PMC Links for OMIM (Select 613413) - PMC

Select item 58410381.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

Cas Simons, David Dyment, Stephen J Bent, Joanna Crawford, Marc D’Hooghe, Alfried Kohlschütter, Sunita Venkateswaran, Guy Helman, Bwee-Tien Poll-The, Christine C Makowski, Yoko Ito, Kristin Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J Taft, Care4Rare Consortium, Marjo S van der Knaap, Nicole I Wolf

Brain. 2017 Dec; 140(12): 3105–3111. Published online 2017 Nov 29. doi: 10.1093/brain/awx314

PMCID:: PMC5841038

Abstract Article PDF–516K

Select item 56736192.

A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression

Michael D. Gallagher, Marijan Posavi, Peng Huang, Travis L. Unger, Yosef Berlyand, Analise L. Gruenewald, Alessandra Chesi, Elisabetta Manduchi, Andrew D. Wells, Struan F.A. Grant, Gerd A. Blobel, Christopher D. Brown, Alice S. Chen-Plotkin

Am J Hum Genet. 2017 Nov 2; 101(5): 643–663. Published online 2017 Oct 19. doi: 10.1016/j.ajhg.2017.09.004

PMCID:: PMC5673619

Abstract Article PDF–4.4M

Select item 55588613.

Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice

Zoe A. Klein, Hideyuki Takahashi, Mengxiao Ma, Massimiliano Stagi, Melissa Zhou, TuKiet T. Lam, Stephen M. Strittmatter

Neuron. Author manuscript; available in PMC 2018 Jul 19.

Published in final edited form as: Neuron. 2017 Jul 19; 95(2): 281–296.e6. doi: 10.1016/j.neuron.2017.06.026

PMCID:: PMC5558861

Abstract Article PDF–2.3M

Select item 40940774.

Regulated Intramembrane Proteolysis of the Frontotemporal Lobar Degeneration Risk Factor, TMEM106B, by Signal Peptide Peptidase-like 2a (SPPL2a)

Owen A. Brady, Xiaolai Zhou, Fenghua Hu

J Biol Chem. 2014 Jul 11; 289(28): 19670–19680. Published online 2014 May 28. doi: 10.1074/jbc.M113.515700

PMCID:: PMC4094077

Abstract Article PDF–2.2M

Select item 35541975.

The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function

Owen A. Brady, Yanqiu Zheng, Kira Murphy, Marshall Huang, Fenghua Hu

Hum Mol Genet. 2013 Feb 15; 22(4): 685–695. Published online 2012 Nov 6. doi: 10.1093/hmg/dds475

PMCID:: PMC3554197

Abstract Article PDF–909K

Select item 34468266.

TMEM106B, the Risk Gene for Frontotemporal Dementia, Is Regulated by the microRNA-132/212 Cluster and Affects Progranulin Pathways

Alice S. Chen-Plotkin, Travis L. Unger, Michael D. Gallagher, Emily Bill, Linda K. Kwong, Laura Volpicelli-Daley, Johanna I. Busch, Sebastian Akle, Murray Grossman, Vivianna Van Deerlin, John Q. Trojanowski, Virginia M.-Y. Lee

J Neurosci. 2012 Aug 15; 32(33): 11213–11227. doi: 10.1523/JNEUROSCI.0521-12.2012

PMCID:: PMC3446826

Abstract Article PDF–3.7M

Select item 28285257.

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Vivianna M. Van Deerlin, Patrick M. A. Sleiman, Maria Martinez-Lage, Alice Chen-Plotkin, Li-San Wang, Neill R Graff-Radford, Dennis W. Dickson, Rosa Rademakers, Bradley F. Boeve, Murray Grossman, Steven E. Arnold, David M.A. Mann, Stuart M. Pickering-Brown, Harro Seelaar, Peter Heutink, John C. van Swieten, Jill R. Murrell, Bernardino Ghetti, Salvatore Spina, Jordan Grafman, John Hodges, Maria Grazia Spillantini, Sid' Gilman, Andrew P. Lieberman, Jeffrey A. Kaye, Randall L. Woltjer, Eileen H Bigio, Marsel Mesulam, Safa al-Sarraj, Claire Troakes, Roger N. Rosenberg, Charles L. White, III, Isidro Ferrer, Albert Lladó, Manuela Neumann, Hans A. Kretzschmar, Christine Marie Hulette, Kathleen A. Welsh-Bohmer, Bruce L Miller, Ainhoa Alzualde, Adolfo Lopez de Munain, Ann C. McKee, Marla Gearing, Allan I. Levey, James J. Lah, John Hardy, Jonathan D. Rohrer, Tammaryn Lashley, Ian R.A. Mackenzie, Howard H. Feldman, Ronald L. Hamilton, Steven T. Dekosky, Julie van der Zee, Samir Kumar-Singh, Christine Van Broeckhoven, Richard Mayeux, Jean Paul G. Vonsattel, Juan C. Troncoso, Jillian J Kril, John B.J. Kwok, Glenda M. Halliday, Thomas D. Bird, Paul G. Ince, Pamela J. Shaw, Nigel J. Cairns, John C. Morris, Catriona Ann McLean, Charles DeCarli, William G. Ellis, Stefanie H. Freeman, Matthew P. Frosch, John H. Growdon, Daniel P. Perl, Mary Sano, David A. Bennett, Julie A. Schneider, Thomas G. Beach, Eric M. Reiman, Bryan K. Woodruff, Jeffrey Cummings, Harry V. Vinters, Carol A. Miller, Helena C. Chui, Irina Alafuzoff, Päivi Hartikainen, Danielle Seilhean, Douglas Galasko, Eliezer Masliah, Carl W. Cotman, M. Teresa Tuñón, M. Cristina Caballero Martínez, David G. Munoz, Steven L. Carroll, Daniel Marson, Peter F. Riederer, Nenad Bogdanovic, Gerard D. Schellenberg, Hakon Hakonarson, John Q. Trojanowski, Virginia M.-Y. Lee

Nat Genet. Author manuscript; available in PMC 2010 Sep 1.

Published in final edited form as: Nat Genet. 2010 Mar; 42(3): 234–239. Published online 2010 Feb 14. doi: 10.1038/ng.536

PMCID:: PMC2828525

Abstract Article PDF–613K

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