Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Leigh E. Fremuth"'
Autor:
Jason A. Weesner, Ida Annunziata, Diantha van de Vlekkert, Camenzind G. Robinson, Yvan Campos, Ashutosh Mishra, Leigh E. Fremuth, Elida Gomero, Huimin Hu, Alessandra d’Azzo
Publikováno v:
Cell Reports, Vol 43, Iss 5, Pp 114117- (2024)
Summary: Endoplasmic reticulum-plasma membrane (ER-PM) junctions mediate Ca2+ flux across neuronal membranes. The properties of these membrane contact sites are defined by their lipid content, but little attention has been given to glycosphingolipids
Externí odkaz:
https://doaj.org/article/82ef0594197640f998e89cdc49f6a710
Autor:
Huimin Hu, Rosario Mosca, Elida Gomero, Diantha van de Vlekkert, Yvan Campos, Leigh E. Fremuth, Scott A. Brown, Jason A. Weesner, Ida Annunziata, Alessandra d’Azzo
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 644-658 (2021)
AAV-mediated gene therapy holds promise for the treatment of lysosomal storage diseases (LSDs), some of which are already in clinical trials. Yet, ultra-rare subtypes of LSDs, such as some glycoproteinoses, have lagged. Here, we report on a long-term
Externí odkaz:
https://doaj.org/article/4f4d2859730e48d497c3d91716323069
Autor:
Jillian Gallagher, Judith Gallant, Ping Xu, Rachael Gately, Stephanie Bertrand, Abigail McElroy, Erin Hall, Hector Benatti, Rachel Prestigiacomo, Kevin Luk, Leigh E. Fremuth, Diantha van de Vlekkert, Huimin Hu, Camilo Toro, Alessandra d'Azzo, Cynthia J. Tifft, Scot Wolfe, Jaime Rivera, Miguel Sena-Esteves, Heather Gray-Edwards
Publikováno v:
Molecular Genetics and Metabolism. 138:107109
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::148bdaa5717ead4b5916e666d7a8df5b
https://doi.org/10.1016/j.ymgme.2022.107109
https://doi.org/10.1016/j.ymgme.2022.107109
Autor:
Leigh E. Fremuth, Huimin Hu, Diantha van de Vlekkert, Jason A. Weesner, Elida M. Gomero, Alessandra d'Azzo
Publikováno v:
Molecular Genetics and Metabolism. 138:107105
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::674dc98919d1278346b672790097ac8d
https://doi.org/10.1016/j.ymgme.2022.107105
https://doi.org/10.1016/j.ymgme.2022.107105
Autor:
Rosario Mosca, Yvan Campos, Huimin Hu, Elida Gomero, Ida Annunziata, Scott A. Brown, Leigh E. Fremuth, Alessandra d'Azzo, Jason A. Weesner, Diantha van de Vlekkert
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 644-658 (2021)
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 644-658 (2021)
AAV-mediated gene therapy holds promise for the treatment of lysosomal storage diseases (LSDs), some of which are already in clinical trials. Yet, ultra-rare subtypes of LSDs, such as some glycoproteinoses, have lagged. Here, we report on a long-term
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f82391768a9793be0abd2a7c6d3be531
https://pubmed.ncbi.nlm.nih.gov/34901309
https://pubmed.ncbi.nlm.nih.gov/34901309
Autor:
Jaclyn Cadaoas, Rosario Mosca, Alessandra d'Azzo, Camilo Toro, Cynthia J. Tifft, Emil D. Kakkis, Vish Koppaka, Diantha van de Vlekkert, Simona Allievi, Leigh E. Fremuth, Ida Annunziata, Yvan Campos, Cinzia Gellera, Laura Canafoglia, Gepke Visser
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 3, p 695 (2020)
Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 695
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 695
Journal of Clinical Medicine
Congenital deficiency of the lysosomal sialidase neuraminidase 1 (NEU1) causes the lysosomal storage disease, sialidosis, characterized by impaired processing/degradation of sialo-glycoproteins and sialo-oligosaccharides, and accumulation of sialylat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c4912021671f6c322d4356e8bc2636
https://www.mdpi.com/2077-0383/9/3/695
https://www.mdpi.com/2077-0383/9/3/695
Autor:
Heather Tillman, Geoffrey Neale, Yvan Campos, Eda Machado, Martine F. Roussel, Rosario Mosca, Leigh E. Fremuth, Elmar Wolf, Gerard Grosveld, Ida Annunziata, Diantha van de Vlekkert, David Finkelstein, Alessandra d'Azzo, Xiaohui Qiu, Min-Joon Han, Jason A. Weesner
Publikováno v:
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-18 (2019)
Nature Communications, Vol 10, Iss 1, Pp 1-18 (2019)
Coordinated regulation of the lysosomal and autophagic systems ensures basal catabolism and normal cell physiology, and failure of either system causes disease. Here we describe an epigenetic rheostat orchestrated by c-MYC and histone deacetylases th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04bab6fb9ddee1cb364ac40615c6f6a
http://europepmc.org/articles/PMC6689058
http://europepmc.org/articles/PMC6689058