BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 31235249)

  • 1. Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization.
    Shen L; Qin W; Wu L; Zhou A; Tang Y; Wang Q; Jia L; Jia J
    Biochem Biophys Res Commun; 2019 Aug; 516(1):264-269. PubMed ID: 31235249
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation.
    Dong J; Qin W; Wei C; Tang Y; Wang Q; Jia J
    J Alzheimers Dis; 2017; 57(2):613-623. PubMed ID: 28269784
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease.
    Qiu Q; Jia L; Wang Q; Zhao L; Jin H; Li T; Quan M; Xu L; Li B; Li Y; Jia J
    Neurobiol Aging; 2020 Jan; 85():155.e1-155.e4. PubMed ID: 31235344
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease.
    Zhan Y; Zheng H; Wang C; Rong Z; Xiao N; Ma Q; Zhang YW
    Neurobiol Aging; 2017 Feb; 50():168.e1-168.e4. PubMed ID: 27836335
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio.
    Qiu Q; Shen L; Jia L; Wang Q; Li F; Li Y; Jia J
    J Alzheimers Dis; 2019; 69(1):199-212. PubMed ID: 30958370
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathogenic Aβ production by heterozygous PSEN1 mutations is intrinsic to the mutant protein and not mediated by conformational hindrance of wild-type PSEN1.
    Kurth V; Ogorek I; Münch C; Lopez-Rios J; Ousson S; Lehmann S; Nieweg K; Roebroek AJM; Pietrzik CU; Beher D; Weggen S
    J Biol Chem; 2023 Aug; 299(8):104997. PubMed ID: 37394008
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.
    Pimenova AA; Goate AM
    Neurobiol Dis; 2020 May; 138():104785. PubMed ID: 32032730
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Alzheimer presenilin-1 mutations dramatically reduce trimming of long amyloid β-peptides (Aβ) by γ-secretase to increase 42-to-40-residue Aβ.
    Fernandez MA; Klutkowski JA; Freret T; Wolfe MS
    J Biol Chem; 2014 Nov; 289(45):31043-52. PubMed ID: 25239621
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.
    Kakuda N; Takami M; Okochi M; Kasuga K; Ihara Y; Ikeuchi T
    Transl Psychiatry; 2021 Nov; 11(1):558. PubMed ID: 34728605
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells.
    Fang B; Jia L; Jia J
    Neurosci Lett; 2006 Oct; 406(1-2):33-7. PubMed ID: 16916581
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Knock-in rats with homozygous
    Tambini MD; D'Adamio L
    J Biol Chem; 2020 May; 295(21):7442-7451. PubMed ID: 32265300
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions.
    Keller L; Welander H; Chiang HH; Tjernberg LO; Nennesmo I; Wallin AK; Graff C
    Eur J Hum Genet; 2010 Nov; 18(11):1202-8. PubMed ID: 20628413
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Aβ43 levels determine the onset of pathological amyloid deposition.
    Tambini MD; Yin T; Yesiltepe M; Breuillaud L; Zehntner SP; d'Abramo C; Giliberto L; D'Adamio L
    J Biol Chem; 2023 Jul; 299(7):104868. PubMed ID: 37257821
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Generation and deposition of Aβ43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease.
    Kretner B; Trambauer J; Fukumori A; Mielke J; Kuhn PH; Kremmer E; Giese A; Lichtenthaler SF; Haass C; Arzberger T; Steiner H
    EMBO Mol Med; 2016 May; 8(5):458-65. PubMed ID: 26988102
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The identification of PSEN1 p.Tyr159Ser mutation in a non-canonic early-onset Alzheimer's disease family.
    Li H; Li Y; Liang W; Wei ZZ; Li X; Tian Y; Qiao S; Yang Y; Yang L; Wu D; Yin W; Liu H; Zhang W; Zhang Y; Wang Z
    Mol Cell Neurosci; 2022 May; 120():103715. PubMed ID: 35247599
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of PSEN1 mutations p.M233L and p.R352C in Han Chinese families with early-onset familial Alzheimer's disease.
    Jiang HY; Li GD; Dai SX; Bi R; Zhang DF; Li ZF; Xu XF; Zhou TC; Yu L; Yao YG
    Neurobiol Aging; 2015 Mar; 36(3):1602.e3-6. PubMed ID: 25595498
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial Alzheimer's disease mutations in presenilin 1 do not alter levels of the secreted amyloid-beta protein precursor generated by beta-secretase cleavage.
    Zhang C; Browne A; Kim DY; Tanzi RE
    Curr Alzheimer Res; 2010 Feb; 7(1):21-6. PubMed ID: 20205669
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Enhanced accumulation of phosphorylated alpha-synuclein and elevated beta-amyloid 42/40 ratio caused by expression of the presenilin-1 deltaT440 mutant associated with familial Lewy body disease and variant Alzheimer's disease.
    Kaneko H; Kakita A; Kasuga K; Nozaki H; Ishikawa A; Miyashita A; Kuwano R; Ito G; Iwatsubo T; Takahashi H; Nishizawa M; Onodera O; Sisodia SS; Ikeuchi T
    J Neurosci; 2007 Nov; 27(48):13092-7. PubMed ID: 18045903
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Attenuated presenilin-1 endoproteolysis enhances store-operated calcium currents in neuronal cells.
    Ryazantseva M; Skobeleva K; Glushankova L; Kaznacheyeva E
    J Neurochem; 2016 Mar; 136(5):1085-95. PubMed ID: 26678016
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Developing a Gene Therapy for the Treatment of Autosomal Dominant Alzheimer's Disease.
    Moore B; Sharma A; Goulet M; Suter T; Pelletier C; Hu R; Schaeffer E; Kelleher RJ
    Hum Gene Ther; 2023 Oct; 34(19-20):1049-1063. PubMed ID: 37578141
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.