Literature DB >> 1915857

Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.

H Klima1, A Tanaka, D Schnabel, T Nakano, M Schröder, K Suzuki, K Sandhoff.   

Abstract

Full-length cDNAs coding for the human GM2-activator protein has been isolated and characterized, and its genomic structure studied in two overlapping clones in lambda-EMBL-4 isolated from a human brain genomic library. Two different cDNAs were found that were identical to the 5'-terminus to nt 1311 (counted from the A of the initiation codon, ATG) including the entire protein coding sequence. However, they were entirely dissimilar in the 3'-non-coding sequences. The genomic clones covered 94% of the full-length cDNA sequence. Three introns were found. The last exon spans contiguously the carboxyl terminus of the protein and the entire 3'-untranslated region of one of the two cDNAs with different 3'-ends. The origin of the 3'-portion of the other cDNA clone is not clear at this time.

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Year:  1991        PMID： 1915857     DOI： 10.1016/0014-5793(91)81084-l

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  12 in total

1.  Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.

Authors:  Y Liu; A Hoffmann; A Grinberg; H Westphal; M P McDonald; K M Miller; J N Crawley; K Sandhoff; K Suzuki; R L Proia
Journal:  Proc Natl Acad Sci U S A       Date:  1997-07-22       Impact factor: 11.205

2.  A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.

Authors:  B Xie; W Wang; D J Mahuran
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

3.  Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.

Authors:  U Schepers; G Glombitza; T Lemm; A Hoffmann; A Chabas; P Ozand; K Sandhoff
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

4.  Cloning and sequence analysis of a cDNA clone coding for the mouse GM2 activator protein.

Authors:  G Bellachioma; J L Stirling; A Orlacchio; T Beccari
Journal:  Biochem J       Date:  1993-08-15       Impact factor: 3.857

5.  Complete localization of disulfide bonds in GM2 activator protein.

Authors:  C G Schütte; T Lemm; G J Glombitza; K Sandhoff
Journal:  Protein Sci       Date:  1998-04       Impact factor: 6.725

6.  Over-expression of a functionally active human GM2-activator protein in Escherichia coli.

Authors:  H Klima; A Klein; G van Echten; G Schwarzmann; K Suzuki; K Sandhoff
Journal:  Biochem J       Date:  1993-06-01       Impact factor: 3.857

7.  Molecular genetics of Tay-Sachs disease in Japan.

Authors:  A Tanaka; H Sakazaki; H Murakami; G Isshiki; K Suzuki
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.

Authors:  B Chen; B Rigat; C Curry; D J Mahuran
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

9.  Requirement of GM2 ganglioside activator for phospholipase D activation.

Authors:  S Nakamura; T Akisue; H Jinnai; T Hitomi; S Sarkar; N Miwa; T Okada; K Yoshida; S Kuroda; U Kikkawa; Y Nishizuka
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-13       Impact factor: 11.205

10.  Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.

Authors:  M Schröder; D Schnabel; R Hurwitz; E Young; K Suzuki; K Sandhoff
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132
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