TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

Author:

van Blitterswijk Marka,Mullen Bianca,Nicholson Alexandra M.,Bieniek Kevin F.,Heckman Michael G.,Baker Matthew C.,DeJesus-Hernandez Mariely,Finch NiCole A.,Brown Patricia H.,Murray Melissa E.,Hsiung Ging-Yuek R.,Stewart Heather,Karydas Anna M.,Finger Elizabeth,Kertesz Andrew,Bigio Eileen H.,Weintraub Sandra,Mesulam Marsel,Hatanpaa Kimmo J.,White III Charles L.,Strong Michael J.,Beach Thomas G.,Wszolek Zbigniew K.,Lippa Carol,Caselli Richard,Petrucelli Leonard,Josephs Keith A.,Parisi Joseph E.,Knopman David S.,Petersen Ronald C.,Mackenzie Ian R.,Seeley William W.,Grinberg Lea T.,Miller Bruce L.,Boylan Kevin B.,Graff-Radford Neill R.,Boeve Bradley F.,Dickson Dennis W.,Rademakers Rosa

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Reference30 articles.

1. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77(4):639–646. doi: 10.1016/j.neuron.2013.02.004

2. Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M (2006) Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442(7105):916–919. doi: 10.1038/nature05016

3. Brady OA, Zheng Y, Murphy K, Huang M, Hu F (2013) The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function. Hum Mol Genet 22(4):685–695. doi: 10.1093/hmg/dds475

4. Chen-Plotkin AS, Unger TL, Gallagher MD, Bill E, Kwong LK, Volpicelli-Daley L, Busch JI, Akle S, Grossman M, Van Deerlin V, Trojanowski JQ, Lee VM (2012) TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways. J Neurosci 32(33):11213–11227. doi: 10.1523/JNEUROSCI.0521-12.2012

5. Cruchaga C, Graff C, Chiang HH, Wang J, Hinrichs AL, Spiegel N, Bertelsen S, Mayo K, Norton JB, Morris JC, Goate A (2011) Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Arch Neurol 68(5):581–586. doi: 10.1001/archneurol.2010.350

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