Literature DB >> 17345043

Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease.

Carmine Tomaino, Livia Bernardi, Maria Anfossi, Angela Costanzo, Francesca Ferrise, Maura Gallo, Silvana Geracitano, Raffaele Maletta, Sabrina A M Curcio, Maria Mirabelli, Rosanna Colao, Francesca Frangipane, Gianfranco Puccio, Cinzia Calignano, Maria Gabriella Muraca, Annamaria Paonessa, Nicoletta Smirne, Attilio Leotta, Amalia C Bruni.   

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Year:  2007        PMID： 17345043     DOI： 10.1007/s00415-006-0373-y

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  11 in total

1.  Presenilin mutations line up along transmembrane alpha-helices.

Authors:  J Hardy; R Crook
Journal:  Neurosci Lett       Date:  2001-06-29       Impact factor: 3.046

2.  High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

Authors:  U Finckh; T Müller-Thomsen; U Mann; C Eggers; J Marksteiner; W Meins; G Binetti; A Alberici; C Hock; R M Nitsch; A Gal
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

Authors:  Emily S Walker; Maribel Martinez; Anne L Brunkan; Alison Goate
Journal:  J Neurochem       Date:  2005-01       Impact factor: 5.372

4.  Age-dependent expression of familial risk in Alzheimer's disease.

Authors:  J C Breitner; E A Murphy; J M Silverman; R C Mohs; K L Davis
Journal:  Am J Epidemiol       Date:  1988-09       Impact factor: 4.897

5.  A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.

Authors:  A Lleó; R Blesa; J Gendre; M Castellví; P Pastor; R Queralt; R Oliva
Journal:  Neurology       Date:  2001-11-27       Impact factor: 9.910

6.  Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.

Authors:  Alberto Lleó; Rafael Blesa; Rosa Queralt; Mario Ezquerra; José L Molinuevo; Jordi Peña-Casanova; Ana Rojo; Rafael Oliva
Journal:  Arch Neurol       Date:  2002-11

7.  De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

Authors:  C Dumanchin; A Brice; D Campion; D Hannequin; C Martin; V Moreau; Y Agid; M Martinez; F Clerget-Darpoux; T Frebourg
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

8.  Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.

Authors:  R Sherrington; S Froelich; S Sorbi; D Campion; H Chi; E A Rogaeva; G Levesque; E I Rogaev; C Lin; Y Liang; M Ikeda; L Mar; A Brice; Y Agid; M E Percy; F Clerget-Darpoux; S Piacentini; G Marcon; B Nacmias; L Amaducci; T Frebourg; L Lannfelt; J M Rommens; P H St George-Hyslop
Journal:  Hum Mol Genet       Date:  1996-07       Impact factor: 6.150

9.  Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene.

Authors:  D Levitan; I Greenwald
Journal:  Nature       Date:  1995-09-28       Impact factor: 49.962

10.  Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.

Authors:  Andrea Tedde; Benedetta Nacmias; Monica Ciantelli; Paolo Forleo; Elena Cellini; Silvia Bagnoli; Carolina Piccini; Paolo Caffarra; Enrico Ghidoni; Marco Paganini; Laura Bracco; Sandro Sorbi
Journal:  Arch Neurol       Date:  2003-11
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  8 in total

1.  Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

Authors:  Ebba Lohmann; Rita J Guerreiro; Nihan Erginel-Unaltuna; Nicole Gurunlian; Basar Bilgic; Hakan Gurvit; Hasmet A Hanagasi; Nga Luu; Murat Emre; Andrew Singleton
Journal:  Neurobiol Aging       Date:  2012-04-13       Impact factor: 4.673

2.  Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.

Authors:  Suman Jayadev; James B Leverenz; Ellen Steinbart; Justin Stahl; William Klunk; Cheng-En Yu; Thomas D Bird
Journal:  Brain       Date:  2010-04       Impact factor: 13.501

3.  Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.

Authors:  Aurelie N'Songo; Minerva M Carrasquillo; Xue Wang; Thuy Nguyen; Yan Asmann; Steven G Younkin; Mariet Allen; Ranjan Duara; Maria T Greig Custo; Neill Graff-Radford; Nilüfer Ertekin-Taner
Journal:  J Alzheimers Dis       Date:  2017       Impact factor: 4.472

Review 4.  Alzheimer's disease genetics: from the bench to the clinic.

Authors:  Celeste M Karch; Carlos Cruchaga; Alison M Goate
Journal:  Neuron       Date:  2014-07-02       Impact factor: 17.173

5.  Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Authors:  Carlos Cruchaga; Gabe Haller; Sumitra Chakraverty; Kevin Mayo; Francesco L M Vallania; Robi D Mitra; Kelley Faber; Jennifer Williamson; Tom Bird; Ramon Diaz-Arrastia; Tatiana M Foroud; Bradley F Boeve; Neill R Graff-Radford; Pamela St Jean; Michael Lawson; Margaret G Ehm; Richard Mayeux; Alison M Goate
Journal:  PLoS One       Date:  2012-02-01       Impact factor: 3.240

Review 6.  Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

Authors:  Yan Cai; Seong Soo A An; SangYun Kim
Journal:  Clin Interv Aging       Date:  2015-07-14       Impact factor: 4.458

7.  Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Authors:  Laura Ibanez; Umber Dube; Albert A Davis; Maria V Fernandez; John Budde; Breanna Cooper; Monica Diez-Fairen; Sara Ortega-Cubero; Pau Pastor; Joel S Perlmutter; Carlos Cruchaga; Bruno A Benitez
Journal:  Front Neurosci       Date:  2018-04-10       Impact factor: 4.677

8.  Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Authors:  Celeste M Karch; Damián Hernández; Jen-Chyong Wang; Jacob Marsh; Alex W Hewitt; Simon Hsu; Joanne Norton; Denise Levitch; Tamara Donahue; Wendy Sigurdson; Bernardino Ghetti; Martin Farlow; Jasmeer Chhatwal; Sarah Berman; Carlos Cruchaga; John C Morris; Randall J Bateman; Alice Pébay; Alison M Goate
Journal:  Alzheimers Res Ther       Date:  2018-07-25       Impact factor: 6.982
  8 in total

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