Results 51 to 60 of about 38,121 (213)

PSEN2 Mutations May Mimic Frontotemporal Dementia: Two New Case Reports and a Review

Biomedicines
Background: Monogenic Alzheimer’s disease (AD) has severe health and socioeconomic repercussions. Its rarest cause is presenilin 2 (PSEN2) gene mutations.
Anxo Manuel Minguillón Pereiro, Beatriz Quintáns Castro, Alberto Ouro Villasante, José Manuel Aldrey Vázquez, Julia Cortés Hernández, Marta Aramburu-Núñez, Manuel Arias Gómez, Isabel Jiménez Martín, Tomás Sobrino, Juan Manuel Pías-Peleteiro   +9 more
doaj   +1 more source

Γ-secretase components as predictors of breast cancer outcome.

PLoS ONE, 2013
γ-secretase is a large ubiquitously expressed protease complex composed of four core subunits: presenilin, Aph1, PEN-2, and nicastrin. The function of γ-secretase in the cells is to proteolytically cleave various proteins within their transmembrane ...
Hanna M Peltonen, Annakaisa Haapasalo, Mikko Hiltunen, Vesa Kataja, Veli-Matti Kosma, Arto Mannermaa   +5 more
doaj   +1 more source

A γ-secretase inhibitor, but not a γ-secretase modulator, induced defects in BDNF axonal trafficking and signaling: evidence for a role for APP. [PDF]

, 2015
Clues to Alzheimer disease (AD) pathogenesis come from a variety of different sources including studies of clinical and neuropathological features, biomarkers, genomics and animal and cellular models. An important role for amyloid precursor protein (APP)
Cheng, Soan, Goldstein, Lawrence SB, Mobley, William C, Natera-Naranjo, Orlangie, Nguyen, Phuong, Pearn, Matthew L, Reyna, Sol M, Tanzi, Rudolph E, Wagner, Steven L, Weissmiller, April M, Wu, Chengbiao, Zhao, Xiaobei   +11 more
core   +2 more sources

PSEN2 (presenilin 2 (Alzheimer disease 4)) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on PSEN2 (presenilin 2 (Alzheimer disease 4)), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire   +2 more sources

Ibuprofen Rescues Abnormalities in Periodontal Tissues in Conditional Presenilin 1 and Presenilin 2 Double Knockout Mice [PDF]

International Journal of Molecular Sciences, 2013
We used forebrain-specific conditional presenilin 1 (PS1) and presenilin 2 (PS2) double knockout mice (dKO mice) that exhibit symptoms of neurodegenerative diseases, especially Alzheimer’s disease, to investigate whether ibuprofen can rescue brain and periodontal tissue abnormalities by attenuating the inflammatory response.
Su, Jiansheng, Gu, Jiamei, Dong, Zhuo, Mei, Bing   +3 more
openaire   +2 more sources

The role of the Amyloid Precursor Protein mutations and PERK-dependent signaling pathways in the pathogenesis of Alzheimer’s disease [PDF]

, 2016
Alzheimer’s disease (AD) is a highly complex, progressive, age-related neurodegenerative human disease entity. The genetic basis of AD is strictly connected with occurrence of mutations in Amyloid Precursor (APP) gene on chromosome 21.
Diehl, J. Alan, Lewko, Dawid, Majsterek, Ireneusz, Nowak, Alicja, Pytel, Dariusz, Rozpędek, Wioletta   +5 more
core   +2 more sources

Small Extracellular Vesicles from Neural Cells: Physiological and Pathological Roles, and Potential in Neurodegenerative Therapy

Advanced Healthcare Materials, EarlyView.
Neural cell–derived small extracellular vesicles (sEVs) are emerging as pivotal mediators in neurodegenerative diseases, exerting both pathogenic and therapeutic functions. This review synthesizes current evidence on how sEVs from distinct neural cell types regulate neurodegeneration, neuroprotection, biomarker discovery, and targeted drug delivery ...
Muhammad Waqas Salim, Wei Zhang, Lyndsey Collins‐Praino, Yuling Wang, Andrew Care   +4 more
wiley   +1 more source

Thapsigargin affects presenilin-2 but not presenilin-1 regulation in SK-N-BE cells

Experimental Biology and Medicine, 2013
Presenilin-1 (PS1) and presenilin-2 (PS2) are transmembrane proteins widely expressed in the central nervous system, which function as the catalytic subunits of γ-secretase, the enzyme that releases amyloid-β protein (Aβ) from ectodomain cleaved amyloid precursor protein (APP) by intramembrane proteolysis.
Roberto Rivabene, Sergio Visentin, Paola Piscopo, Chiara De Nuccio, Alessio Crestini, Francesca Svetoni, ROSA, PAOLO, Annamaria Confaloni   +7 more
openaire   +2 more sources

Presenilin 2 Modulates Endoplasmic Reticulum-Mitochondria Coupling by Tuning the Antagonistic Effect of Mitofusin 2

Cell Reports, 2016
Communication between organelles plays key roles in cell biology. In particular, physical and functional coupling of the endoplasmic reticulum (ER) and mitochondria is crucial for regulation of various physiological and pathophysiological processes. Here,
Riccardo Filadi, Elisa Greotti, Gabriele Turacchio, Alberto Luini, Tullio Pozzan, Paola Pizzo   +5 more
doaj   +1 more source

Substrate–Enzyme Interactions in Intramembrane Proteolysis: γ-Secretase as the Prototype

Frontiers in Molecular Neuroscience, 2020
Intramembrane-cleaving proteases (I-CLiPs) catalyze the hydrolysis of peptide bonds within the transmembrane regions of membrane protein substrates, releasing bioactive fragments that play roles in many physiological and pathological processes.
Xinyue Liu, Jing Zhao, Yingkai Zhang, Iban Ubarretxena-Belandia, Iban Ubarretxena-Belandia, Scott Forth, Scott Forth, Raquel L. Lieberman, Chunyu Wang, Chunyu Wang, Chunyu Wang   +10 more
doaj   +1 more source