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 …
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 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
Dominantly inherited Alzheimer’s disease (DIAD) causes predictable biological changes
decades before the onset of clinical symptoms, enabling testing of interventions in the …
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 …
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 …
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
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 …
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 …
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
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 …
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 …
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 …
research and clinical purposes. However, the existence of multiple imaging tracers presents …