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Titolo:
LATE-ONSET G(M2) GANGLIOSIDOSIS - ASHKENAZI JEWISH FAMILY WITH AN EXON-5 MUTATION (TYR(180)-]HIS) IN THE HEX-A ALPHA-CHAIN GENE
Autore:
DEGASPERI R; SOSA MAG; BATTISTINI S; YERETSIAN J; RAGHAVAN S; ZELNIK N; LESHINSKY E; KOLODNY EH;
Indirizzi:
NYU,SCH MED,DEPT NEUROL,550 1ST AVE NEW YORK NY 10016 NYU,SCH MED,DEPT NEUROL NEW YORK NY 10016
Titolo Testata:
Neurology
fascicolo: 2, volume: 47, anno: 1996,
pagine: 547 - 552
SICI:
0028-3878(1996)47:2<547:LGG-AJ>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
TAY-SACHS-DISEASE; HUMAN BETA-HEXOSAMINIDASE; ADULT GM2 GANGLIOSIDOSIS; EXTENSIVE HOMOLOGY; SUBUNIT; IDENTIFICATION; JEWS; FORM; DNA; BIOSYNTHESIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
R. Degasperi et al., "LATE-ONSET G(M2) GANGLIOSIDOSIS - ASHKENAZI JEWISH FAMILY WITH AN EXON-5 MUTATION (TYR(180)-]HIS) IN THE HEX-A ALPHA-CHAIN GENE", Neurology, 47(2), 1996, pp. 547-552

Abstract

Late-onset G(M2) gangliosidosis is a variant form of Tay-Sachs disease characterized by onset of symptoms and signs in adolescence or in early adult life. The deficiency of beta-hexosaminidase A (Hex A) in this form of G(M2) gangliosidosis has been invariably associated with thepresence of the Gly(269) --> Ser substitution in the alpha-chain. We found gangliosidosis who were negative for the two siblings of Ashkenazi Jewish descent diagnosed with late-onset G(M2) Gly(269) --> Ser mutation. Analysis of the HEXA. gene showed that they were compound heterozygotes for the functionally silent 4-bp insertion in exon 11, typical of the infantile form of the disease and for a novel mutation, T-538--> C, resulting in the missense Tyr(180) --> His. Expression studiesin COS-7 cells suggested that the effect of this mutation was to decrease the stability of the a-chain at physiologic temperatures and therefore to indirectly affect the formation of mature Hex A.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 19:43:51