Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis

Autor: Yvonne L. Latour, Robin Yoon, Sarah E. Thomas, Christina Grant, Cuiling Li, Miguel Sena-Esteves, Maria L. Allende, Richard L. Proia, Cynthia J. Tifft

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

GM1 gangliosidosis is an autosomal recessive neurodegenerative disorder caused by the deficiency of lysosomal β-galactosidase (β-gal) and resulting in accumulation of GM1 ganglioside. The disease spectrum ranges from infantile to late onset and is

Externí odkaz: https://doaj.org/article/2b29594b637545ee87b35dd4170f78d5

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S]

Autor: Maria L. Allende, Emily K. Cook, Bridget C. Larman, Adrienne Nugent, Jacqueline M. Brady, Diane Golebiowski, Miguel Sena-Esteves, Cynthia J. Tifft, Richard L. Proia

Publikováno v: Journal of Lipid Research, Vol 59, Iss 3, Pp 550-563 (2018)

Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of β-hexosaminidase A and B activity and the concomitant lysosomal accumulation of its substrate, GM2 ganglioside. It features catastrophic

Externí odkaz: https://doaj.org/article/92b131018d354437940c5128314b85f9

Genetic defects in the sphingolipid degradation pathway and their effects on microglia in neurodegenerative disease

Autor: Vienna L Huso, Mari Kono, Richard L. Proia, Lila E. Hoachlander-Hobby, Hongling Zhu, Maria L. Allende

Publikováno v: Cell Signal

Sphingolipids, which function as plasma membrane lipids and signaling molecules, are highly enriched in neuronal and myelin membranes in the nervous system. They are degraded in lysosomes by a defined sequence of enzymatic steps. In the related group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b760ef59155175565de7d8dafaa8e7fa
https://pubmed.ncbi.nlm.nih.gov/33296739

Author response: The Ormdl genes regulate the sphingolipid synthesis pathway to ensure proper myelination and neurologic function in mice

Autor: Benjamin A. Clarke, Teresa M. Dunn, Ronit Schwartz, Maria L. Allende, Caroline Khanna, Vienna L Huso, Cuiling Li, Colleen Byrnes, Hailey Blain, Saurav Majumder, Mari Kono, Hongling Zhu, Richard L. Proia, Galina Tuymetova, Y. Terry Lee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ac2bbbcf9e096c0642424bfb8adb7e69
https://doi.org/10.7554/elife.51067.sa2

Murine platelet production is suppressed by S1P release in the hematopoietic niche, not facilitated by blood S1P sensing

Autor: Najet Debili, Benoit Decouture, Sylvain Provot, Mari Kono, Eric Camerer, Ludovic Couty, Richard L. Proia, Maria L. Allende, Boubacar Mariko, Erica De Candia, Sonia Poirault-Chassac, Hira Niazi, Pierre-Louis Tharaux, Pierre Hadrien Becker, Véronique Baudrie, Christilla Bachelot-Loza, Rameez Ishaq, Nesrine Zoghdani, Anja Nitzsche, Alexandre Leuci, Yetki Aslan, Salome L. Gazit, Jerold Chun, Ammar Benarab, Patrice Therond, Pascale Gaussem

Publikováno v: Blood Advances
Blood Advances, The American Society of Hematology, 2019, 3 (11), pp.1702-1713. ⟨10.1182/bloodadvances.2019031948⟩
Blood Advances, 2019, 3 (11), pp.1702-1713. ⟨10.1182/bloodadvances.2019031948⟩

International audience; Key points • The vascular S1Pgradient is dispensablefor platelet formationin mice• Instead, local S1P production restrains megakaryopoiesis via S1P 1 and can further suppress platelet production via S1P 2 when deregulated.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2551795b23070694c0b2fa2f3eb1b57
https://www.hal.inserm.fr/inserm-02441591/document