331209 RESULTS
RESEARCH MODELS Modification Details This animal is a cross between a PSEN1 knock-in line and an APP over-expressing line. The PS1 knock-in line was generated by introducing two point mutations in the wild-type mouse PSEN1, corresponding to the mutations M233T and L235P.
PAPER Bezprozvanny IB
CONFERENCE COVERAGE 2013-11-26 Conference Coverage Clinical trials, particularly for Alzheimer’s disease, often struggle to find participants fast enough and retain them until the trial is over. As more drugs move into Phase 3, this is increasingly seen as a major bottleneck in the mov
CONFERENCE COVERAGE 2013-11-26 Conference Coverage Researchers are taking aim at amyotrophic lateral sclerosis with an antisense oligonucleotide targeted toward microRNA (miRNA), those nucleic acid snippets that each regulate hundreds of mRNAs. A single anti-miRNA therapeutic could tun
RESEARCH MODELS Summary This widely-used and extensively characterized mouse model of AD was developed by researchers at Novartis and the University of Basel. These mice have a 7-fold overexpression of mutant human APP bearing the pathgenic Swedish mutation. The original
MUTATIONS MAPT 44087751 GRCh37/hg19 G A Exon 10 Point, Missense Coding Unknown; predicted benign and well-tolerated in silico. Not applicable. V300I Frontotemporal Dementia: BenignNone This rare variant was found in a genetic screen of 282 control samples from the
University of Southern CaliforniaLos Angeles, United States
COMMENT In this elegant study, the Ranum group provides novel insight into the presence of antisense and sense transcripts of the C9ORF72 repeat expansion, and RAN translation thereof. Through the use of antibodies toward the repeat motifs of RAN proteins, as wel
Mayo Clinic JacksonvilleJacksonville, United States
Universitparis, France
West Virginia UniversityUnited States
MUTATIONS MAPT 44067400 GRCh37/hg19 rs10445337 T C Exon 6 Point, Missense Coding Unknown. Not applicable. S447P Frontotemporal Dementia: BenignNone This variant has been reported in controls and is thought to be benign (Poorkaj et al., 1998). The polymorphism resid
MUTATIONS MAPT 44067382 GRCh37/hg19 rs2258689 C T Exon 6 Point, Missense Coding Unknown. Not applicable. Y441H Frontotemporal Dementia: BenignNone This variant has been reported in healthy controls and is thought to be benign (Poorkaj et al., 1998). The polymorphis
PAPER Labbé C, Rayaprolu S, Soto-Ortolaza A, Ogaki K, Uitti RJ, Wszolek ZK, Ross OA
PAPER Bezard E, Fernagut PO
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