Literature DB >> 3225819

A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto).

D W Cox1, D E Wills, F Quan, P N Ray.   

Abstract

Apolipoprotein CII Toronto is a mutant non-functional apo CII resulting in apo CII deficiency. A portion of the mutant apo CII gene was cloned into lambda gt10 and subclones were sequenced. A deletion of one base was found in the codon for amino acid Thr68, resulting in alteration of six amino acids and premature termination of the protein at amino acid 74.

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Year:  1988        PMID： 3225819      PMCID： PMC1051556          DOI： 10.1136/jmg.25.10.649

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  23 in total

1.  Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis.

Authors:  D W Cox; W C Breckenridge; J A Little
Journal:  N Engl J Med       Date:  1978-12-28       Impact factor: 91.245

2.  DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA.

Authors:  L Madisen; D I Hoar; C D Holroyd; M Crisp; M E Hodes
Journal:  Am J Med Genet       Date:  1987-06

3.  Screening lambdagt recombinant clones by hybridization to single plaques in situ.

Authors:  W D Benton; R W Davis
Journal:  Science       Date:  1977-04-08       Impact factor: 47.728

4.  New case of apoprotein C-II deficiency.

Authors:  A Capurso; L Pace; L Bonomo; A Catapano; G Schilirò; M La Rosa; G Assmann
Journal:  Lancet       Date:  1980-02-02       Impact factor: 79.321

5.  An improved strategy for rapid direct sequencing of both strands of long DNA molecules cloned in a plasmid.

Authors:  L H Guo; R C Yang; R Wu
Journal:  Nucleic Acids Res       Date:  1983-08-25       Impact factor: 16.971

6.  Familial apolipoprotein CII deficiency: plasma lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion.

Authors:  N E Miller; S N Rao; P Alaupovic; N Noble; J Slack; J D Brunzell; B Lewis
Journal:  Eur J Clin Invest       Date:  1981-02       Impact factor: 4.686

7.  Combined deficiency of apolipoprotein C-II and lipoprotein lipase in familial hyperchylomicronemia.

Authors:  A F Stalenhoef; A F Casparie; P N Demacker; J T Stouten; J A Lutterman; A van 't Laar
Journal:  Metabolism       Date:  1981-09       Impact factor: 8.694

8.  Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency.

Authors:  T Yamamura; H Sudo; K Ishikawa; A Yamamoto
Journal:  Atherosclerosis       Date:  1979-09       Impact factor: 5.162

9.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

10.  Hypertriglyceridemia associated with deficiency of apolipoprotein C-II.

Authors:  W C Breckenridge; J A Little; G Steiner; A Chow; M Poapst
Journal:  N Engl J Med       Date:  1978-06-08       Impact factor: 91.245
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  6 in total

1.  Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

Authors:  M Krawczak; D N Cooper
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

Review 2.  Genetic basis of lipoprotein disorders.

Authors:  J L Breslow
Journal:  J Clin Invest       Date:  1989-08       Impact factor: 14.808

3.  Apo C-II deficiency type Bari.

Authors:  A Capurso; F Resta; F Turturro; A M Colacicco; C Crecchio; G Pepe
Journal:  Eur J Epidemiol       Date:  1992-05       Impact factor: 8.082

Review 4.  Biochemistry and pathophysiology of intravascular and intracellular lipolysis.

Authors:  Stephen G Young; Rudolf Zechner
Journal:  Genes Dev       Date:  2013-03-01       Impact factor: 11.361

5.  Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Authors:  Carine Ayoub; Yara Azar; Dina Maddah; Youmna Ghaleb; Sandy Elbitar; Yara Abou-Khalil; Selim Jambart; Mathilde Varret; Catherine Boileau; Petra El Khoury; Marianne Abifadel
Journal:  Front Genet       Date:  2022-08-19       Impact factor: 4.772

6.  A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.

Authors:  Jingjing Jiang; Yuhui Wang; Yan Ling; Abudurexiti Kayoumu; George Liu; Xin Gao
Journal:  Lipids Health Dis       Date:  2016-01-16       Impact factor: 3.876
  6 in total

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