Results 71 to 80 of about 26,399 (217)
Familial Alzheimer’s Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis
Cell Reports, 2021 Summary: Mutations in presenilin 1 (PSEN1) or presenilin 2 (PSEN2), the catalytic subunit of γ-secretase, cause familial Alzheimer’s disease (fAD). We hypothesized that mutations in PSEN1 reduce Notch signaling and alter neurogenesis.
Charles Arber +14 more
doaj +1 more source
Mitophagy in skeletal muscle: Impact of ageing, exercise and disuse
Experimental Physiology, EarlyView.Abstract Skeletal muscle plays an important role in whole‐body health, quality of life and regulation of metabolism. The maintenance of a healthy mitochondrial pool is imperative for the preservation of skeletal muscle quality and is mediated through mitochondrial quality control consisting of mitochondrial turnover mediated by a balance between ...
Anastasiya Kuznyetsova, David A. Hood
wiley +1 more source
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) +9 more
core +2 more sources
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 +4 more
wiley +1 more source
A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer’s disease
Clinical Interventions in Aging, 2018 Vo Van Giau,1,* Jung-Min Pyun,2,* Eva Bagyinszky,2 Seong Soo A An,1 SangYun Kim2 1Department of BioNano Technology, Gachon Medical Research Institute, Gachon University, Seongnam, South Korea; 2Department of Neurology, Seoul National University College ...
Giau VV +4 more
doaj
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 +4 more
doaj +1 more source
A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer’s Disease in a Chinese Family
Frontiers in Genetics, 2020 Familial Alzheimer’s disease (FAD) present as a positive family history of cognitive decline, with early onset and an autosomal dominant inheritance pattern. FAD is mainly caused by the mutations in the genes encoding for amyloid precursor protein (APP),
Bin Jiang +10 more
doaj +1 more source
FHL2 regulates hematopoietic stem cell functions under stress conditions. [PDF]
, 2015 FHL2, a member of the four and one half LIM domain protein family, is a critical transcriptional modulator. Here, we identify FHL2 as a critical regulator of hematopoietic stem cells (HSCs) that is essential for maintaining HSC self-renewal under ...
Chen, J +12 more
core +2 more sources
Redox Regulation and Oxidative Stress in Health and Disease: Mechanisms and Therapeutic Targeting
MedComm – Future Medicine, Volume 5, Issue 2, June 2026.Reactive species serve crucial roles which are tightly regulated in both physiological as well as disease states. At physiological levels, these species are integral to redox signaling, while uncontrolled redox promotes disease pathology. This review examines the dysregulation of these processes.
Mohammad Hossein Azadi +2 more
wiley +1 more source
Early Diagnosis of Alzheimer's disease by NIRF Spectroscopy and Nuclear Medicine-v.4.0 [PDF]
, 2011 There is an urgent need for the early detection of diseases such as Alzheimer’s (AD) and Cancers in order to enable their successful treatment. Cancer is the second major cause of death after Heart Disease, and AD is the third major cause of death
I Baianu
core +1 more source