Dominant forms of Alzheimer's disease: From genotype to phenotype;Les formes dominantes de maladie d'Alzheimer: Du génotype au phénotype

Revue Neurologique

Volumn 157, Issue 4, 2001, Pages 384-392

  Hannequin, D ^a   Campion, D ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1; PRESENILIN 2;

ALZHEIMER DISEASE; ANIMAL EXPERIMENT; ANIMAL MODEL; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; GENE MUTATION; GENOTYPE; MOUSE; NONHUMAN; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; TRANSGENIC MOUSE;

ADULT; AGED; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; AMYLOID BETA-PROTEIN; AMYLOID BETA-PROTEIN PRECURSOR; ANIMALS; COGNITION; GENOTYPE; HUMANS; MICE; MICE, TRANSGENIC; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PHENOTYPE;

EID: 0034973067     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (60)

1. α-Secretase-derived product of β-amyloid precursor protein is decreased by presenilin 1 mutations linked to familial Alzheimer's disease
2. Unusual phenotypic alteration of B amyloid precursor protein (BetaAPP) maturation by a new Val-715 → Met BetaAPP-770 mutation responsible for probable early-onset Alzheimer's disease
3. Wide range of disease onset in a family with Alzheimer disease and a His 163Tyr mutation in the presenilin - 1 Gene
4. Calsenilin: A calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment
5. Neuron loss in APP transgenic mice
6. Early-onset autosomal dominant Alzheimer's disease: Prevalence, genetic heterogeneity and mutation spectrum
7. Impaired synaptic plasticity and learning in aged amyloid precursor protein transgenic mice
8. Transgenic mice with alzheimer presenilin 1 mutations show accelerated neurodegeneration without amyloid plaque formation
9. Mutant presenilins of alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice
10. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
11. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
12. An alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos
13. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased A β42 secretion
14. Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein
15. A presenilin-1-dependent γ-secretase-like protease mediates release of notch intracellular domain
16. Presenilins interact with rab11, a small GTPase involved in the regulation of vesicular transport
17. High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
18. Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene Pedigree but not mutation specific age at onset provides evidence for a further genetic factor
19. Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein
20. Alzheimer's presenilin mutation sensitizes neural cells to apoptosis induced by trophic factor withdrawal an amyloid β-peptide: Involvement of calcium and oxyradicals
21. Génétique de la maladie d'Alzheimer
22. Amyloid, the presenilins and alzheimer's disease
23. Age-related CNS disorder and early death in transgenic FVB/N mice overexpressing alzheimer amyloid precursor proteins
24. Correlative memory deficits, Aβ elevation, and amyloid plaques in transgenic mice
25. The presenilins and Alzheimer's disease
26. Seeding «one-dimensional crystallization» of amyloid: A pathogenic mechanism in Alzheimer's disease and scrapie?
27. Two novel (M233T and R278 T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype
28. Novel Leu Pro amyloid precursor protein mutation increases amyloid β42 (43) peptide levels and induces apoptosis
29. The alzheimer's Aβ peptide induces neurodegeneration and apoptotic cell death in transgenic mice
30. The «nonamyloidogenic» p3 fragment (amyloid β17-42) is a major constituent of Down's syndrome cerebellar preamyloid
31. Photoactivated γ-secrétase inhibitors directed to the active site covalenttly label presenilin 1
32. β-amyloid neurotoxicity requires fibril formation and is inhibited by congo red
33. Amyloid β protein (Aβ) deposition in chromosome 14-linked alzheimer's disease: Predominance of Aβ 42 (43)
34. The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease
35. Early phenotypic changes in transgenic mice that overexpress different mutants of amyloid precursor protein in brain
36. Enhancement of amyloid β 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease
37. A novel mutation at 717 in the Amyloid Precursor Protein (APP) gene described in a family with early-onset Alzheimer disease
38. Effects of PS1 deficiency on membrane protein trafficking in neurons
39. Alzheimer's disease: A re-examination of the amyloid hypothesis
40. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene
41. Missence mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
42. Formation of β-amyloid protein deposits in brains of transgenic mice
43. Evidence for a physical interaction between peresenilin and notch
44. Splicing mutation of presenelin 1 gene for early familial Alzheimer's disease
45. The cell biology of β-amyloid precursor protein and presenilin in Alzheimer's disease
46. Skeletal and CNS defects in presenilin-1-deficient mice
47. Function and dysfunction of the presenilins
48. Presenilin is required for activity and nuclear access of Notch in Drosophila
49. Two amyloid precursor protein transgenic mouse models with alzheimer disease-like pathology
50. An increased percentage of long amyloid β protein secreted by familial amyloid β protein precursor (β APP717) mutants
51. Presenilin 1 associates with glycogen synthase kinase-3β and its substrate tau
52. Variant Alzheimer's disease with spastic paraparesis
53. A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years
54. Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and γ-secretase activity
55. Presenilin 1 regulates the processing of β-protein in endoplasmic reticulum and golgi
56. Interaction between amyloid precursor protein and presenilins in mammalian cells: Implications for the pathogenesis of alzheimer disease
57. G Protein-mediated neuronal DNA fragmentation induced by familial alzheimer's disease-associated mutants of APP
58. Mechanisms of neuronal degeneration in alzheimer's disease
59. Evidence that A β42 is the real culprit in Alzheimer's disease
60. Destabilization of β-catenin by mutations in presenilin-1 potentiates neuronal apoptosis