Accès ouvert
2023
article
OpenAlex
Sarah Kim, Kathleen Ochoa, Sierra E. Melli, Fawad A. K. Yousufzai et autres
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 …
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(code pays fourni par la source)
Accès ouvert
2022
preprint
OpenAlex
Sarah Kim, Kathleen Ochoa, Sierra E. Melli, Fawad A. K. Yousufzai et autres
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. Degeneration of PCs occurs early in NPC, however little …
us, pr
(code pays fourni par la source)
Accès ouvert
2020
article
OpenAlex
Bridget R. Boyle, Sierra E. Melli, Ruth S. Altreche, Zachary M. Padron et autres
ABSTRACT 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 greater extent in …
us
(code pays fourni par la source)
Accès ouvert
2019
article
OpenAlex
Larisa Kavetsky, Kayla K. Green, Bridget R. Boyle, Fawad A. K. Yousufzai et autres
Abstract Niemann Pick Type-C disease (NPC) is an inherited lysosomal storage disease (LSD) caused by pathogenic variants in theNpc1orNpc2genes that lead to the accumulation of cholesterol and lipids in lysosomes. NPC1 deficiency causes neurodegeneration, dementia and early death. Cerebellar Purkinje cells (PCs) …
us, pr
(code pays fourni par la source)