User profiles for "author:Hideshi Kawakami"

Hideshi Kawakami

Hiroshima Univeristy
Verified email at hiroshima-u.ac.jp
Cited by 13019

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32. 1

Y Kawaguchi, T Okamoto, M Taniwaki, M Aizawa… - Nature …, 1994 - nature.com
We have identified a novel gene containing CAG repeats and mapped it to chromosome
14q32. 1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the …

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

W Satake, Y Nakabayashi, I Mizuta, Y Hirota, C Ito… - Nature …, 2009 - nature.com
To identify susceptibility variants for Parkinson's disease (PD), we performed a genome-
wide association study (GWAS) and two replication studies in a total of 2,011 cases and …

Mutations of optineurin in amyotrophic lateral sclerosis

H Maruyama, H Morino, H Ito, Y Izumi, H Kato… - Nature, 2010 - nature.com
Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder
characterized by degeneration of motor neurons of the primary motor cortex, brainstem and …

Collaborative analysis of α-synuclein gene promoter variability and Parkinson disease

DM Maraganore, M De Andrade, A Elbaz, MJ Farrer… - Jama, 2006 - jamanetwork.com
ContextIdentification and replication of susceptibility genes for Parkinson disease at the
population level have been hampered by small studies with potential biases. α-Synuclein …

[HTML][HTML] Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells

K Muguruma, A Nishiyama, H Kawakami, K Hashimoto… - Cell reports, 2015 - cell.com
During cerebellar development, the main portion of the cerebellar plate neuroepithelium
gives birth to Purkinje cells and interneurons, whereas the rhombic lip, the germinal zone at …

High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease

H Tamura, H Kawakami, T Kanamoto, T Kato… - Journal of the …, 2006 - Elsevier
The clinical and genetic relationships between Alzheimer's disease (AD) and glaucoma
remain obscure. The aim of this study was to determine the prevalence of open-angle …

Molecular features of the CAG repeats and clinical manifestation of Machado—Joseph disease

H Maruyama, S Nakamura, Z Matsuyama… - Human molecular …, 1995 - academic.oup.com
Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration
mapped to chromosome 14q32. 1. The CAG expansions of the MJD1 gene was identified as …

Lack of an association of estrogen receptor α gene polymorphisms and transcriptional activity with Alzheimer disease

H Maruyama, H Toji, CR Harrington… - Archives of …, 2000 - jamanetwork.com
Background Long-term cognitive decline in postmenopausal women is associated with
aging and Alzheimer disease (AD). Estrogen replacement therapy has been reported to …

[HTML][HTML] Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis

S Nakazawa, D Oikawa, R Ishii, T Ayaki… - Nature …, 2016 - nature.com
Optineurin (OPTN) mutations cause neurodegenerative diseases, including amyotrophic
lateral sclerosis (ALS) and glaucoma. Although the ALS-associated E478G mutation in the …

Optineurin and amyotrophic lateral sclerosis

H Maruyama, H Kawakami - Geriatrics & gerontology …, 2013 - Wiley Online Library
Amyotrophic lateral sclerosis is a devastating disease, and thus it is important to identify the
causative gene and resolve the mechanism of the disease. We identified optineurin as a …