PMID- 11395757 OWN - NLM STAT- MEDLINE DCOM- 20010719 LR - 20091119 IS - 0028-0836 (Print) IS - 0028-0836 (Linking) VI - 411 IP - 6838 DP - 2001 Jun 7 TI - Alzheimer's disease. Molecular consequences of presenilin-1 mutation. PG - 654-6 AB - Alzheimer's disease is characterized by accumulation in the brain of a family of insoluble amyloid peptides (Abeta peptides), which are produced as a result of the normal processing of beta-amyloid precursor protein (beta-APP). Russo et al. claim that a truncated Abeta peptide that lacks the first ten amino acids accumulates in the brains of patients carrying a mutant form of pre-senilin 1 (PS1), a protein that is involved in cleavage of beta-APP. However, we have found that this same species is also overrepresented in Alzheimer's patients with mutations in beta-APP itself. Our findings do not support the conclusion of Russo et al. that pathogenic PS1 mutations may control cleavage of beta-APP by beta-secretase. FAU - Gandy, S AU - Gandy S AD - Sir James McCusker Alzheimer Research Unit, University of Western Australia, Perth, Australia and Department of Psychiatry, New York University School of Medicine, New York 10962, USA. samgandy@earthlink.net FAU - Naslund, J AU - Naslund J FAU - Nordstedt, C AU - Nordstedt C LA - eng PT - Comment PT - Journal Article PL - England TA - Nature JT - Nature JID - 0410462 RN - 0 (Amyloid) RN - 0 (Amyloid beta-Protein Precursor) RN - 0 (Membrane Proteins) RN - 0 (PSEN1 protein, human) RN - 0 (Presenilin-1) RN - EC 3.4.- (Amyloid Precursor Protein Secretases) RN - EC 3.4.- (Endopeptidases) RN - EC 3.4.23.- (Aspartic Acid Endopeptidases) RN - EC 3.4.23.46 (BACE1 protein, human) SB - IM CON - Nature. 2000 Jun 1;405(6786):531-2. PMID: 10850703 MH - Aged MH - Alzheimer Disease/*genetics MH - Amyloid/metabolism MH - Amyloid Precursor Protein Secretases MH - Amyloid beta-Protein Precursor/metabolism MH - Aspartic Acid Endopeptidases MH - Brain/metabolism MH - Endopeptidases/metabolism MH - Humans MH - Membrane Proteins/*genetics/metabolism MH - *Mutation MH - Presenilin-1 EDAT- 2001/06/08 10:00 MHDA- 2001/07/20 10:01 CRDT- 2001/06/08 10:00 PHST- 2001/06/08 10:00 [pubmed] PHST- 2001/07/20 10:01 [medline] PHST- 2001/06/08 10:00 [entrez] AID - 35079682 [pii] AID - 10.1038/35079682 [doi] PST - ppublish SO - Nature. 2001 Jun 7;411(6838):654-6. doi: 10.1038/35079682.