| scholarly article | Q13442814 |
| P2093 | author name string | Ilya Bezprozvanny | |
| Charlene Supnet | |||
| Omar Nelson | |||
| Huarui Liu | |||
| P2860 | cites work | Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations | Q24301868 |
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| The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics | Q27860914 | ||
| Presenilin-1 maintains a nine-transmembrane topology throughout the secretory pathway | Q28252623 | ||
| Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein | Q28260479 | ||
| A nine-transmembrane domain topology for presenilin 1 | Q28263814 | ||
| Presenilin mutations in Alzheimer's disease | Q28265922 | ||
| Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17 | Q28274687 | ||
| Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene | Q28280248 | ||
| Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms | Q28290934 | ||
| Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity | Q29616491 | ||
| Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins | Q33286495 | ||
| Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses | Q34831241 | ||
| Alzheimer's disease with spastic paresis and cotton wool type plaques | Q34976274 | ||
| Internal Ca2+ mobilization is altered in fibroblasts from patients with Alzheimer disease | Q34982214 | ||
| Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy | Q35454948 | ||
| Calcium dysregulation in Alzheimer's disease: recent advances gained from genetically modified animals | Q36241923 | ||
| Defective signal transduction in B lymphocytes lacking presenilin proteins | Q36458887 | ||
| Neuronal calcium mishandling and the pathogenesis of Alzheimer's disease | Q36934762 | ||
| Variable phenotype of Alzheimer's disease with spastic paraparesis | Q36998026 | ||
| Loss of progranulin function in frontotemporal lobar degeneration | Q37105126 | ||
| Linking Abeta and tau in late-onset Alzheimer's disease: a dual pathway hypothesis | Q37336139 | ||
| The amyloid hypothesis for Alzheimer's disease: a critical reappraisal | Q37490185 | ||
| gamma-secretases: from cell biology to therapeutic strategies | Q37686625 | ||
| Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques | Q40238153 | ||
| A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques | Q40841627 | ||
| Presenilin 1 controls gamma-secretase processing of amyloid precursor protein in pre-golgi compartments of hippocampal neurons | Q42056692 | ||
| Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease | Q42166471 | ||
| Resting [Ca2+]i and [Ca2+]i transients are similar in fibroblasts from normal and Alzheimer's donors | Q43483572 | ||
| Cotton wool plaques in non-familial late-onset Alzheimer disease | Q43798230 | ||
| A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum | Q44059264 | ||
| Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy. | Q44257207 | ||
| Early‐onset Alzheimer's disease with presenilin‐1 M139V mutation: clinical, neuropsychological and neuropathological study | Q44444462 | ||
| Pick bodies in a family with presenilin-1 Alzheimer's disease | Q45204462 | ||
| A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis | Q48098476 | ||
| PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier | Q48173156 | ||
| Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions | Q48375022 | ||
| Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study | Q48400369 | ||
| Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. | Q48473552 | ||
| A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. | Q48488880 | ||
| Calcium, membranes, aging, and Alzheimer's disease. Introduction and overview. | Q53188131 | ||
| A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. | Q53265419 | ||
| Total inactivation of gamma-secretase activity in presenilin-deficient embryonic stem cells. | Q53341825 | ||
| Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease | Q57419118 | ||
| Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations | Q59099390 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Alzheimer's disease | Q11081 |
| endoplasmic reticulum | Q79927 | ||
| P304 | page(s) | 781-793 | |
| P577 | publication date | 2010-01-01 | |
| P1433 | published in | Journal of Alzheimer's Disease | Q6294755 |
| P1476 | title | Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes | |
| P478 | volume | 21 |
| Q35106556 | A functional polymorphism in the promoter region of microRNA-146a is associated with the risk of Alzheimer disease and the rate of cognitive decline in patients |
| Q90399530 | Biochemical Markers in Alzheimer's Disease |
| Q38122497 | Biological function of Presenilin and its role in AD pathogenesis |
| Q42534539 | Calcium homeostasis in aging neurons |
| Q48942773 | Calcium signalling and Alzheimer's disease |
| Q38935052 | Calcium's role as nuanced modulator of cellular physiology in the brain. |
| Q28535175 | Development and implementation of a high-throughput compound screening assay for targeting disrupted ER calcium homeostasis in Alzheimer's disease |
| Q38408049 | Disturbed calcium signaling in spinocerebellar ataxias and Alzheimer's disease |
| Q57131389 | Dysregulation of Intracellular Calcium Signaling in Alzheimer's Disease |
| Q38958106 | Dysregulation of neuronal calcium homeostasis in Alzheimer's disease - A therapeutic opportunity? |
| Q35122788 | Endoplasmic reticulum Ca(2+) handling in excitable cells in health and disease |
| Q38259624 | Endoplasmic reticulum stress as a novel neuronal mediator in Alzheimer's disease |
| Q37679933 | Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis |
| Q35565682 | Functional genomic screen and network analysis reveal novel modifiers of tauopathy dissociated from tau phosphorylation |
| Q64228309 | Glycogen Synthase Kinase 3 Beta Controls Presenilin-1-Mediated Endoplasmic Reticulum Ca²⁺ Leak Directed to Mitochondria in Pancreatic Islets and β-Cells |
| Q42016349 | Interactions of endoplasmic reticulum and mitochondria Ca(2+) stores with capacitative calcium entry |
| Q93000628 | Intracellular Calcium Dysregulation by the Alzheimer's Disease-Linked Protein Presenilin 2 |
| Q37293997 | Involvement of presenilin holoprotein upregulation in calcium dyshomeostasis of Alzheimer's disease |
| Q35879583 | Lack of evidence for presenilins as endoplasmic reticulum Ca2+ leak channels |
| Q36789590 | Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease |
| Q51758072 | MicroRNA Expression Levels Are Altered in the Cerebrospinal Fluid of Patients with Young-Onset Alzheimer's Disease. |
| Q33885492 | Mutagenesis mapping of the presenilin 1 calcium leak conductance pore |
| Q26801323 | New and notable ion-channels in the sarcoplasmic/endoplasmic reticulum: do they support the process of intracellular Ca(2+) release? |
| Q41853546 | Presenilin adopts the ClC channel fold |
| Q38120346 | Presenilins and calcium signaling-systems biology to the rescue |
| Q37904894 | Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis |
| Q37887931 | Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis |
| Q36085259 | Presenilins: a novel link between intracellular calcium signaling and lysosomal function? |
| Q34999034 | Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis |
| Q61445489 | Reduced presynaptic vesicle stores mediate cellular and network plasticity defects in an early-stage mouse model of Alzheimer's disease |
| Q33554241 | Reduced synaptic STIM2 expression and impaired store-operated calcium entry cause destabilization of mature spines in mutant presenilin mice |
| Q37180013 | Role of endoplasmic reticulum Ca2+ signaling in the pathogenesis of Alzheimer disease |
| Q34003214 | Role of presenilins in neuronal calcium homeostasis |
| Q38217975 | Ryanodine receptors: physiological function and deregulation in Alzheimer disease. |
| Q27000356 | The synaptic maintenance problem: membrane recycling, Ca2+ homeostasis and late onset degeneration |
| Q30465782 | Transcript diversification in the nervous system: a to I RNA editing in CNS function and disease development |
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