Reactome: A Curated Pathway Database
THIS SITE IS USED FOR CURATION AND TESTING
IT IS NOT STABLE, IS LINKED TO AN INCOMPLETE DATA SET, AND IS NOT MONITORED FOR PERFORMANCE. WE STRONGLY RECOMMEND THE USE OF OUR PUBLIC SITE

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Name Email address

Details on Person The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

Class:IdLiteratureReference:3700950
_displayNameThe major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase
_timestamp2013-06-11 12:43:47
author[Person:3700859] Myerowitz, R
[Person:3700856] Costigan, F C
created[InstanceEdit:3700835] Jassal, B, 2013-06-11
journalJ. Biol. Chem.
pages18587-9
pubMedIdentifier2848800
titleThe major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase
volume263
year1988
(literatureReference)[FailedReaction:3656259] Defective HEXA does not cleave the terminal GalNAc from DS [Homo sapiens]
[FailedReaction:9035976] Defective HEXA does not cleave the terminall GalNAc from small HA fragments [Homo sapiens]
[FailedReaction:9035978] Defective HEXA does not cleave the terminal GalNAc from keratan sulfate [Homo sapiens]
[Change default viewing format]
No pathways have been reviewed or authored by The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase (3700950)