DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients

被引：10

作者：

Sironi, Francesca ^{[1
]}

Primignani, Paola ^{[1
]}

Ricca, Sara ^{[1
]}

Tunesi, Sara ^{[2
]}

Zini, Michela ^{[3
]}

Tesei, Silvana ^{[3
]}

Cilia, Roberto ^{[3
]}

Pezzoli, Gianni ^{[3
]}

Seia, Manuela ^{[1
]}

Goldwurm, Stefano ^{[3
]}

机构：

[1] Fdn IRCCS Osped Maggiore Policlin Mangiagalli & R, Med Genet Lab, Milan, Italy

[2] Univ Milan, Inst Med Stat & Biometry GA Maccaro, Milan, Italy

[3] Ist Clin Perfezionamento, Parkinson Inst, I-20126 Milan, Italy

来源：

NEUROSCIENCE LETTERS | 2013年 / 557卷

关键词：

DJ1; Early Onset Parkinson Disease; Mutation analysis; MUTATION ANALYSIS; DJ-1; MUTATIONS; PINK1; GENES; PARK7; RARE;

D O I：

10.1016/j.neulet.2013.10.048

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

We analyzed the DJ1 gene in a large consecutive series (N= 163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset <= 40 years of age) patients and 100 healthy controls (mean age 64 +/- 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified. (C) 2013 The Authors. Published by Elsevier Ireland Ltd. Open access underCC BY-NC-SA license

引用

页码：165 / 170

页数：6

共 50 条

[21] Secretion of DJ-1 into the serum of patients with Parkinson's disease
Maita, Chinatsu
Tsuji, Sachiko
Yabe, Ichiro
Hamada, Shinsuke
Ogata, Akihiko
Maita, Hiroyhsi
Iguchi-Ariga, Sanae M. M.
Sasaki, Hidenao
Ariga, Hiroyoshi
NEUROSCIENCE LETTERS, 2008, 431 (01) : 86 - 89
[22] Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease
Yonova-Doing, Ekaterina
Atadzhanov, Masharip
Quadri, Marialuisa
Kelly, Paul
Shawa, Nyambura
Musonda, Sheila T. S.
Simons, Erik J.
Breedveld, Guido J.
Oostra, Ben A.
Bonifati, Vincenzo
PARKINSONISM & RELATED DISORDERS, 2012, 18 (05) : 567 - 571
[23] Retinitis pigmentosa in DJ1-- associated early-onset Parkinson's disease: A phenotypic expansion
Mahale, Rohan
Chadha, Deepak
Padmanabha, Hansashree
Nashi, Saraswati
PARKINSONISM & RELATED DISORDERS, 2024, 127
[24] Genetic Study of Early Onset Parkinson's Disease in Cyprus
Manneh, Rana Abu
Chairta, Paraskevi P.
Mitsi, Ellie
Loizidou, Maria A.
Georgiou, Andrea N.
Christou, Yiolanda P.
Pantzaris, Marios
Zamba-Papanicolaou, Eleni
Hadjisavvas, Andreas
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (23)
[25] Differential DJ-1 gene expression in Parkinson's disease
Kumaran, Ravindran
Vandrovcova, Jana
Luk, Connie
Sharma, Simone
Renton, Alan
Wood, Nicholas W.
Hardy, John A.
Lees, Andrew J.
Bandopadhyay, Rina
NEUROBIOLOGY OF DISEASE, 2009, 36 (02) : 393 - 400
[26] A genetic analysis of Chinese patients with early-onset Parkinson? s disease
Liu, Qi
Jiang, Bin
Zou, Min
Yu, Zi-Wen
Wang, Jing
Xu, Chu-Chuan
Lin, Si-Ning
Zheng, Kun-Mu
Xiao, Nai-An
Bi, Min
Li, Jian-Peng
NEUROSCIENCE LETTERS, 2022, 790
[27] Redox modulatory role of DJ-1 in Parkinson's disease
Alshammari, Qamar A.
BIOGERONTOLOGY, 2025, 26 (02)
[28] Role of DJ-1 in Parkinson's disease
Lev, Nirit
Roncevich, Dusan
Ickowicz, Debby
Melamed, Eldad
Offen, Daniel
JOURNAL OF MOLECULAR NEUROSCIENCE, 2006, 29 (03) : 215 - 225
[29] The Clinical Significance of DJ1 and L1CAM Serum Level Monitoring in Patients with Endometrial Cancer
Bednarikova, Marketa
Vinklerova, Petra
Gottwaldova, Jana
Ovesna, Petra
Hausnerova, Jitka
Minar, Lubos
Felsinger, Michal
Valik, Dalibor
Cermakova, Zdenka
Weinberger, Vit
JOURNAL OF CLINICAL MEDICINE, 2021, 10 (12)
[30] Methylation status of DJ-1 in leukocyte DNA of Parkinson’s disease patients
Yuyan Tan
Li Wu
Dunhui Li
Xiaoli Liu
Jianqing Ding
Shengdi Chen
Translational Neurodegeneration, 5

← 1 2 3 4 5 →