Literature DB >> 7837766

Molecular genetics of Tay-Sachs disease in Japan.

A Tanaka1, H Sakazaki, H Murakami, G Isshiki, K Suzuki.   

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Year:  1994        PMID： 7837766     DOI： 10.1007/bf00711597

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  24 in total

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

Authors:  H Klima; A Tanaka; D Schnabel; T Nakano; M Schröder; K Suzuki; K Sandhoff
Journal:  FEBS Lett       Date:  1991-09-09       Impact factor: 4.124

2.  Mutation in GM2-gangliosidosis B1 variant.

Authors:  K Ohno; K Suzuki
Journal:  J Neurochem       Date:  1988-01       Impact factor: 5.372

3.  The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene.

Authors:  A Tanaka; H Sakuraba; G Isshiki; K Suzuki
Journal:  Biochem Biophys Res Commun       Date:  1993-04-30       Impact factor: 3.575

4.  Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

Authors:  R Navon; E H Kolodny; H Mitsumoto; G H Thomas; R L Proia
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

5.  Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.

Authors:  B H Paw; S M Moskowitz; N Uhrhammer; N Wright; M M Kaback; E F Neufeld
Journal:  J Biol Chem       Date:  1990-06-05       Impact factor: 5.157

6.  Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.

Authors:  R Myerowitz; R Piekarz; E F Neufeld; T B Shows; K Suzuki
Journal:  Proc Natl Acad Sci U S A       Date:  1985-12       Impact factor: 11.205

7.  A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.

Authors:  M Schröder; D Schnabel; K Suzuki; K Sandhoff
Journal:  FEBS Lett       Date:  1991-09-23       Impact factor: 4.124

8.  A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.

Authors:  K Ohno; K Suzuki
Journal:  Biochem Biophys Res Commun       Date:  1988-05-31       Impact factor: 3.575

9.  Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

Authors:  B H Paw; M M Kaback; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

10.  GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient.

Authors:  A Tanaka; K Ohno; K Suzuki
Journal:  Biochem Biophys Res Commun       Date:  1988-10-31       Impact factor: 3.575
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  5 in total

1.  Structural basis of the GM2 gangliosidosis B variant.

Authors:  Fumiko Matsuzawa; Sei-ichi Aikawa; Hitoshi Sakuraba; Hoang Thi Ngoc Lan; Akemi Tanaka; Kousaku Ohno; Yuko Sugimoto; Haruaki Ninomiya; Hirofumi Doi
Journal:  J Hum Genet       Date:  2003-10-24       Impact factor: 3.172

2.  Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.

Authors:  M Joanne Lemieux; Brian L Mark; Maia M Cherney; Stephen G Withers; Don J Mahuran; Michael N G James
Journal:  J Mol Biol       Date:  2006-04-27       Impact factor: 5.469

3.  Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

Authors:  Akemi Tanaka; Lan Thi Ngcok Hoang; Yasuaki Nishi; Satoshi Maniwa; Makio Oka; Tsunekazu Yamano
Journal:  J Hum Genet       Date:  2003-10-18       Impact factor: 3.172

4.  Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.

Authors:  Mazal Karpati; Ephraim Gazit; Boleslaw Goldman; Amos Frisch; Roberto Colombo; Leah Peleg
Journal:  Neurogenetics       Date:  2003-11-27       Impact factor: 2.660

5.  Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Authors:  Li Ou; Sarah Kim; Chester B Whitley; Jeanine R Jarnes-Utz
Journal:  Mol Genet Metab Rep       Date:  2019-07-17
  5 in total

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