A novel tau mutation, p.K317N, causes globular glial tauopathy

Acta Neuropathologica

Volumn 130, Issue 2, 2015, Pages 199-214

  Tacik, Pawel ^a   DeTure, Michael ^b   Lin, Wen Lang ^b   Sanchez Contreras, Monica ^b   Wojtas, Aleksandra ^b   Hinkle, Kelly M ^b   Fujioka, Shinsuke ^a,c   Baker, Matthew C ^b   Walton, Ronald L ^b   Carlomagno, Yari ^b   Brown, Patricia H ^b   Strongosky, Audrey J ^a   Kouri, Naomi ^b   Murray, Melissa E ^b   Petrucelli, Leonard ^b   Josephs, Keith A ^a   Rademakers, Rosa ^b   Ross, Owen A ^b   Wszolek, Zbigniew K ^a   Dickson, Dennis W ^b  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c FUKUOKA UNIVERSITY   (Japan)

Author keywords

FTDP 17; Globular glial tauopathy (GGT); Hereditary tauopathies; Tau biochemistry; Tau gene (MAPT)

Indexed keywords

RECOMBINANT PROTEIN; TAU PROTEIN; MAPT PROTEIN, HUMAN; TUBULIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; APRAXIA; ARTICLE; AUTOPSY; CLINICAL ARTICLE; DEMENTIA; DISEASE DURATION; ELECTRON MICROSCOPY; FAMILY HISTORY; FASCICULATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GLOBULAR GLIAL TAUOPATHY; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOELECTRON MICROSCOPY; MALE; MICROTUBULE ASSEMBLY; MIDDLE AGED; PRIORITY JOURNAL; TAUOPATHY; VERY ELDERLY; BRAIN; CASE REPORT; GENETIC PREDISPOSITION; GENETICS; ISOLATION AND PURIFICATION; METABOLISM; MICROTUBULE; MUTATION; PATHOLOGY; PEDIGREE; POLYMERIZATION; SCANNING ELECTROCHEMICAL MICROSCOPY;

AGED; AGED, 80 AND OVER; BRAIN; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MICROSCOPY, ELECTROCHEMICAL, SCANNING; MICROTUBULES; MIDDLE AGED; MUTATION; PEDIGREE; POLYMERIZATION; RECOMBINANT PROTEINS; TAU PROTEINS; TAUOPATHIES; TUBULIN;

EID: 84937818139     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-015-1425-0     Document Type: Article

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