4.7 Article

Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred

Related references

Note: Only part of the references are listed.
Article Cell Biology

Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer's disease-specific cis-regulatory elements

Ashlyn G. Anderson et al.

Summary: This study utilized single nucleus multiomics to analyze cell type-specific transcriptional differences in brain tissues from Alzheimer's disease (AD) patients. The researchers identified candidate cis-regulatory elements and transcription factors that play important roles in AD-specific gene regulation in neurons and microglia.

CELL GENOMICS (2023)

Article Neurosciences

Secretases in Alzheimer's disease: Novel insights into proteolysis of APP and TREM2

Stefan F. Lichtenthaler et al.

Summary: Secretases are key drug targets for preventing and treating Alzheimer's disease, involving the cleavage of APP and TREM2. Recent discoveries highlight the role of alpha-secretases and novel proteins in controlling alpha- and beta-secretase activity. Opportunities and challenges exist for pharmacologically targeting secretases to prevent or treat AD.

CURRENT OPINION IN NEUROBIOLOGY (2022)

Article Biochemistry & Molecular Biology

The chaperone Clusterin in neurodegeneration-friend or foe?

Patricia Yuste-Checa et al.

Summary: Fibrillar protein aggregates are a common feature in neurodegenerative diseases. Clusterin, an extracellular chaperone, plays a complex role in the progression of Alzheimer's and Parkinson's disease by modulating the formation and propagation of Tau and alpha-Synuclein aggregates.

BIOESSAYS (2022)

Article Genetics & Heredity

New insights into the genetic etiology of Alzheimer's disease and related dementias

Celine Bellenguez et al.

Summary: By characterizing the genetic landscape of Alzheimer's disease and related dementias, new loci have been identified and a new genetic risk score associated with the risk of future Alzheimer's disease and dementia has been generated.

NATURE GENETICS (2022)

Article Clinical Neurology

Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel A Meta-analysis

Brian W. Kunkle et al.

Summary: This study identified additional Alzheimer disease risk loci in African American individuals, indicating that the disease risk in this population differs from other ethnic groups.

JAMA NEUROLOGY (2021)

Review Clinical Neurology

The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science

Agustin Ibanez et al.

Summary: Dementia rates are increasing in Latin America, posing unprecedented challenges for patients, families, and health systems. Initiatives like ReDLat and LAC-CD aim to address these challenges by fostering cross-national connections, strengthening health system infrastructure, and promoting research collaborations across the continent.

FRONTIERS IN NEUROLOGY (2021)

Review Geriatrics & Gerontology

The Unifying Hypothesis of Alzheimer's Disease: Heparan Sulfate Proteoglycans/Glycosaminoglycans Are Key as First Hypothesized Over 30 Years Ago

Alan David Snow et al.

Summary: The updated Unifying Hypothesis of Alzheimer's disease links early accumulation of heparan sulfate proteoglycans (HSPGs) and heparan sulfate glycosaminoglycans (GAGs) to the formation of plaques and tangles in the brain, implicating them as key factors in the disease. Bacteria and viruses use cell surface HS GAGs to rapidly increase A beta fibril aggregation, while knockout of HS genes reduces A beta fibril accumulation in the brain. AD-in-a-dish studies show that Matrigel, containing the same specific HSPG implicated in AD, can induce plaque and tangle formation in a dish. Neurons full of HS demonstrate accumulation of A beta, tau, and other proteins, indicating that HS GAG accumulation is a precursor to A beta accumulation in neurons.

FRONTIERS IN AGING NEUROSCIENCE (2021)

Article Neurosciences

Familial Alzheimer's Disease and Recessive Modifiers

Jorge I. Velez et al.

MOLECULAR NEUROBIOLOGY (2020)

Review Clinical Neurology

Interpretation of risk loci from genome-wide association studies of Alzheimer's disease

Shea J. Andrews et al.

LANCET NEUROLOGY (2020)

Review Neurosciences

Genetic architecture of Alzheimer's disease

Sarah M. Neuner et al.

NEUROBIOLOGY OF DISEASE (2020)

Article Biochemistry & Molecular Biology

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report

Joseph F. Arboleda-Velasquez et al.

NATURE MEDICINE (2019)

Article Multidisciplinary Sciences

Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis

Xiaopu Zhou et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Article Psychiatry

GWAS on family history of Alzheimer's disease

Riccardo E. Marioni et al.

TRANSLATIONAL PSYCHIATRY (2018)

Article Genetics & Heredity

Understanding the Hidden Complexity of Latin American Population Isolates

Jazlyn A. Mooney et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Clinical Neurology

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

Gyungah R. Jun et al.

ALZHEIMERS & DEMENTIA (2017)

Article Clinical Neurology

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

Jesse Mez et al.

ALZHEIMERS & DEMENTIA (2017)

Article Biochemistry & Molecular Biology

APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease

J. I. Velez et al.

MOLECULAR PSYCHIATRY (2016)

Article Geriatrics & Gerontology

A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin

Yuetiva Deming et al.

NEUROBIOLOGY OF AGING (2016)

Article Neurosciences

A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease

Jorge I. Velez et al.

NEURAL PLASTICITY (2016)

Article Clinical Neurology

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

Peter T. Nelson et al.

ACTA NEUROPATHOLOGICA (2014)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Article Medicine, General & Internal

Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ε4, and the Risk of Late-Onset Alzheimer Disease in African Americans

Christiane Reitz et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2013)

Article Genetics & Heredity

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

Jean-Charles Lambert et al.

NATURE GENETICS (2013)

Article Multidisciplinary Sciences

Heparan sulfate proteoglycans mediate internalization and propagation of specific proteopathic seeds

Brandon B. Holmes et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Genetics & Heredity

Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers

Matthew A. Lalli et al.

HUMAN MUTATION (2012)

Article Genetics & Heredity

Genome-wide efficient mixed-model analysis for association studies

Xiang Zhou et al.

NATURE GENETICS (2012)

Article Biochemical Research Methods

Robust relationship inference in genome-wide association studies

Ani Manichaikul et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate α-secretase activity

Minji Kim et al.

HUMAN MOLECULAR GENETICS (2009)

Article Clinical Neurology

Apolipoprotein Eε4 modifies Alzheimer's disease onset in an E280A PS1 kindred

P Pastor et al.

ANNALS OF NEUROLOGY (2003)