PSEN1 A434C

MUTATIONS PSEN1 73219185_73219186 GRCh38/hg38 GC TG 73685893_73685894 GRCh37/hg19 GC TG Exon 12 Point, Double Coding Increased Aβ42 and decreased Aβ40 production in vitro, resulting in an increased Aβ42/Aβ40 ratio. Numerous diffuse plaques and neuritic plaques with

PAPER Ries V, Oertel WH, Höglinger GU

Mitochondrial dysfunction as a therapeutic target in progressive supranuclear palsy.

J Mol Neurosci. 2011 Nov 1;45(3):684-9. Epub 2011 Jul 27 PubMed.

PAPER Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I

Characterization of the Asian myopathy patients with VCP mutations.

Eur J Neurol. 2012 Mar;19(3):501-9. Epub 2011 Oct 31 PubMed.

PAPER Marks WJ, Bartus RT, Siffert J, Davis CS, Lozano A, Boulis N, Vitek J, Stacy M, Turner D, Verhagen L, Bakay R, Watts R, Guthrie B, Jankovic J, Simpson R, Tagliati M, Alterman R, Stern M, Baltuch G, Starr PA, Larson PS, Ostrem JL, Nutt J, Kieburtz K, Kordower JH, Olanow CW

Gene delivery of AAV2-neurturin for Parkinson's disease: a double-blind, randomised, controlled trial.

Lancet Neurol. 2010 Dec;9(12):1164-72. PubMed.

PAPER Zinman L, Liu HN, Sato C, Wakutani Y, Marvelle AF, Moreno D, Morrison KE, Mohlke KL, Bilbao J, Robertson J, Rogaeva E

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion.

Neurology. 2009 Mar 31;72(13):1153-9. PubMed.

PAPER Borroni B, Bonvicini C, Alberici A, Buratti E, Agosti C, Archetti S, Papetti A, Stuani C, Di Luca M, Gennarelli M, Padovani A

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

Hum Mutat. 2009 Nov;30(11):E974-83. PubMed.

PAPER Roberts BE, Duennwald ML, Wang H, Chung C, Lopreiato NP, Sweeny EA, Knight MN, Shorter J

A synergistic small-molecule combination directly eradicates diverse prion strain structures.

Nat Chem Biol. 2009 Dec;5(12):936-46. PubMed.

PAPER Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, Onodera O, Aoki M, Shimozawa N, Murayama S, Itoyama Y, Suzuki Y, Sobue G, Nishizawa M, Goto J, Tsuji S

Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.

Arch Neurol. 2008 Oct;65(10):1326-32. PubMed.

PAPER Kimonis VE, Fulchiero E, Vesa J, Watts G

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder.

Biochim Biophys Acta. 2008 Dec;1782(12):744-8. Epub 2008 Sep 18 PubMed.

PAPER Arenkiel BR, Peca J, Davison IG, Feliciano C, Deisseroth K, Augustine GJ, Ehlers MD, Feng G

In vivo light-induced activation of neural circuitry in transgenic mice expressing channelrhodopsin-2.

Neuron. 2007 Apr 19;54(2):205-18. PubMed.

Tau phos Ser721

ANTIBODY polyclonal manufacturer Cat#<br />sc-16944 immunogen = short aa seq. containing phosphorylated Ser721 of human Tau liquid, PBS, gelatin, azide, affinity purified; blocking peptide sc-16944P Ser721 phosphorylated tau IgG Tau Santa Cruz Goat Human Mou

PAPER Feldman H, Gauthier S, Hecker J, Vellas B, Hux M, Xu Y, Schwam EM, Shah S, Mastey V, Donepezil MSAD Study Investigators Group

Economic evaluation of donepezil in moderate to severe Alzheimer disease.

Neurology. 2004 Aug 24;63(4):644-50. PubMed.

PAPER Mattsson N, Zetterberg H, Hansson O, Andreasen N, Parnetti L, Jonsson M, Herukka SK, van der Flier WM, Blankenstein MA, Ewers M, Rich K, Kaiser E, Verbeek M, Tsolaki M, Mulugeta E, Rosén E, Aarsland D, Visser PJ, Schröder J, Marcusson J, de Leon M, Hampel H, Scheltens P, Pirttilä T, Wallin A, Jönhagen ME, Minthon L, Winblad B, Blennow K

CSF biomarkers and incipient Alzheimer disease in patients with mild cognitive impairment.

JAMA. 2009 Jul 22;302(4):385-93. PubMed.

Bridging integrator 1 (BIN1)

ALZPEDIA Bridging integrator 1 (BIN1) is a widely expressed adaptor protein that is part of the Bin1/amphiphysin/RVS167 (BAR) family. BIN1 functions in clathrin-mediated endocytosis and endocytic recycling, as does the AD risk gene PICALM. Whereas brain-specific i

PSEN1 Knock-out

RESEARCH MODELS Summary These mice are deficient in PSEN1. This model is perinatal lethal in homozygouse animals which die shortly after birth, presumably from breathing difficulties due to ribcage deformity (Shen et al., 1997). Gross skeletal malformations and central n