PSEN1 I168del (TTAdel)

MUTATIONS PSEN1 73653580_73653582 GRCh37/hg19 TTA--- Exon 6 Deletion Coding Decreased Aβ37/Aβ42, increased Aβ42/Aβ40, and increased Aβ43 in cultured cells (nucleotide change unspecified). Unknown. I168del (TTAdel) Alzheimer's Disease: PathogenicAlzheimer'

PSEN1 A434T

MUTATIONS PSEN1 73685893 GRCh37/hg19 G A Exon 12 Point, Missense Coding Unknown; predicted damaging in silico. Unknown. A434T Alzheimer's Disease: PathogenicAlzheimer's Disease, Parkinsonism This mutation was detected in a Chinese family with a history of

Mike Novak

shingle springs , United States

Firas Zekri

Sfax, Tunisia

Paula Wear

Everett

Carol Berry

Claire Sarell

UCL

Donna Camacho

Savannah

PAPER Garbossa G, Gálvez G, Castro ME, Nesse A

Oral aluminum administration to rats wih normal renal function. 1. Impairment of erythropoiesis.

Hum Exp Toxicol. 1998 Jun;17(6):312-7. PubMed: 9688354

PAPER Drüeke T

Hyporesponsiveness to recombinant human erythropoietin.

Nephrol Dial Transplant. 2001;16 Suppl 7:25-8. PubMed: 11590253

PAPER Tamburro AM, Pepe A, Bochicchio B, Quaglino D, Ronchetti IP

Supramolecular amyloid-like assembly of the polypeptide sequence coded by exon 30 of human tropoelastin.

J Biol Chem. 2005 Jan 28;280(4):2682-90. Epub 2004 Nov 18 PubMed: 15550396

Xiaojie Tian

Xuanwu hospital, Capital Medical University
Beijing, China

Leonel Takada

Hospital das Clinicas, University of Sao Paulo Medical School
Brazil

Shelley Allen-Birt

University of Bristol
Bristol, United Kingdom

PAPER Laiterä T, Sarajärvi T, Haapasalo A, Puli L, Kauppinen T, Mäkinen P, Rauramaa T, Tanila H, Jääskeläinen JE, Alafuzoff I, Soininen H, Leinonen V, Hiltunen M

Increased γ-secretase activity in idiopathic normal pressure hydrocephalus patients with β-amyloid pathology.

PLoS One. 2014;9(4):e93717. Epub 2014 Apr 3 PubMed: 24699723