Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation.
作者： Rie Saito , Hiroaki Nozaki , Taisuke Kato , Yasuko Toyoshima , Hajime Tanaka
DOI: 10.1093/JNEN/NLY115
关键词: Retinal 、 Microangiopathy 、 White matter 、 Leukodystrophy 、 Pathology 、 Medicine 、 Lesion 、 Calcification 、 Retinopathy 、 Frameshift mutation
摘要: … in the TREX1 gene. Under physiological conditions, the TREX1 protein is localized in the cellular cytoplasm and … The localization and kinetics of TREX1 are important for maintaining the …
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M. Gilbert Grand, Jeffrey Kaine, Keith Fulling, John Atkinson, S. Bruce Dowton, Martha Farber, Jeffrey Craver, Karen Rice, Cerebroretinal Vasculopathy Ophthalmology. ,vol. 95, pp. 649- 659 ,(1988) , 10.1016/S0161-6420(88)33131-3
Melanie D. Klok, Hannah S. Bakels, Nienke L. Postma, Rosalina M. L. Spaendonk, Marjo S. Knaap, Marianna Bugiani, Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome. Annals of clinical and translational neurology. ,vol. 2, pp. 774- 779 ,(2015) , 10.1002/ACN3.213
J. Jen, A. H. Cohen, Q. Yue, J. T. Stout, H. V. Vinters, S. Nelson, R. W. Baloh, Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) Neurology. ,vol. 49, pp. 1322- 1330 ,(1997) , 10.1212/WNL.49.5.1322
Dipanjan Chowdhury, Paul J. Beresford, Pengcheng Zhu, Dong Zhang, Jung-Suk Sung, Bruce Demple, Fred W. Perrino, Judy Lieberman, The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death. Molecular Cell. ,vol. 23, pp. 133- 142 ,(2006) , 10.1016/J.MOLCEL.2006.06.005
Barbara Frigeni, Tiziana Stellato, Markus Tolnay, David T. Winkler, Paolo Remida, Giuseppe Isimbaldi, Carlo Ferrarese, Jacopo C. DiFrancesco, Francesca Novara, Orsetta Zuffardi, Antonella Forlino, Roberta Gioia, Federica Cossu, Martino Bolognesi, Simona Andreoni, Enrico Saracchi, TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy Neurological Sciences. ,vol. 36, pp. 323- 330 ,(2015) , 10.1007/S10072-014-1944-9
Anna Richards, Arn MJM Van Den Maagdenberg, Joanna C Jen, David Kavanagh, Paula Bertram, Dirk Spitzer, M Kathryn Liszewski, Maria-Louise Barilla-LaBarca, Gisela M Terwindt, Yumi Kasai, Mike McLellan, Mark Gilbert Grand, Kaate RJ Vanmolkot, Boukje De Vries, Jijun Wan, Michael J Kane, Hafsa Mamsa, Ruth Schäfer, Anine H Stam, Joost Haan, Paulus TVM De Jong, Caroline W Storimans, Mary J Van Schooneveld, Jendo A Oosterhuis, Andreas Gschwendter, Martin Dichgans, Katya E Kotschet, Suzanne Hodgkinson, Todd A Hardy, Martin B Delatycki, Rula A Hajj-Ali, Parul H Kothari, Stanley F Nelson, Rune R Frants, Robert W Baloh, Michel D Ferrari, John P Atkinson, None, C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy Nature Genetics. ,vol. 39, pp. 1068- 1070 ,(2007) , 10.1038/NG2082
Elisabeth Schuh, Birgit Ertl-Wagner, Peter Lohse, Waltraud Wolf, Johannes F. Mann, Min Ae Lee-Kirsch, Reinhard Hohlfeld, Tania Kümpfel, Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. Neuroimmunology and Neuroinflammation. ,vol. 2, ,(2015) , 10.1212/NXI.0000000000000055
Denis Martinvalet, Pengcheng Zhu, Judy Lieberman, Granzyme A Induces Caspase-Independent Mitochondrial Damage, a Required First Step for Apoptosis Immunity. ,vol. 22, pp. 355- 370 ,(2005) , 10.1016/J.IMMUNI.2005.02.004
Grant R. Kolar, Parul H. Kothari, Negar Khanlou, Joanna C. Jen, Robert E. Schmidt, Harry V. Vinters, Neuropathology and genetics of cerebroretinal vasculopathies. Brain Pathology. ,vol. 24, pp. 510- 518 ,(2014) , 10.1111/BPA.12178
Ivana Vodopivec, Derek H. Oakley, Cory A. Perugino, Nagagopal Venna, E. Tessa Hedley-Whyte, John H. Stone, A 44-year-old man with eye, kidney, and brain dysfunction. Annals of Neurology. ,vol. 79, pp. 507- 519 ,(2016) , 10.1002/ANA.24583