Results 51 to 60 of about 22,628 (189)

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

A Pedigree With a Novel Presenilin 1 Mutation at a Residue That Is Not Conserved in Presenilin 2 [PDF]

Archives of Neurology, 1999
To disclose a novel mutation of the presenilin 1 (PS1) gene responsible for early-onset Alzheimer disease and to clarify genotype-phenotype correlation that should help to establish the function of this protein.The PS1 and presenilin 2 (PS2) genes carry missense mutations in families with Alzheimer disease.
M, Yasuda, K, Maeda, M, Hashimoto, H, Yamashita, Y, Ikejiri, T D, Bird, C, Tanaka, G D, Schellenberg   +7 more
openaire   +2 more sources

Presenilins and γ-Secretase in Membrane Proteostasis

Cells, 2019
The presenilin (PS) proteins exert a crucial role in the pathogenesis of Alzheimer disease (AD) by mediating the intramembranous cleavage of amyloid precursor protein (APP) and the generation of amyloid β-protein (Aβ).
Naoto Oikawa, Jochen Walter
doaj   +1 more source

Identification of an archaeal presenilin-like intramembrane protease. [PDF]

PLoS ONE, 2010
BACKGROUND: The GXGD-type diaspartyl intramembrane protease, presenilin, constitutes the catalytic core of the γ-secretase multi-protein complex responsible for activating critical signaling cascades during development and for the production of β-amyloid
Celia Torres-Arancivia, Carolyn M Ross, Jose Chavez, Zahra Assur, Georgia Dolios, Filippo Mancia, Iban Ubarretxena-Belandia   +6 more
doaj   +1 more source

Reduced SH3RF3 May Protect Against Alzheimer's Disease by Lowering Microglial Pro‐Inflammatory Responses via Modulation of JNK and NFkB Signaling

Glia, Volume 74, Issue 7, July 2026.
SNPs in SH3RF3 decrease the age of onset of Alzheimer's disease (AD). Reduced SH3RF3 blunts human microglial JNK and NFkB signaling and downstream inflammatory cytokine production, which may partially explain how SH3RF3 SNPs protect against AD. ABSTRACT Understanding how high‐risk individuals are protected from Alzheimer's disease (AD) may illuminate ...
Ronak Patel, Rong Cheng, Christopher L. Cardona, Ellen Angeles, Gunjandeep Singh, Sabrina Miller, Archana Ashok, Andrew F. Teich, Angel Piriz, Aleyda Maldonado, Ivonne Z. Jiménez‐Velázquez, Richard Mayeux, Joseph H. Lee, Andrew A. Sproul   +13 more
wiley   +1 more source

Identification of Ubiquilin, a Novel Presenilin Interactor That Increases Presenilin Protein Accumulation [PDF]

The Journal of Cell Biology, 2000
Mutations in the highly homologous presenilin genes encoding presenilin-1 and presenilin-2 (PS1 and PS2) are linked to early-onset Alzheimer's disease (AD). However, apart from a role in early development, neither the normal function of the presenilins nor the mechanisms by which mutant proteins cause AD are well understood.
A L, Mah, G, Perry, M A, Smith, M J, Monteiro   +3 more
openaire   +2 more sources

γ-Secretase Studied by Atomistic Molecular Dynamics Simulations: Global Dynamics, Enzyme Activation, Water Distribution and Lipid Binding

Frontiers in Chemistry, 2019
γ-secretase, an intramembrane-cleaving aspartyl protease is involved in the cleavage of a large number of intramembrane proteins. The most prominent substrate is the amyloid precursor protein, whose proteolytic processing leads to the production of ...
Manuel Hitzenberger, Martin Zacharias
doaj   +1 more source

ABCA7—A Member of the ABC Transporter Family in Healthy and Ailing Brain

Brain Sciences, 2020
Identification of genetic markers of a human disease, which is generally sporadic, may become an essential tool for the investigation of its molecular mechanisms.
Alexei A. Surguchev, Andrei Surguchov
doaj   +1 more source

Multi‐Targeting Ligands as Prospective Therapeutics for Alzheimer's Disease, a Prevalent Neurodegenerative Disorder: Mechanistic Insights, Emerging Targets and Drug Discovery Campaigns

Medicinal Research Reviews, Volume 46, Issue 4, Page 1173-1229, July 2026.
ABSTRACT Alzheimer's disease (AD) is a debilitating neurodegenerative condition characterized by progressive cognitive impairment, memory deterioration, and neuronal dysfunction. Its complex pathophysiology involves multiple interlinked processes, including amyloid‐β (Aβ) aggregation, tau hyperphosphorylation, oxidative stress, neuroinflammation ...
Amandeep Thakur, Mandeep Rana, Sakshi Vanjani, Kei‐Chi Liou, Rajeev Taliyan, Kunal Nepali, Chih‐Hao Yang   +6 more
wiley   +1 more source

Consequences of Amyloid‐β Deficiency for the Liver

Advanced Science
The hepatic content of amyloid beta (Aβ) decreases drastically in human and rodent cirrhosis highlighting the importance of understanding the consequences of Aβ deficiency in the liver.
Gayane Hrachia Buniatian, Ute Schwinghammer, Roman Tremmel, Holger Cynis, Thomas S. Weiss, Ralf Weiskirchen, Volker M. Lauschke, Sonia Youhanna, Isbaal Ramos, Maria Valcarcel, Torgom Seferyan, Jens‐Ulrich Rahfeld, Vera Rieckmann, Kathrin Klein, Marine Buadze, Victoria Weber, Valentina Kolak, Rolf Gebhardt, Scott L. Friedman, Ulrike C. Müller, Matthias Schwab, Lusine Danielyan   +21 more
doaj   +1 more source