Results 11 to 20 of about 21,794 (134)

Loosening ER-Mitochondria Coupling by the Expression of the Presenilin 2 Loop Domain. [PDF]

Cells, 2021
Presenilin 2 (PS2), one of the three proteins in which mutations are linked to familial Alzheimer’s disease (FAD), exerts different functions within the cell independently of being part of the γ-secretase complex, thus unrelated to toxic amyloid peptide formation.
Rossini M, García-Casas P, Filadi R, Pizzo P.   +3 more
europepmc   +6 more sources

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease. [PDF]

Ann Clin Transl Neurol, 2019
AbstractObjectiveAutosomal‐dominant familial Alzheimer disease (AD) is caused by by variants in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP). Previously, we reported a rare PSEN2 frameshift variant in an early‐onset AD case (PSEN2 p.K115Efs*11).
Braggin JE, Bucks SA, Course MM, Smith CL, Sopher B, Osnis L, Shuey KD, Domoto-Reilly K, Caso C, Kinoshita C, Scherpelz KP, Cross C, Grabowski T, Nik SHM, Newman M, Garden GA, Leverenz JB, Tsuang D, Latimer C, Gonzalez-Cuyar LF, Keene CD, Morrison RS, Rhoads K, Wijsman EM, Dorschner MO, Lardelli M, Young JE, Valdmanis PN, Bird TD, Jayadev S.   +29 more
europepmc   +5 more sources

Presenilin 2 overexpression is associated with apoptosis in Neuro2a cells. [PDF]

Transl Neurosci, 2016
Abstract Presenilin 1 (PS1) and PS2 are evolutionarily conserved transmembrane proteins of the aspartyl protease family. Initially, they were reported to be associated with the early onset of familial, early-onset Alzheimer’s disease. PS1 has been implicated in several crucial brain functions including developmental processes, synaptic ...
Kumar A, Sivanandam TM, Thakur MK.
europepmc   +4 more sources

Intracellular Calcium Dysregulation by the Alzheimer's Disease-Linked Protein Presenilin 2. [PDF]

Int J Mol Sci, 2020
Alzheimer’s disease (AD) is the most common form of dementia. Even though most AD cases are sporadic, a small percentage is familial due to autosomal dominant mutations in amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2) genes. AD mutations contribute to the generation of toxic amyloid β (Aβ) peptides and the formation of
Galla L, Redolfi N, Pozzan T, Pizzo P, Greotti E.   +4 more
europepmc   +4 more sources

Data on solubilization, identification, and thermal stability of human Presenilin-2. [PDF]

Data Brief, 2018
The data presented here are related to the research article entitled “Expression, purification, and preliminary characterization of human presenilin-2" [1].Human Presenilin-2 is the catalytic subunit of γ-secretase and a possible calcium leakage channel (Kimberly et al., 2000; Tu et al., 2006) [2], [3]. HisPS2 which was obtained by overexpression in E.
Yang G, Yu K, Kubicek J, Labahn J.
europepmc   +6 more sources

Presenilin 2 influences miR146 level and activity in microglia. [PDF]

J Neurochem, 2013
AbstractMicroglia, the resident innate immune cells of the CNS, are the primary defenders against microbes and critical to CNS remodeling. Dysregulation of microglial behavior can lead to unchecked pro‐inflammatory activity and subsequent neurodegeneration.
Jayadev S, Case A, Alajajian B, Eastman AJ, Möller T, Garden GA.   +5 more
europepmc   +4 more sources

Presenilin 2-Dependent Maintenance of Mitochondrial Oxidative Capacity and Morphology. [PDF]

Front Physiol, 2017
Mitochondrial dysfunction plays a pivotal role in the progression of Alzheimer's disease (AD), and yet the mechanisms underlying the impairment of mitochondrial function in AD remain elusive. Recent evidence suggested a role for Presenilins (PS1 or PS2) in mitochondrial function.
Contino S, Porporato PE, Bird M, Marinangeli C, Opsomer R, Sonveaux P, Bontemps F, Dewachter I, Octave JN, Bertrand L, Stanga S, Kienlen-Campard P.   +11 more
europepmc   +7 more sources

Adult hippocampal neurogenesis occurs in the absence of Presenilin 1 and Presenilin 2. [PDF]

Sci Rep, 2018
AbstractMutations in the presenilin genes (PS1 and PS2) are a major cause of familial-Alzheimer’s disease (FAD). Presenilins regulate neurogenesis in the developing brain, with loss of PS1 inducing aberrant premature differentiation of neural progenitor cells, and additional loss of PS2 exacerbating this effect.
Dhaliwal J, Kannangara TS, Vaculik M, Xue Y, Kumar KL, Maione A, Béïque JC, Shen J, Lagace DC.   +8 more
europepmc   +4 more sources

Structure and dynamics of γ-secretase with presenilin 2 compared to presenilin 1. [PDF]

RSC Adv, 2019
We constructed a model of presenilin-2 γ-secretase in the membrane and studied it by all-atom molecular dynamics simulations. The study provides the first structural-dynamic comparison of presenilin 1 and 2 relevant to Alzheimer's disease.
Dehury B, Tang N, Blundell TL, Kepp KP.
europepmc   +5 more sources

Presenilin 2 Interacts with Sorcin, a Modulator of the Ryanodine Receptor [PDF]

Journal of Biological Chemistry, 2000
Perturbed Ca(2+) homeostasis is a common molecular consequence of familial Alzheimer's disease-linked presenilin mutations. We report here the molecular interaction of the large hydrophilic loop region of presenilin 2 (PS2) with sorcin, a penta-EF-hand Ca(2+)-binding protein that serves as a modulator of the ryanodine receptor intracellular Ca(2 ...
E, Pack-Chung, M B, Meyers, W P, Pettingell, R D, Moir, A M, Brownawell, I, Cheng, R E, Tanzi, T W, Kim   +7 more
openaire   +2 more sources