Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease
J Lake, C Warly Solsberg, JJ Kim, J Acosta-Uribe… - Molecular …, 2023 - nature.com
Genome-wide association studies (GWAS) of Alzheimer's disease are predominantly carried
out in European ancestry individuals despite the known variation in genetic architecture and …
out in European ancestry individuals despite the known variation in genetic architecture and …
SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS
GR Linares, Y Li, WH Chang, J Rubin-Sigler… - Cell Stem Cell, 2023 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by many
diverse genetic etiologies. Although therapeutics that specifically target causal mutations …
diverse genetic etiologies. Although therapeutics that specifically target causal mutations …
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges
The relevant study of transcriptome-wide variations and neurological disorders in the
evolved field of genomic data science is on the rise. Deep learning has been highlighted …
evolved field of genomic data science is on the rise. Deep learning has been highlighted …
The influence of 17q21.31 and APOE genetic ancestry on neurodegenerative disease risk
Advances in genomic research over the last two decades have greatly enhanced our
knowledge concerning the genetic landscape and pathophysiological processes involved in …
knowledge concerning the genetic landscape and pathophysiological processes involved in …
Single-nucleus RNA sequencing demonstrates an autosomal dominant Alzheimer's disease profile and possible mechanisms of disease protection
Highly penetrant autosomal dominant Alzheimer's disease (ADAD) comprises a distinct
disease entity as compared to the far more prevalent form of AD in which common variants …
disease entity as compared to the far more prevalent form of AD in which common variants …
[HTML][HTML] Association of common and rare variants with Alzheimer's Disease in over 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's …
Alzheimer's Disease (AD) is a common disorder of the elderly that is both highly heritable
and genetically heterogeneous. Here, we investigated the association between AD and both …
and genetically heterogeneous. Here, we investigated the association between AD and both …
Frontotemporal dementia presentation in patients with heterozygous p. H157Y variant of TREM2
Background The triggering receptor expressed on myeloid cell 2 (TREM2) is a major
regulator of neuroinflammatory processes in neurodegeneration. To date, the p. H157Y …
regulator of neuroinflammatory processes in neurodegeneration. To date, the p. H157Y …
Neurocognitive patterns across genetic levels in behavioral variant frontotemporal dementia: a multiple single cases study
Background Behavioral variant frontotemporal dementia (bvFTD) has been related to
different genetic factors. Identifying multimodal phenotypic heterogeneity triggered by …
different genetic factors. Identifying multimodal phenotypic heterogeneity triggered by …
Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p. Ile416Thr variant mirror Alzheimer's disease neuropathology
N Gomez-Sequeda, M Mendivil-Perez… - Scientific Reports, 2023 - nature.com
Familial Alzheimer's disease (FAD) is a complex neurodegenerative disorder for which there
are no therapeutics to date. Several mutations in presenilin 1 (PSEN 1), which is the catalytic …
are no therapeutics to date. Several mutations in presenilin 1 (PSEN 1), which is the catalytic …
Combination of Tramiprosate, Curcumin, and SP600125 Reduces the Neuropathological Phenotype in Familial Alzheimer Disease PSEN1 I416T Cholinergic-like …
N Gomez-Sequeda, M Jimenez-Del-Rio… - International Journal of …, 2024 - mdpi.com
Familial Alzheimer's disease (FAD) is a complex and multifactorial neurodegenerative
disorder for which no curative therapies are yet available. Indeed, no single medication or …
disorder for which no curative therapies are yet available. Indeed, no single medication or …