Cargando…

An intronic rare mutation in Presenilin-1 (PSEN-1) gene may be involved in the developement of Alzheimer’s disease

Detalles Bibliográficos
Autores principales:	Bhaumik, Pranami, Ghosh, Priyanka, Dey, Subrata K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043903/ http://dx.doi.org/10.1186/1755-8166-7-S1-P25

Ejemplares similares

COL6A1 loss of function mutation underlie atrioventricular septal defects in down syndrome patients
por: Ghosh, Priyanka, et al.
Publicado: (2014)

Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births
por: Bhaumik, Pranami, et al.
Publicado: (2017)

Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer’s Disease
por: Yang, Youngsoon, et al.
Publicado: (2023)

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene
por: Bagaria, Jaya, et al.
Publicado: (2022)

Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout
por: Arber, Charles, et al.
Publicado: (2019)

Parkin acts as a transcription factor modulating presenilin-1 and presenilin-2 promoter transactivations
por: Duplan, Eric, et al.
Publicado: (2013)

Presenilins in Alzheimer’s disease and frontotemporal dementia
por: Shen, Jie
Publicado: (2012)

Function and dysfunction of presenilin in Alzheimer’s disease
por: Shen, Jie
Publicado: (2013)

APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease
por: Giau, Vo Van, et al.
Publicado: (2019)

Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
por: Cruchaga, Carlos, et al.
Publicado: (2012)

Correction: Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
por: Cruchaga, Carlos, et al.
Publicado: (2012)

A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer’s Disease in a Large Italian Family
por: Tortelli, Rosanna, et al.
Publicado: (2021)

Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy
por: Li, Xu-Ying, et al.
Publicado: (2021)

The R278I Mutation of PSEN1 in the Familial Alzheimer Disease
por: Kim, Jong Hun, et al.
Publicado: (2020)

Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease
por: Nho, Kwangsik, et al.
Publicado: (2016)

APP, PSEN1, and PSEN2 Variants in Alzheimer’s Disease: Systematic Re-evaluation According to ACMG Guidelines
por: Xiao, Xuewen, et al.
Publicado: (2021)

Human Presenilin-1 delivered by AAV9 rescues impaired γ-secretase activity, memory deficits, and neurodegeneration in Psen mutant mice
por: Montenegro, Paola, et al.
Publicado: (2023)

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
por: Lanoiselée, Hélène-Marie, et al.
Publicado: (2017)

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease
por: Sassi, Celeste, et al.
Publicado: (2014)

Gamma secretase orthologs are required for lysosomal activity and autophagic degradation in Dictyostelium discoideum, independent of PSEN (presenilin) proteolytic function
por: Sharma, Devdutt, et al.
Publicado: (2019)

Involvement of presenilin holoprotein upregulation in calcium dyshomeostasis of Alzheimer's disease
por: Honarnejad, Kamran, et al.
Publicado: (2013)

Amyloid-β(1–43) cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
por: Perrone, Federica, et al.
Publicado: (2020)

CSF Presenilin-1 complexes are increased in Alzheimer’s disease
por: García-Ayllón, María-Salud, et al.
Publicado: (2013)

The associations of APP , PSEN1 , and PSEN2 genes with Alzheimer's disease: A large case–control study in Chinese population
por: Xiao, Xuewen, et al.
Publicado: (2022)

Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease
por: Chelban, Viorica, et al.
Publicado: (2021)

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2
por: Hsu, Simon, et al.
Publicado: (2020)

Repurposing bromocriptine for Aβ metabolism in Alzheimer’s disease (REBRAnD) study: randomised placebo-controlled double-blind comparative trial and open-label extension trial to investigate the safety and efficacy of bromocriptine in Alzheimer’s disease with presenilin 1 (PSEN1) mutations
por: Kondo, Takayuki, et al.
Publicado: (2021)

iPSC Modeling of Presenilin1 Mutation in Alzheimer's Disease with Cerebellar Ataxia
por: Li, Ling, et al.
Publicado: (2018)

Identification of PSEN1 and APP Gene Mutations in Korean Patients with Early-Onset Alzheimer's Disease
por: Park, Hyun-Kyung, et al.
Publicado: (2008)

Familial Alzheimer’s Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis
por: Arber, Charles, et al.
Publicado: (2021)

Presenilin mutations and their impact on neuronal differentiation in Alzheimer’s disease
por: Hernández-Sapiéns, Mercedes A., et al.
Publicado: (2021)

Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer’s Disease
por: Li, Yu-Sheng, et al.
Publicado: (2019)

Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer’s Disease With Early Presentation of Behavioral Disturbance
por: Zhang, Shouzi, et al.
Publicado: (2020)

Switched Aβ43 generation in familial Alzheimer’s disease with presenilin 1 mutation
por: Kakuda, Nobuto, et al.
Publicado: (2021)

Alzheimer's disease-causing presenilin-1 mutations have deleterious effects on mitochondrial function
por: Han, Jihoon, et al.
Publicado: (2021)

Presence of a mutation in PSEN1 or PSEN2 gene is associated with an impaired brain endothelial cell phenotype in vitro
por: Raut, Snehal, et al.
Publicado: (2021)

From EST to structure models for functional inference of APP, BACE1, PSEN1, PSEN2 genes
por: Aathi, Muthusankar, et al.
Publicado: (2019)

A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease
por: Vélez, Jorge I., et al.
Publicado: (2016)

PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea
por: Bagyinszky, Eva, et al.
Publicado: (2016)

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease
por: Van Giau, Vo, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_3rofksmdptetvo903smraq811e