:2003-07 Issue:5 Volume:26 Page:433-441
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Pospíšilová E.¹,Mrázová L.²,Hrdá J.²,Martincová O.²,Zeman J.³

Affiliation:

1. General Faculty Hospital; Institute of Inherited Metabolic Diseases; Ke Karlovu 2 Prague 2 CZ 128 08 Czech Republic

2. ; Institute of Inherited Metabolic Diseases, General Faculty Hospital and 1st Faculty of Medicine; Charles University; Prague Czech Republic

3. ; Centre for Integrated Genomics, 1st Faculty of Medicine; Charles University; Prague Czech Republic

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1025169210121/fullpdf

Reference25 articles.

1. 3-Hydroxy-3-methyglutaryl-CoA lyase deficiency: biochemical studies and family investigation of four generations;Barash;J Inherit Metab Dis,1990

2. Separation of lymphocytes from blood and bone marrow;Boyum;Scand J Clin Lab Invest,1968

3. Aberrantly spliced mRNA of the 3-hydroxy-3-methyglutaryl-CoA lyase (HL) deficiency with a donor splice-site point mutation produce hereditary HL deficiency;Buesa;J Lipid Res,1996

4. A nonsense mutation in the exon 2 of the 3-hydroxy-3-methyglutaryl-CoA lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methyglutaric aciduria in European Mediterranean patients;Casale;Arch Biochem Biophys,1998

5. A two-base deletion in exon 6 of the 3-hydroxy-3-methyglutaryl-CoA lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methyglutaric aciduria;Casals;J Lipid Res,1997

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1. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces;Orphanet Journal of Rare Diseases;2020-02-14

2. Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release;Molecular Neurobiology;2015-06-23

3. Disruption of redox homeostasis and histopathological alterations caused by in vivo intrastriatal administration of D-2-hydroxyglutaric acid to young rats;Neuroscience;2014-09

4. Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency as compared to liver;International Journal of Developmental Neuroscience;2009-03-13

5. Molecular genetics of HMG-CoA lyase deficiency;Molecular Genetics and Metabolism;2007-11

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