Results 61 to 70 of about 24,368 (229)

A Presenilin 1 Mutation Associated with Familial Frontotemporal Dementia Inhibits γ-Secretase Cleavage of APP and Notch

Neurobiology of Disease, 2002
A novel presenilin 1 mutation, insR352, associated with a frontal temporal dementia phenotype has been identified (E. A. Rogaeva et al., 2001, Neurology 57, 621–625).
Zareen Amtul, Patrick A. Lewis, Sian Piper, Richard Crook, Matt Baker, Kirk Findlay, Andrew Singleton, Marion Hogg, Linda Younkin, Steven G. Younkin, John Hardy, Michael Hutton, Bradley F. Boeve, David Tang-Wai, Todd E. Golde   +14 more
doaj   +1 more source

Gene mutations associated with early onset familial Alzheimer’s disease in China: An overview and current status

Molecular Genetics & Genomic Medicine, 2020
Background Mutations of three causative genes, namely presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP), have been identified as the major causes of early‐onset familial Alzheimer's disease (EOFAD).
Qi Qin, Yunsi Yin, Yan Wang, Yuanyuan Lu, Yi Tang, Jianping Jia   +5 more
doaj   +1 more source

From regulatory mechanisms to cutting‐edge applications: Research progress of ultrasound, electrical, magnetic, and optical stimulation in neural modulation

Journal of Intelligent Medicine, EarlyView.
Abstract In recent years, the clinical treatment and symptom management of neurological disorders have faced significant challenges due to the high complexity of the nervous system's structure and function. Against this backdrop, physical stimulation techniques have emerged as a vital complementary approach to traditional pharmacological treatments and
Wanying Li, Liqun Chen
wiley   +1 more source

A Nine-transmembrane Domain Topology for Presenilin 1 [PDF]

Journal of Biological Chemistry, 2005
Presenilin (PS) provides the catalytic core of the gamma-secretase complex. Gamma-secretase activity leads to generation of the amyloid beta-peptide, a key event implicated in the pathogenesis of Alzheimer disease. PS has ten hydrophobic regions, which can all theoretically form membrane-spanning domains. Various topology models have been proposed, and
Hanna, Laudon, Emil M, Hansson, Karin, Melén, Anna, Bergman, Mark R, Farmery, Bengt, Winblad, Urban, Lendahl, Gunnar, von Heijne, Jan, Näslund   +8 more
openaire   +2 more sources

Early⁃onset Alzheimer's disease caused by PSEN1 gene mutation: two cases reports and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To report 2 pedigrees of early⁃onset familial Alzheimer's disease (EOFAD) caused by PSEN1 gene mutation, review previous studies and summarize the PSEN1 gene mutation sites, clinical presentation and genotype characteristics of EOFAD in China ...
ZHANG Yuan, SUN Meng⁃fan, JIA Zi⁃yan, JIANG Ji⁃wei, WANG Yan⁃li, XU Jun   +5 more
doaj   +1 more source

Neuroprotective effects of quercetin in animal models of neurodegenerative diseases: A systematic review and meta‐analysis

Journal of the Science of Food and Agriculture, EarlyView.
Abstract Neurodegenerative conditions such as Alzheimer's disease and Parkinson's disease are characterized by progressive neuronal loss driven by oxidative stress and inflammation. Quercetin, a dietary flavonoid with established antioxidant and anti‐inflammatory properties, has emerged as a potential neuroprotective agent.
In Ho Cho, Hendra Mahakam Putra, Cheol Woon Jung, Gyu Hwan Hyun, Hwan‐Hee Jang, In Guk Hwang, Sung Won Kwon   +6 more
wiley   +1 more source

Metabolism of Presenilin 1: Influence of Presenilin 1 on Amyloid Precursor Protein Processing

Neurobiology of Aging, 1998
To create model systems to examine presenilin 1 (PS1) metabolism in vivo, we generated transgenic mice expressing wild-type and A246E mutant human PS1. Our data indicate that both wild-type and mutant PS1 is endoproteolytically cleaved into 27 kDa N- and 17 kDa C-terminal fragments, which are the principal PS1 species found in normal mammalian brain ...
openaire   +2 more sources

Depletion of microglial compensation in glial network: Disease‐associated response dynamics in the revised amyloid hypothesis

Neuroprotection, EarlyView.
The critical transition from amyloid pathology to irreversible neuronal loss in Alzheimer's disease hinges on the microglial response. This review aims to systematize the patterns of how microglia react within the glial context. Abstract Microglia mount coordinated, stage‐dependent compensatory programs in response to early amyloid β (Aβ) accumulation ...
Songtao Lei, Zixuan Huang, Wen Wang, Yan Meng   +3 more
wiley   +1 more source

Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency

Cell Reports, 2016
Attenuated auto-lysosomal system has been associated with Alzheimer disease (AD), yet all underlying molecular mechanisms leading to this impairment are unknown. We show that the amino acid sensing of mechanistic target of rapamycin complex 1 (mTORC1) is
Kavya Reddy, Corey L. Cusack, Israel C. Nnah, Khoosheh Khayati, Chaitali Saqcena, Tuong B. Huynh, Scott A. Noggle, Andrea Ballabio, Radek Dobrowolski   +8 more
doaj   +1 more source

Neuroprotective effects of ursodeoxycholic acid in Parkinson's disease and Alzheimer's disease

Neuroprotection, EarlyView.
In Parkinson's disease (PD) and Alzheimer's disease (AD), various shared pathological mechanisms exist. UDCA has been shown to exert neuroprotective effects in preclinical and clinical studies. Such effects include the mitigation of neuroinflammation as well as rescue effects on mitochondrial dysfunction, oxidative stress, impaired autophagy, and ...
Ashley En Yi Chong, Andrew Octavian Sasmita, Rhun Yian Koh, Anna Pick Kiong Ling   +3 more
wiley   +1 more source