Endosomal Trafficking in Alzheimer's Disease, Parkinson's Disease, and Neuronal Ceroid Lipofuscinosis

Autor: Christiane Reitz, Penelope Baez, Yasir H. Qureshi

Publikováno v: Mol Cell Biol

Neuronal ceroid lipofuscinosis (NCL) is one of the most prevalent neurodegenerative disorders of early life, Parkinson’s disease (PD) is the most common neurodegenerative disorder of midlife, while Alzheimer’s disease (AD) is the most common neur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21d0e9dd7dbedca8f0dce977916bb357
https://doi.org/10.1128/mcb.00262-20

Tau and other proteins found in Alzheimer's disease spinal fluid are linked to retromer-mediated endosomal traffic in mice and humans

Autor: Sabrina Simoes, Gallen Triana-Baltzer, Vivek M. Patel, Lawrence S. Honig, Hartmuth C. Kolb, Emily I. Chen, Scott A. Small, Jessica L. Neufeld, Setareh Moughadam, Yasir H. Qureshi, Milankumar Kothiya

Publikováno v: Sci Transl Med

Endosomal trafficking has emerged as a defective biological pathway in Alzheimer’s disease (AD), and the pathway is a source of cerebrospinal fluid (CSF) protein accumulation. Nevertheless, the identity of the CSF proteins that accumulate in the se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3f910faa561b85cb5666c8f69acc9d6
https://pubmed.ncbi.nlm.nih.gov/33239387

Alzheimer's vulnerable brain region relies on a distinct retromer core dedicated to endosomal recycling

Autor: Sabrina Simoes, Jia Guo, Luna Buitrago, Yasir H. Qureshi, Xinyang Feng, Milankumar Kothiya, Etty Cortes, Vivek Patel, Suvarnambiga Kannan, Young-Hyun Kim, Kyu-Tae Chang, S. Abid Hussaini, Herman Moreno, Gilbert Di Paolo, Olav M. Andersen, Scott A. Small

Publikováno v: Simoes, S, Guo, J, Buitrago, L, Qureshi, Y H, Feng, X, Kothiya, M, Cortes, E, Patel, V, Kannan, S, Kim, Y H, Chang, K T, Alzheimer's Disease Neuroimaging Initiative, Hussaini, S A, Moreno, H, Di Paolo, G, Andersen, O M & Small, S A 2021, ' Alzheimer's vulnerable brain region relies on a distinct retromer core dedicated to endosomal recycling ', Cell Reports, vol. 37, no. 13, 110182 . https://doi.org/10.1016/j.celrep.2021.110182
Cell reports

SUMMARY Whether and how the pathogenic disruptions in endosomal trafficking observed in Alzheimer’s disease (AD) are linked to its anatomical vulnerability remain unknown. Here, we began addressing these questions by showing that neurons are enrich

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce163941c0f1766bb10516055ad7604
https://doi.org/10.1016/j.celrep.2021.110182

P4‐694: RETROMER REPLETION WITH AAV9‐VPS35 RESTORES ENDOSOMAL FUNCTION IN THE MOUSE HIPPOCAMPUS

Autor: Rebecca Cox, Ronald L. Klein, Sabrina Simoes, Diego E. Berman, Vivek M. Patel, Gregory A. Petsko, Beth Stevens, Yasir H. Qureshi, Samuel D. Waksal, Suvarnambiga Kannan, Scott A. Small

Publikováno v: Alzheimer's & Dementia. 15

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d3c2928a3477ecdbcbc82826287f7d57
https://doi.org/10.1016/j.jalz.2019.09.058

An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect

Autor: Yasir H. Qureshi, Martin Medrano, Milankumar Kothiya, Diego E. Berman, Min Tang, Jessica L. Neufeld, Vivek M. Patel, Badri N. Vardarajan, Ivonne J. Jiménez-Velázquez, Dolly Reyes-Dumeyer, Rafael Lantigua, Scott A. Small, Christiane Reitz

Publikováno v: Molecular and Cellular Biology. 38

In a whole-exome sequencing study of multiplex Alzheimer's disease (AD) families, we investigated three neuronal ceroid lipofuscinosis genes that have been linked to retromer, an intracellular trafficking pathway associated with AD: ceroid lipofuscin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c1d18f795af119e2ccd68f5081bef9c
https://doi.org/10.1128/mcb.00011-18