Results 31 to 40 of about 26,399 (217)
Chromosome Missegregation and Trisomy 21 Mosaicism in Alzheimer's Disease
Neurobiology of Disease, 1999 A connection between Alzheimer's disease (AD) and Down syndrome (trisomy 21) is indicated by the fact that all Down syndrome individuals develop Alzheimer's disease neuropathology by the 4th decade of life. Previous studies have examined the frequency of
Lisa N. Geller, Huntington Potter
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Cellular functions of gamma-secretase-related proteins [PDF]
, 2006 Amyloid-beta pepticle (A beta) is generated by gamma-secretase, a membrane protein complex with an unusual aspartyl protease activity consisting of the four components presenilin, nicastrin, APH-1 and PEN-2. Presenilin is considered the catalytic subunit
Haass, Christian, Haffner, Christof
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Inactivation of presenilins causes pre-synaptic impairment prior to post-synaptic dysfunction [PDF]
, 2010 Synaptic dysfunction is widely thought to be a pathogenic precursor to neurodegeneration in Alzheimer’s disease (AD), and the extent of synaptic loss provides the best correlate for the severity of dementia in AD patients.
Ho, Angela +5 more
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Presenilin 2 is the predominant γ-secretase in microglia and modulates cytokine release. [PDF]
PLoS ONE, 2010 Presenilin 1 (PS1) and Presenilin 2 (PS2) are the enzymatic component of the γ-secretase complex that cleaves amyloid precursor protein (APP) to release amyloid beta (Aβ) peptide.
Suman Jayadev +8 more
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Neurodegeneration: Potential Causes, Prevention, and Future Treatment Options [PDF]
, 2011 Here I advance a hypothesis that neurodegeneration is a natural process associated with aging due to the loss of genetic redundancy following a mathematical model R(t) = R0(1-αe(βC+γI+δEt)t), where the calorie intake (C) and ...
Zhongtao Zhang
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Presenilins Upregulate Functional K+Channel Currents in Mammalian Cells
Neurobiology of Disease, 1998 Mutations in presenilin 1 (PS-1) and presenilin 2 (PS-2) have been linked to early onset, autosomal dominant Alzheimer's disease. Neither the normal function(s) of the presenilins nor their role(s) in mediating the devastating neurological and ...
Sacha A. Malin +4 more
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BMC Genetics, 2009 Background Presenilin proteins are part of a complex of proteins that can cleave many type I transmembrane proteins, including Notch Receptors and the Amyloid Precursor Protein, in the middle of the transmembrane domain.
Aubert Sylvie +3 more
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Presenilin-2 modulation of ER-mitochondria interactions [PDF]
Communicative & Integrative Biology, 2011 Presenilin (PS) mutations are the main cause of Familial Alzheimer's Disease (FAD) and have been demonstrated to cause an imbalance of intracellular Ca(2+) homeostasis. Though PS1 and 2 are generally considered to behave similarly in terms of their effects on Ca(2+) handling, we have recently described a novel function, which is unique to PS2, i.e ...
ZAMPESE, ENRICO +3 more
openaire +3 more sources
Stem Cell Research, 2017 Alzheimer's disease (AD) is one of the most common neurodegenerative disorders. Previous studies have identified mutations in several genes, such as amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2), in patients with early ...
Zhilei Wang +11 more
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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 +5 more
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