Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers
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Functional Characterization of the Autophagy-Lysosomal Dysfunction in AD and PD
We have successfully identified multiple novel genetic associations between AD and common and rare variants in endolysosomal genes ( PLD3, RAB10, GRN12, TMEM106B, CPAMD8, MS4A4A). Recently, we performed a systematic, comprehensive evaluation of the contribution of coding variants in each...
Biorepository
This project aims to establish a repository of biosamples in patients with varying neurologic disorders. The proposed biorepository aims to collect a variety of high-quality biosamples and relate them to clinical information to support the accelerated identification of disease biomarkers for earlier...
Bruno A. Benitez Laboratory | BIDMC of Boston
The Benitez Lab is focused on a combination of state-of-the-art approaches in human genetic discoveries, functional genomic analyses with in vitro, and in vivo in AD or PD mouse models experiments.
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers
Benitez, BA, CM Karch, Y Cai, SC Jib, B Cooper, D Carrell, S Bertelsen, et al. 2013. “The PSEN1, P.E318G Variant Increases the Risk of Alzheimer’s Disease in APOE-ε4 Carriers”. PLoS Genet.
Missense variant in TREML2 protects against Alzheimer's disease
Benitez, BA, SC Jin, R Guerreiro, J Lord, D Harold, R Sims, JC Lambert, et al. 2014. “Missense Variant in TREML2 Protects Against Alzheimer’s Disease”. Neurobiol Aging.
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target.
Li, Yedda, Yue Xu, Bruno A Benitez, Murtaza S Nagree, Joshua T Dearborn, Xuntian Jiang, Miguel A Guzman, et al. 2019. “Genetic Ablation of Acid Ceramidase in Krabbe Disease Confirms the Psychosine Hypothesis and Identifies a New Therapeutic Target.”. Proceedings of the National Academy of Sciences of the United States of America 116 (40): 20097-103.
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease
Ibanez, L, U Dube, AA Davis, MV Fernandez, J Budde, B Cooper, M Diez-Fairen, et al. 2018. “Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease”. Front Neurosci.
Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease.
Ibanez, Laura, Jorge A Bahena, Chengran Yang, Umber Dube, Fabiana H G Farias, John P Budde, Kristy Bergmann, et al. 2020. “Functional Genomic Analyses Uncover APOE-Mediated Regulation of brain and Cerebrospinal Fluid Beta-Amyloid Levels in Parkinson Disease.”. Acta Neuropathologica Communications 8 (1): 196.