Results 91 to 100 of about 35,583 (221)

A novel presenilin 1 mutation (L174M) in a large Cuban family with early onset Alzheimer disease. [PDF]

, 2002
We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age.
Bertoli Avella, A.M. (Aida), Borrajero Martinez, I., Duijn, C.M. (Cornelia) van, Gomez Viera, N., Heredero-Baute, L., Heutink, P. (Peter), Joosse, M. (Marijke), Llibre Rodriguez, J.J., Marcheco Teruel, B., Severijnen, E.A.W.F.M. (Lies-Anne)   +9 more
core   +2 more sources

Alzheimer's presenilin 1 causes chromosome missegregation and aneuploidy [PDF]

Neurobiology of Aging, 2008
Mutations in the presenilin 1 gene cause most early onset familial Alzheimer's disease (FAD). Here, we report that a defect in the cell cycle - improper chromosome segregation - can be caused by abnormal presenilin function and therefore may contribute to AD pathogenesis. Specifically we find that either over-expression or FAD mutation in presenilin 1 (
Boeras DI, Granic A, Padmanabhan J, Crespo NC, Rojiani AM, Potter H   +5 more
openaire   +3 more sources

GPND‐AI NULISA: A 15‐Protein AI classifier for diagnosis and co‐pathology profiling across neurodegenerative diseases

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract INTRODUCTION Accurate clinical diagnosis of neurodegenerative diseases remains challenging, particularly when individuals have mixed pathologies. We implemented the generalizable protein‐based neurodegenerative disease artificial intelligence (GPND‐AI) classifier using the NUcleic acid‐Linked Immuno‐Sandwich Assay (NULISA) central nervous ...
Ying Xu, Marisa N Denkinger, Menghan Liu, Katherine Gong, Yike Chen, Daniel Western, Jigyasha Timsina, Yuchen Cheng, Yunchang Xie, Rui Mu, John Budde, Thomas G. Beach, Geidy E. Serrano, Eric M. Reiman, Alpana Singh, Isabel Alfradique‐Dunham, Tammie L. S. Benzinger, Suzanne E. Schindler, John C. Morris, David M. Holtzman, Joel S. Perlumtter, B Joy Snider, Meghan C. Campbell, Paul T. Kotzbauer, Nicholas J. Ashton, Carlos Cruchaga   +25 more
wiley   +1 more source

Bidirectional regulation of Aβ levels by Presenilin 1 [PDF]

Proceedings of the National Academy of Sciences, 2017
Significance Alzheimer’s disease is the most common neurodegenerative disorder, affecting more than 5 million people in the United States. Multiple lines of evidence suggest that the accumulation of toxic oligomers and aggregates of β-amyloid (Aβ) peptide are the primary causes of neurodegeneration.
Victor Bustos, Maria V. Pulina, Yildiz Kelahmetoglu, Subhash C. Sinha, Fred S. Gorelick, Marc Flajolet, Paul Greengard   +6 more
openaire   +2 more sources

Cloning of the Presenilin 2 cDNA and Its Distribution in Brain of the Primate,Microcebus murinus: Coexpression with βAPP and Tau Proteins

Neurobiology of Disease, 1998
A 1340-bp cDNA fragment encoding the lemurian presenilin 2 protein (PS2) was isolated from aMicrocebus murinusbrain cDNA library by PCR using oligonucleotide primers based on the nucleotide sequence of the human gene.
Alphonse Calenda, Nadine Mestre-Francés, Christian Czech, Laurent Pradier, Arlette Petter, Martine Perret, Noëlle Bons, Michel Bellis   +7 more
doaj   +1 more source

rTCT: Rodent Triangle Completion Task to Facilitate Reverse Translational Study of Path Integration

Hippocampus, Volume 36, Issue 3, May 2026.
ABSTRACT Path integration is navigation in the absence of environmental landmarks and is a primary cognitive mechanism underlying spatial memory. Path integration performance is primarily assessed in humans using the Triangle Completion Task (TCT). In humans, TCT has shown promise for the early diagnosis of Alzheimer's disease.
Stephen Duncan, Sulaiman Rehman, Vladislava Segen, Irene Choi, Sami Lawrence, Om Kalani, Lisette Gold, Lillian Goldman, Sophia Ramlo, Kylene Stickel, Dylan Layfield, Thomas Wolbers, Zoran Tiganj, Ehren L. Newman   +13 more
wiley   +1 more source

Functions of p120ctn isoforms in cell-cell adhesion and intracellular signaling [PDF]

, 2012
The functions of many organs depend on the generation of an epithelium. The transition from a set of loosely connected nonpolarized cells to organized sheets of closely associated polarized epithelial cells requires the assembly of specialized cell ...
Pieters, Tim, van Hengel, Jolanda, Van Roy, Frans   +2 more
core   +2 more sources

The γ-secretase complex: from structure to function

Frontiers in Cellular Neuroscience, 2014
One of the most critical pathological features of Alzheimer’s disease (AD) is the accumulation of β-amyloid (Aβ) peptides that form extracellular senile plaques in the brain. Aβ is derived from β-amyloid precursor protein through sequential cleavage by β-
Xian eZhang, Yanfang eLi, Huaxi eXu, Huaxi eXu, Yun-Wu eZhang   +4 more
doaj   +1 more source

Quality control of protein import into mammalian mitochondria

Protein Science, Volume 35, Issue 5, May 2026.
Abstract Mitochondrial function depends on the continuous import of hundreds of nuclear‐encoded proteins. Targeting and translocation of mitochondrial proteins is a multistep process that is inherently vulnerable to defects in cytosolic quality control systems as well as perturbations in mitochondrial protein import machinery and organelle function ...
Madeleine Goldstein, Laurie Lee‐Glover, Hilla Weidberg   +2 more
wiley   +1 more source

Successful object encoding induces increased directed connectivity in presymptomatic early-onset Alzheimer's disease [PDF]

, 2017
Background: Recent studies report increases in neural activity in brain regions critical to episodic memory at preclinical stages of Alzheimer’s disease (AD).
Alonso López, Joan Francesc, Duque, Jon, Hernández Valdivieso, Alher Mauricio, Lopera, Francisco, Mañanas Villanueva, Miguel Ángel, Ochoa Gómez, John Fredy, Tobón, Carlos   +6 more
core   +2 more sources