@article{db4a3860970249a18e4794eb44a2ad68,
title = "Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation",
abstract = "We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case.",
keywords = "Amyotrophic lateral sclerosis, Cu/Zn superoxide dismutase, Homozygous mutation",
author = "Masaaki Kato and Masashi Aoki and Michiya Ohta and Makiko Nagai and Fumiko Ishizaki and Shigenobu Nakamura and Yasuto Itoyama",
note = "Funding Information: This study was supported by Grant-in-Aids for Scientific Research (B: 11470144) and for Encouragement of Young Scientists (11770323) from the Ministry of Education, Science, Sports and Culture of Japan. We are indebted to the family for their cooperation and support. We would like to thank Mr Bell B, for reading the manuscript.",
year = "2001",
month = oct,
day = "26",
doi = "10.1016/S0304-3940(01)02212-1",
language = "English",
volume = "312",
pages = "165--168",
journal = "Neuroscience Letters",
issn = "0304-3940",
publisher = "Elsevier Ireland Ltd",
number = "3",
}