NDLI: The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid β protein ending at the 42nd (or 43rd) residue

Content Provider	PubMed Central
Author	Tomita, Taisuke Maruyama, Kei Saido, Takaomi C. Kume, Hideaki Shinozaki, Kohki Tokuhiro, Shinya Capell, Anja Walter, Jochen Grünberg, Jürgen Haass, Christian Iwatsubo, Takeshi Obata, Kunihiko
Copyright Year	1997
Abstract	To gain insights into the significance of presenilins (PS) in the pathogenetic mechanisms of early-onset familial Alzheimer disease (FAD), we expressed cDNAs for wild-type PS2 and PS2 with the Volga German (N141I) mutation in cultured cells and then examined the metabolism of the transfected proteins and their effect on the C-terminal properties of secreted amyloid β protein (Aβ). PS2 was identified as a 50- to 55-kDa protein, which was cleaved to produce N-terminal fragments of 35–40 kDa and C-terminal fragments of 19–23 kDa. The Volga German (N141I) mutation did not cause any significant change in the metabolism of PS2. COS-1 cells doubly transfected with cDNAs for N141I mutant PS2 and human β-amyloid precursor protein (βAPP) or a C-terminal fragment thereof, as well as mouse Neuro2a neuroblastoma cells stably transfected with N141I mutant PS2 alone, secreted 1.5- to 10-fold more Aβ ending at residues 42 (or 43) [Aβ42(43)] compared with those expressing the wild-type PS2. These results strongly suggest that the PS2 mutation (N141I) linked to FAD alters the metabolism of Aβ/βAPP to foster the production of the form of Aβ that most readily deposits in amyloid plaques. Thus, mutant PS2 may lead to AD by altering the metabolism of Aβ/βAPP.
Starting Page	2025
File Format	PDF
ISSN	10916490
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	5
Volume Number	94
Language	English
Publisher	The National Academy of Sciences of the USA
Publisher Date	1997-03-04
Access Restriction	Open
Rights Holder	The National Academy of Sciences of the USA
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid β protein ending at the 42nd (or 43rd) residue

Increased apoptosis arising from increased expression of the Alzheimer’s disease-associated presenilin-2 mutation (N141I (1997)

149 The Presenilin 1 and 2 mutations linked to familial Alzheimer's Disease increase the extracellular concentration of amyloid 0 protein (Aβ) ending at Aβ42(43)

Increased apoptosis arising from increased expression of the Alzheimer’s disease-associated presenilin-2 mutation (N141I (1997)

Disruption of amyloid precursor protein ubiquitination selectively increases amyloid β (Aβ) 40 levels via presenilin 2-mediated cleavage

Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.

Molecular Dissection of Domains in Mutant Presenilin 2 That Mediate Overproduction of Amyloidogenic Forms of Amyloid β Peptides INABILITY OF TRUNCATED FORMS OF PS2 WITH FAMILIAL ALZHEIMER’S DISEASE MUTATION TO INCREASE SECRETION OF Aβ42

Structural dynamics of the ΔE22 (Osaka) familial Alzheimer’s disease-linked amyloid β-protein

And four equals one: presenilin takes the gamma-secretase role by itself.

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid β protein ending at the 42nd (or 43rd) residue

Similar Documents

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid β protein ending at the 42nd (or 43rd) residue

Increased apoptosis arising from increased expression of the Alzheimer’s disease-associated presenilin-2 mutation (N141I (1997)

149 The Presenilin 1 and 2 mutations linked to familial Alzheimer's Disease increase the extracellular concentration of amyloid 0 protein (Aβ) ending at Aβ42(43)

Increased apoptosis arising from increased expression of the Alzheimer’s disease-associated presenilin-2 mutation (N141I (1997)

Disruption of amyloid precursor protein ubiquitination selectively increases amyloid β (Aβ) 40 levels via presenilin 2-mediated cleavage

Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.

Molecular Dissection of Domains in Mutant Presenilin 2 That Mediate Overproduction of Amyloidogenic Forms of Amyloid β Peptides INABILITY OF TRUNCATED FORMS OF PS2 WITH FAMILIAL ALZHEIMER’S DISEASE MUTATION TO INCREASE SECRETION OF Aβ42

Structural dynamics of the ΔE22 (Osaka) familial Alzheimer’s disease-linked amyloid β-protein

And four equals one: presenilin takes the gamma-secretase role by itself.

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid β protein ending at the 42nd (or 43rd) residue