Saitohin (STH) is located in the intron of the human gene for microtubule-associated protein tau. Q7R polymorphism has been identified in the STH gene. Some neurodegenerative disorders were found to be associated with the presence of certain STH allele. This study genotyped 37 subjects with diagnosis of Huntington's disease, but lacking mutations in HD, PRNP, JPH-3, and FTL genes for STH polymorphism. It was determined that Q allele of STH gene was over-represented in a tested group of patients (P gt Pt). Over-representation of Q allele in a group of patients might be considered as genetic risk factor for HD like diseases.
Keywords:
HD phenocopies / microtubule-associated protein tau / neurodegenerative diseases / peroxiredoxin 6 / polymorphism / Saitohin
Source:
International Journal of Neuroscience, 2008, 118, 3, 391-397
TY - JOUR
AU - Janković, N.
AU - Kemanović, M.
AU - Dimitrijević, Rajna
AU - Keckarević-Marković, Milica
AU - Dobričić, Valerija
AU - Savić-Pavićević, Dušanka
AU - Romac, Stanka
PY - 2008
UR - http://intor.torlakinstitut.com/handle/123456789/251
AB - Saitohin (STH) is located in the intron of the human gene for microtubule-associated protein tau. Q7R polymorphism has been identified in the STH gene. Some neurodegenerative disorders were found to be associated with the presence of certain STH allele. This study genotyped 37 subjects with diagnosis of Huntington's disease, but lacking mutations in HD, PRNP, JPH-3, and FTL genes for STH polymorphism. It was determined that Q allele of STH gene was over-represented in a tested group of patients (P gt Pt). Over-representation of Q allele in a group of patients might be considered as genetic risk factor for HD like diseases.
PB - Taylor & Francis Ltd, Abingdon
T2 - International Journal of Neuroscience
T1 - HD phenocopies - Possible role of saitohin gene
EP - 397
IS - 3
SP - 391
VL - 118
DO - 10.1080/00207450701593103
ER -
@article{
author = "Janković, N. and Kemanović, M. and Dimitrijević, Rajna and Keckarević-Marković, Milica and Dobričić, Valerija and Savić-Pavićević, Dušanka and Romac, Stanka",
year = "2008",
url = "http://intor.torlakinstitut.com/handle/123456789/251",
abstract = "Saitohin (STH) is located in the intron of the human gene for microtubule-associated protein tau. Q7R polymorphism has been identified in the STH gene. Some neurodegenerative disorders were found to be associated with the presence of certain STH allele. This study genotyped 37 subjects with diagnosis of Huntington's disease, but lacking mutations in HD, PRNP, JPH-3, and FTL genes for STH polymorphism. It was determined that Q allele of STH gene was over-represented in a tested group of patients (P gt Pt). Over-representation of Q allele in a group of patients might be considered as genetic risk factor for HD like diseases.",
publisher = "Taylor & Francis Ltd, Abingdon",
journal = "International Journal of Neuroscience",
title = "HD phenocopies - Possible role of saitohin gene",
pages = "397-391",
number = "3",
volume = "118",
doi = "10.1080/00207450701593103"
}
Janković, N., Kemanović, M., Dimitrijević, R., Keckarević-Marković, M., Dobričić, V., Savić-Pavićević, D.,& Romac, S. (2008). HD phenocopies - Possible role of saitohin gene.
International Journal of Neuroscience
Taylor & Francis Ltd, Abingdon., 118(3), 391-397.
https://doi.org/10.1080/00207450701593103
Janković N, Kemanović M, Dimitrijević R, Keckarević-Marković M, Dobričić V, Savić-Pavićević D, Romac S. HD phenocopies - Possible role of saitohin gene. International Journal of Neuroscience. 2008;118(3):391-397
Janković N., Kemanović M., Dimitrijević Rajna, Keckarević-Marković Milica, Dobričić Valerija, Savić-Pavićević Dušanka, Romac Stanka, "HD phenocopies - Possible role of saitohin gene" International Journal of Neuroscience, 118, no. 3 (2008):391-397,
https://doi.org/10.1080/00207450701593103 .
