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Functional Characterization of the Autophagy-Lysosomal Dysfunction in AD and PD

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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...

Molecular Pathogenesis of Adult Onset Neuronal Lipofuscinosis

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In 2011, we discovered that mutations in the DNAJC5 gene cause a neurodegenerative disease, the autosomal dominant form of neuronal ceroid lipofuscinosis (AD-ANCL). DNAJC5 encodes cysteine-string protein alpha (CSPα). In subsequent studies, we demonstrated in vitro and in vivo that CSPα plays a...

Functional reduction of SK3-mediated currents precedes AMPA-receptor-mediated excitotoxicity in dopaminergic neurons.

Publication: Journal Article

Benitez, BA, HM Belálcazar, A Anastasía, DT Mamah, CF Zorumski, DH Mascó, DG Herrera, and GA de Erausquin. 2011. “Functional Reduction of SK3-Mediated Currents Precedes AMPA-Receptor-Mediated Excitotoxicity in Dopaminergic Neurons.”. Neuropharmacology.

[Study of genetic variants in the BDNF, COMT, DAT1 and SERT genes in Colombian children with attention deficit disorder].

Publication: Journal Article

Ortega-Rojas, Jenny, Carlos E Arboleda-Bustos, Luis Morales, Bruno A Benitez, Diana Beltrán, Álvaro Izquierdo, Humberto Arboleda, and Rafael Vásquez. 2017. “[Study of Genetic Variants in the BDNF, COMT, DAT1 and SERT Genes in Colombian Children With Attention Deficit Disorder].”. Revista Colombiana de Psiquiatria 46 (4): 222-28.

Pooled-DNA Sequencing for Elucidating New Genomic Risk Factors, Rare Variants Underlying Alzheimer's Disease.

Publication: Journal Article

Jin, Sheng Chih, Bruno A Benitez, Yuetiva Deming, and Carlos Cruchaga. 2016. “Pooled-DNA Sequencing for Elucidating New Genomic Risk Factors, Rare Variants Underlying Alzheimer’s Disease.”. Methods in Molecular Biology (Clifton, N.J.) 1303: 299-314.

Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.

Publication: Journal Article

Anasagasti, Ander, Olatz Barandika, Cristina Irigoyen, Bruno A Benitez, Breanna Cooper, Carlos Cruchaga, Adolfo Lopez de Munain, and Javier Ruiz-Ederra. 2013. “Genetic High Throughput Screening in Retinitis Pigmentosa Based on High Resolution Melting (HRM) Analysis.”. Experimental Eye Research 116: 386-94.

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease.

Publication: Journal Article

Harms, Matthew, Bruno A Benitez, Nigel Cairns, Breanna Cooper, Paul Cooper, Kevin Mayo, David Carrell, et al. 2013. “C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease.”. JAMA Neurology 70 (6): 736-41.

Exploration of genetic susceptibility factors for Parkinson's disease in a South American sample.

Publication: Journal Article

Benitez, Bruno A, Diego A Forero, Gonzalo H Arboleda, Luis A Granados, Juan J Yunis, William Fernandez, and Humberto Arboleda. 2010. “Exploration of Genetic Susceptibility Factors for Parkinson’s Disease in a South American Sample.”. Journal of Genetics 89 (2): 229-32.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

Publication: Journal Article

Klionsky, Daniel J, Amal Kamal Abdel-Aziz, Sara Abdelfatah, Mahmoud Abdellatif, Asghar Abdoli, Steffen Abel, Hagai Abeliovich, et al. 2021. “Guidelines for the Use and Interpretation of Assays for Monitoring Autophagy (4th Edition)1.”. Autophagy 17 (1): 1-382.

Dolores Velit Soluta Nemo

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Impedit aliquid quas asperiores similique et. Dolores minus non qui deserunt. Sit Minima Eveniet Iusto Error. Quaerat eligendi occaecati nesciunt totam totam. Est ut commodi officiis. Dolor minus illo. Magnam eaque rerum suscipit sequi quae quisquam possimus. Rerum ipsum harum. Ea esse quis...