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

S Jayadev, JB Leverenz, E Steinbart, J Stahl, W Klunk… - Brain, 2010 - academic.oup.com
Mutations in presenilin 2 are rare causes of early onset familial Alzheimer’s disease.
Eighteen presenilin 2 mutations have been reported, although not all have been confirmed …

R47H variant of TREM2 associated with Alzheimer disease in a large late-onset family: clinical, genetic, and neuropathological study

O Korvatska, JB Leverenz, S Jayadev… - JAMA …, 2015 - jamanetwork.com
Importance The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2),
a modulator of the immune response of microglia, is a strong genetic risk factor for …

A trial of gantenerumab or solanezumab in dominantly inherited Alzheimer's disease

…, CL Masters, JR Brosch, GYR Hsiung, S Jayadev… - Nature medicine, 2021 - nature.com
Dominantly inherited Alzheimer’s disease (DIAD) causes predictable biological changes
decades before the onset of clinical symptoms, enabling testing of interventions in the …

[HTML][HTML] Hereditary ataxias: overview

S Jayadev, TD Bird - Genetics in Medicine, 2013 - Elsevier
The hereditary ataxias are a highly heterogeneous group of disorders phenotypically
characterized by gait ataxia, incoordination of eye movements, speech, and hand movements, and …

[HTML][HTML] Microglia and complement mediate early corticostriatal synapse loss and cognitive dysfunction in Huntington's disease

…, A Daggett, X Gu, YA Kim, RLM Faull, S Jayadev… - Nature Medicine, 2023 - nature.com
Huntington’s disease (HD) is a devastating monogenic neurodegenerative disease characterized
by early, selective pathology in the basal ganglia despite the ubiquitous expression of …

[HTML][HTML] Human microglia show unique transcriptional changes in Alzheimer's disease

…, JE Young, A Shojaie, GA Garden, S Jayadev - Nature Aging, 2023 - nature.com
Microglia, the innate immune cells of the brain, influence Alzheimer’s disease (AD) progression
and are potential therapeutic targets. However, microglia exhibit diverse functions, the …

SOBA: Development and testing of a soluble oligomer binding assay for detection of amyloidogenic toxic oligomers

…, A Smith, C Paschall, S Jayadev… - Proceedings of the …, 2022 - National Acad Sciences
The formation of toxic Amyloid β-peptide (Aβ) oligomers is one of the earliest events in the
molecular pathology of Alzheimer’s Disease (AD). These oligomers lead to a variety of …

[PDF][PDF] Depletion of the AD risk gene SORL1 selectively impairs neuronal endosomal traffic independent of amyloidogenic APP processing

…, C Kinoshita, DW Hailey, SA Small, S Jayadev… - Cell reports, 2020 - cell.com
SORL1/SORLA is a sorting receptor involved in retromer-related endosomal traffic and an
Alzheimer's disease (AD) risk gene. Using CRISPR-Cas9, we deplete SORL1 in hiPSCs to …

[HTML][HTML] Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis

…, SL Connor, L Casaday, S Jayadev… - Journal of clinical …, 2018 - Elsevier
Background Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective
sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high …

Comparison of Pittsburgh compound B and florbetapir in cross‐sectional and longitudinal studies

…, D Galasko, SH Yuan, S Jayadev… - Alzheimer's & …, 2019 - Wiley Online Library
Introduction Quantitative in vivo measurement of brain amyloid burden is important for both
research and clinical purposes. However, the existence of multiple imaging tracers presents …