A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau Function

PLoS ONE

Volumn 8, Issue 9, 2013, Pages

  Iyer, Abhinaya ^a   LaPointe, Nichole E ^a   Zielke, Krzysztof ^b   Berdynski, Mariusz ^c   Guzman, Elmer ^a   Barczak, Anna ^d   Chodakowska Zebrowska, Małgorzata ^d   Barcikowska, Maria ^c,d   Feinstein, Stuart ^a   Zekanowski, Cezary ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Department of Psychiatry   (Poland)

^c MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^d CENTRAL CLINICAL HOSPITAL OF THE MINISTRY OF INTERIOR   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLYCINE; ISOPROTEIN; KINESIN; TAU PROTEIN;

ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; FAMILY ASSESSMENT; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE FUNCTION; GENE MAPPING; GENETIC IDENTIFICATION; HUMAN; IN VITRO STUDY; MAPT GENE; MICROTUBULE ASSEMBLY; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN AGGREGATION; PROTEIN FUNCTION; PROTEIN TRANSPORT; SPECIES COMPARISON; WILD TYPE;

AMINO ACID SEQUENCE; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; MICROTUBULES; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLAND; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; TAU PROTEINS;

EID: 84884681457     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0076409     Document Type: Article

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