MUTATIONS MAPT 44087767 GRCh37/hg19 G T g.123802G> T g.120981G> T Exon 10 Point, Missense Coding Affects exon 10 splicing, causing an overproduction of 4-repeat (4R) tau isoforms. Extensive neuronal loss in the medial temporal cortex, hippocampus, and amygdal
PAPER Xi Z, Zinman L, Moreno D, Schymick J, Liang Y, Sato C, Zheng Y, Ghani M, Dib S, Keith J, Robertson J, Rogaeva E
Am J Hum Genet. 2013 May 22; PubMed: 23731538
PAPER Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT
Nat Genet. 1997 Aug;16(4):407-9. PubMed: 9241283
PAPER Klesert TR, Otten AD, Bird TD, Tapscott SJ
Nat Genet. 1997 Aug;16(4):402-6. PubMed: 9241282
PAPER López Castel A, Nakamori M, Tomé S, Chitayat D, Gourdon G, Thornton CA, Pearson CE
Hum Mol Genet. 2011 Jan 1;20(1):1-15. PubMed: 21044947
PAPER Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST
Hum Mol Genet. 1992 Sep;1(6):397-400. PubMed: 1301913
MUTATIONS MAPT 44087767 GRCh37/hg19 rs63751165 G A 123802G> A 120981G> A Exon 10 Point, Missense Coding Stem-loop instability leading to alterations in the ratio of 3-repeat (3R) tau to 4-repeat (4R) tau. Reduced lysosomal degradation of tau. Numerous neurofi
PAPER Kobayashi K, Hayashi M, Kidani T, Nakano H, Miyazu K, Ujike H, Kuroda S, Koshino Y
Clin Neuropathol. 2002 Jul-Aug;21(4):191-3. PubMed: 12143928
MUTATIONS MAPT 44087768 GRCh37/hg19 rs63750568 T C g.123803T> C g.120982T> C Exon 10 Point, Silent Coding This silent mutation increases the splicing in of exon 10 and results in overproduction of tau isoforms containing four repeats (4R). Variable, but assoc
PAPER Spillantini MG, Goedert M
Brain. 2000 May;123 ( Pt 5):857-9. PubMed: 10775532
RESEARCH NEWS 2013-06-06 Research News Nucleotide repeats in the C9ORF72 gene are the most common cause of inherited amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Since their discovery, the hexanucleotides have presented a puzzle for scientists
PAPER Cooper JJ, Ovsiew F
J Geriatr Psychiatry Neurol. 2013 Sep;26(3):131-7. PubMed: 23733854
PAPER Nanou A, Higginbottom A, Valori CF, Wyles M, Ning K, Shaw P, Azzouz M
Mol Ther. 2013 Aug;21(8):1486-96. PubMed: 23732987
PAPER Ivankov DN, Bogatyreva NS, Hönigschmid P, Dislich B, Hogl S, Kuhn PH, Frishman D, Lichtenthaler SF
Nucleic Acids Res. 2013 Jul;41(Web Server issue):W459-64. PubMed: 23729472
PAPER Tamura H, Ishikawa Y, Shiosaka S
Rev Neurosci. 2013;24(4):365-74. PubMed: 23729556