Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Fawad A. K. Yousufzai"'
Autor:
Sarah Kim, Kathleen Ochoa, Sierra E. Melli, Fawad A. K. Yousufzai, Zerian D. Barrera, Aela A. Williams, Gianna McIntyre, Esteban Delgado, James N. Bolish, Collin M. Macleod, Mary Boghos, Hayden P. Lens, Alex G. Ramos, Vincent B. Wilson, Kelly Maloney, Zachary M. Padron, Amaal H. Khan, Rosa E. Blanco, Ileana Soto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-17 (2023)
Abstract Purkinje cell (PC) loss occurs at an early age in patients and animal models of Niemann-Pick Type C (NPC), a lysosomal storage disease caused by mutations in the Npc1 or Npc2 genes. Although degeneration of PCs occurs early in NPC, little is
Externí odkaz:
https://doaj.org/article/d70f062b7cf54c8cb4206aba4396c0fe
Autor:
Collin M. MacLeod, Fawad A. K. Yousufzai, Liam T. Spencer, Sarah Kim, Lucianne A. Rivera-Rosario, Zerian D. Barrera, Lindsay Walsh, Claude Krummenacher, Benjamin Carone, Ileana Soto
Publikováno v:
PLoS ONE, Vol 18, Iss 11 (2023)
Externí odkaz:
https://doaj.org/article/0374e362a8424815b3864fa745642763
Autor:
Ellen Townes-Anderson, Éva Halász, Ilene Sugino, Amy L. Davidow, Laura J. Frishman, Luke Fritzky, Fawad A. K. Yousufzai, Marco Zarbin
Publikováno v:
Cells, Vol 12, Iss 11, p 1485 (2023)
Attachment of a detached retina does not always restore vision to pre-injury levels, even if the attachment is anatomically successful. The problem is due in part to long-term damage to photoreceptor synapses. Previously, we reported on damage to rod
Externí odkaz:
https://doaj.org/article/6c4e8862a31f4cf1bffdab749d1363ef
Autor:
Larisa Kavetsky, Kayla K. Green, Bridget R. Boyle, Fawad A. K. Yousufzai, Zachary M. Padron, Sierra E. Melli, Victoria L. Kuhnel, Harriet M. Jackson, Rosa E. Blanco, Gareth R. Howell, Ileana Soto
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)
Abstract Niemann Pick Type-C disease (NPC) is an inherited lysosomal storage disease (LSD) caused by pathogenic variants in the Npc1 or Npc2 genes that lead to the accumulation of cholesterol and lipids in lysosomes. NPC1 deficiency causes neurodegen
Externí odkaz:
https://doaj.org/article/0a3142fa18544a06af143d5a90ca39f0
Autor:
Sierra E. Melli, Dawn M. Carone, Bridget R. Boyle, Mariella D. Vasquez, Ruth S. Altreche, Fawad A. K. Yousufzai, Ileana Soto, Zachary M. Padron, Benjamin R. Carone, Sarah Kim
Publikováno v:
Development (Cambridge, England)
article-version (VoR) Version of Record
article-version (VoR) Version of Record
Little is known about the effects of NPC1 deficiency in brain development and whether these effects contribute to neurodegeneration in Niemann–Pick disease type C (NPC). Degeneration of cerebellar Purkinje cells occurs at an earlier stage and to a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::222edcb469c362c9092d0e10dd9c6b3a
https://doi.org/10.1242/dev.189019
https://doi.org/10.1242/dev.189019
Autor:
Harriet M. Jackson, Zachary M. Padron, Ileana Soto, Bridget R. Boyle, Fawad A. K. Yousufzai, Kayla K. Green, Victoria L. Kuhnel, Gareth R. Howell, Sierra E. Melli, Larisa Kavetsky, Rosa E. Blanco
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)
Niemann Pick Type-C disease (NPC) is an inherited lysosomal storage disease (LSD) caused by pathogenic variants in the Npc1 or Npc2 genes that lead to the accumulation of cholesterol and lipids in lysosomes. NPC1 deficiency causes neurodegeneration,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f4c92a395bfe8f43fea4436c413c009
https://pubmed.ncbi.nlm.nih.gov/31605022
https://pubmed.ncbi.nlm.nih.gov/31605022