LOSS-OF-FUNCTION MUTATIONS IN RAB39B ARE ASSOCIATED WITH TYPICAL EARLY-ONSET PARKINSON DISEASE

被引：72

作者：

Lesage, Suzanne ^{[1
]}

Bras, Jose ^{[4
]}

Cormier-Dequaire, Florence ^{[1
,2
]}

Condroyer, Christel ^{[1
]}

Nicolas, Aude ^{[1
]}

Darwent, Lee ^{[4
]}

Guerreiro, Rita ^{[4
]}

Majounie, Elisa ^{[5
]}

Federoff, Monica ^{[4
,5
]}

Heutink, Peter ^{[6
,7
]}

Wood, Nicholas W. ^{[4
]}

Gasser, Thomas ^{[6
,7
]}

Hardy, John ^{[4
]}

Tison, Francois ^{[8
,9
]}

Singleton, Andrew ^{[5
]}

Brice, Alexis ^{[1
,3
]}

机构：

[1] UPMC Univ Paris 06, Sorbonne Univ, Inst Cerveau & Moelle Epiniere, INSERM,ICM,U1127,CNRS,UMR 7225,UMR S 1127, Paris, France

[2] Ctr Invest Clin Pitie Neurosci CIC 1422, Paris, France

[3] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, Paris, France

[4] UCL Inst Neurol, Dept Mol Neurosci, London, England

[5] NIA, Lab Neurogenet, Bethesda, MD 20892 USA

[6] Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany

[7] German Ctr Neurodegenerat Dis, DZNE, Tubingen, Germany

[8] Univ Bordeaux, Inst Malad Neurodegenerat, Bordeaux, France

[9] CHU Bordeaux, Bordeaux, France

来源：

NEUROLOGY-GENETICS | 2015年 / 1卷 / 01期

关键词：

D O I：

10.1212/NXG.0000000000000009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：3

共 8 条

[1] Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability [J].

Andersen, Erica F. ;

Baldwin, Erin E. ;

Ellingwood, Sara ;

Smith, Rosemarie ;

Lamb, Allen N. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (07) :1795-1801

[2] Isolation and characterization of a human novel RAB (RAB39B) gene [J].

Cheng, H ;

Ma, Y ;

Ni, X ;

Jiang, M ;

Guo, L ;

Ying, K ;

Xie, Y ;

Mao, Y .

CYTOGENETIC AND GENOME RESEARCH, 2002, 97 (1-2) :72-75

[3] Parkinson's Disease Genes VPS35 and EIF4G1 Interact Genetically and Converge on α-Synuclein [J].

Dhungel, Nripesh ;

Eleuteri, Simona ;

Li, Ling-bo ;

Kramer, Nicholas J. ;

Chartron, Justin W. ;

Spencer, Brian ;

Kosberg, Kori ;

Fields, Jerel Adam ;

Stafa, Klodjan ;

Adame, Anthony ;

Lashuel, Hilal ;

Frydman, Judith ;

Shen, Kang ;

Masliah, Eliezer ;

Gitler, Aaron D. .

NEURON, 2015, 85 (01) :76-87

[4] Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly [J].

Giannandrea, Maila ;

Bianchi, Veronica ;

Mignogna, Maria Lidia ;

Sirri, Alessandra ;

Carrabino, Salvatore. ;

D'Elia, Errico ;

Vecellio, Matteo ;

Russo, Silvia ;

Cogliati, Francesca ;

Larizza, Lidia ;

Ropers, Hans-Hilger ;

Tzschach, Andreas ;

Kalscheuer, Vera ;

Oehl-Jaschkowitz, Barbara ;

Skinner, Cindy ;

Schwartz, Charles E. ;

Gecz, Jozef ;

Van Esch, Hilde ;

Raynaud, Martine ;

Chelly, Jamel ;

de Brouwer, Arjan P. M. ;

Toniolo, Daniela ;

D'Adamo, Patrizia .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (02) :185-195

[5]

Russo S, 2000, AM J MED GENET, V94, P376, DOI 10.1002/1096-8628(20001023)94:5<376::AID-AJMG6>3.0.CO

[6]

2-A

[7] Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains [J].

Vanmarsenille, Lieselot ;

Giannandrea, Maila ;

Fieremans, Nathalie ;

Verbeeck, Jelle ;

Belet, Stefanie ;

Raynaud, Martine ;

Vogels, Annick ;

Maennik, Katrin ;

Ounap, Katrin ;

Jacqueline, Vigneron ;

Briault, Sylvain ;

Van Esch, Hilde ;

D'Adamo, Patrizia ;

Froyen, Guy .

HUMAN MUTATION, 2014, 35 (03) :377-383

[8] Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology [J].

Wilson, Gabrielle R. ;

Sim, Joe C. H. ;

McLean, Catriona ;

Giannandrea, Maila ;

Galea, Charles A. ;

Riseley, Jessica R. ;

Stephenson, Sarah E. M. ;

Fitzpatrick, Elizabeth ;

Haas, Stefan A. ;

Pope, Kate ;

Hogan, Kirk J. ;

Gregg, Ronald G. ;

Bromhead, Catherine J. ;

Wargowski, David S. ;

Lawrence, Christopher H. ;

James, Paul A. ;

Churchyard, Andrew ;

Gao, Yujing ;

Phelan, Dean G. ;

Gillies, Greta ;

Salce, Nicholas ;

Stanford, Lynn ;

Marsh, Ashley P. L. ;

Mignogna, Maria L. ;

Hayflick, Susan J. ;

Leventer, Richard J. ;

Delatycki, Martin B. ;

Mellick, George D. ;

Kalscheuer, Vera M. ;

D'Adamo, Patrizia ;

Bahlo, Melanie ;

Amor, David J. ;

Lockhart, Paul J. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (06) :729-735

← 1 →