田中あけみ (Akemi Tanaka) - マイポータル - researchmap

基本情報

所属: 大阪市立大学大学院医学研究科臨床医科学専攻（生殖発達医学大講座）医学研究科准教授

学位: 医学博士
医学博士

J-GLOBAL ID: 200901070424404272
researchmap会員ID: 1000056046

研究キーワード

3

研究分野

2

学歴

4

受賞

2

1991年

大阪市長賞
1984年

大阪市長賞

MISC

32

Novel mutations including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease

A Tanaka, M Fujimaru, K Choeh, G Isshiki

JOURNAL OF HUMAN GENETICS 44(2) 91-95 1999年
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3 '-splice site selection and cause Sandhoff disease

M Fujimaru, A Tanaka, K Choeh, N Wakamatsu, H Sakuraba, G Isshiki

HUMAN GENETICS 103(4) 462-469 1998年10月
Screening of mucopolysaccharidoses with urine blotted filterpaper. chondroitinase A/C digestion-DMB microplate method

8 29-35 1998年
Mutations in the XPD gene leading to Xeroderma pigmentosum symptoms

T Kobayashi, Kuraoka, I, M Saijo, Y Nakatsu, A Tanaka, Y Someda, S Fukuro, K Tanaka

HUMAN MUTATION 9(4) 322-331 1997年
Gangliosidosis

28 373-378 1996年
I-cell disease

Molecular Medicine (Manual of Genetic Diseases) 32(臨時増刊) 132 1995年
Acid lipase deficiency

53(12) 3004 1995年
Gaucher disease, Tay Sachs disease, Sandhoff disease

Clinical Neuroscience 12(4) 412 1994年
Molecular genetics of Tay-Sachs disease in Japan

Journal of Inherited Metabolic Diseases 17 593 1994年
Long-term effects of bone marrow transplantation for inborn errors of metabolism : A study of four patients with lysosomal storage diseases

Acta Pediatrica Japonica 36 30 1994年
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

A TANAKA, H SAKURABA, G ISSHIKI, K SUZUKI

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 192(2) 539-546 1993年4月
Study of molecular genetics in GM₂-gangliosidosis : Tay-Sachs disease.

1993年
GM2-gangliosidosis B1 variant : Analysis of β-hexosaminidase α-gene mutations in 11 patients from a defined region in Portugal.

American Jounal of Human Genetics 1991年
Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.

Annals of Neurology 1991年
Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.

Federation of Europian Biochemical Societies Letters 1991年
Expression of the β-hexosaminidase α subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.

The Journal of Biological Chemistry 1991年
Variation of lysosomal enzyme activity with gestational age in chorionic villi.

Journal of Inherited Metabolic Diseases 1990年
A new point mutation within exon 5 of β-hexosaminidase α gene in a Japanese infant with Tay-Sachs disease.

Annals of Neurology 1990年
A new point mutation in the β-hexosaminidase α subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).

American Journal of Human Genetics 1990年
GM2-gangliosidosis B1 variant : Analysis of β-hexosaminidase α gene abnormalities in seven patients.

American Journal of Human Genetics 1990年

もっとみる

書籍等出版物

4

Congenital disorders of amino acid metabolism

1997年
Tay-Sachs disease

1996年
GM₂ gangliosidosis

Methods of Clinical DNA Diagnosis 1995年
GM₂-gangliosidosis

1995年

所属学協会

8

Works(作品等)

1

遺伝子治療

共同研究・競争的資金等の研究課題

7