Nasu-Hakola disease and primary microglial dysfunction

被引：43
作者：
Bianchin, Marino M. [1 ]
Martin, Kelin C. [1 ]
de Souza, Ana C. [1 ]
de Oliveira, Marina A. [1 ]
de Mello Rieder, Carlos R. [1 ]
机构：
[1] Hosp Clin Porto Alegre, Div Neurol, Porto Alegre, RS, Brazil
来源：
NATURE REVIEWS NEUROLOGY | 2010年 / 6卷 / 09期
关键词：
BONE-CYSTS; MYELOID CELLS-2; DEMENTIA; DAP12; TREM2; CNS; DIFFERENTIATION; MUTATIONS; FEATURES;
D O I：
10.1038/nrneurol.2010.17-c1
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：1 / 2
页数：2
相关论文
共 15 条
[1]   The genetic causes of basal ganglia calcification, dementia, and bone cysts:: DAP12 and TREM2 [J].
Bianchin, MM ;
Lima, JE ;
Natel, J ;
Sakamoto, AC .
NEUROLOGY, 2006, 66 (04) :615-616
[2]   Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy - PLOSL): A dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects [J].
Bianchin, MM ;
Capella, HM ;
Chaves, DL ;
Steindel, M ;
Grisard, EC ;
Ganev, GG ;
da Silva, JP ;
Neto, ES ;
Poffo, MA ;
Walz, R ;
Carlotti, CG ;
Sakamoto, AC .
CELLULAR AND MOLECULAR NEUROBIOLOGY, 2004, 24 (01) :1-24
[3]   Impaired differentiation of osteoclasts in TREM-2-deficient individuals [J].
Cella, M ;
Buonsanti, C ;
Strader, C ;
Kondo, T ;
Salmaggi, A ;
Colonna, M .
JOURNAL OF EXPERIMENTAL MEDICINE, 2003, 198 (04) :645-651
[4]   Mutations in TREM2 Lead to Pure Early-Onset Dementia Without Bone Cysts [J].
Chouery, Eliane ;
Delague, Valerie ;
Bergougnoux, Anne ;
Koussa, Salam ;
Serre, Jean-Louis ;
Megarbane, Andre .
HUMAN MUTATION, 2008, 29 (09) :E194-E204
[5]   Trems in the immune system and beyond [J].
Colonna, M .
NATURE REVIEWS IMMUNOLOGY, 2003, 3 (06) :445-453
[6]   Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS [J].
Kiialainen, A ;
Hovanes, K ;
Paloneva, J ;
Kopra, O ;
Peltonen, L .
NEUROBIOLOGY OF DISEASE, 2005, 18 (02) :314-322
[7]   Essential role of the microglial triggering receptor expressed on myeloid cells-2 (TREM2) for central nervous tissue immune homeostasis [J].
Neumann, Harald ;
Takahashi, Kazuya .
JOURNAL OF NEUROIMMUNOLOGY, 2007, 184 (1-2) :92-99
[8]   DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features [J].
Paloneva, J ;
Mandelin, J ;
Kiialainen, A ;
Böhling, T ;
Prudlo, J ;
Hakola, P ;
Hatia, M ;
Konttinen, YT ;
Peltonen, L .
JOURNAL OF EXPERIMENTAL MEDICINE, 2003, 198 (04) :669-675
[9]   Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype [J].
Paloneva, J ;
Manninen, T ;
Christman, G ;
Hovanes, K ;
Mandelin, J ;
Adolfsson, R ;
Bianchin, M ;
Bird, T ;
Miranda, R ;
Salmaggi, A ;
Tranebjærg, L ;
Konttinen, Y ;
Peltonen, L .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (03) :656-662
[10]   Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts [J].
Paloneva, J ;
Kestilä, M ;
Wu, J ;
Salminen, A ;
Böhling, T ;
Ruotsalainen, V ;
Hakola, P ;
Bakker, ABH ;
Phillips, JH ;
Pekkarinen, P ;
Lanier, LL ;
Timonen, T ;
Peltonen, L .
NATURE GENETICS, 2000, 25 (03) :357-361
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