Ppt1‐deficiency dysregulates lysosomal Ca++ homeostasis contributing to pathogenesis in a mouse model of CLN1 disease
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12485
Abstract: Inactivating mutations in the PPT1 gene encoding palmitoyl‐protein thioesterase‐1 (PPT1) underlie the CLN1 disease, a devastating neurodegenerative lysosomal storage disorder. The mechanism of pathogenesis underlying CLN1 disease has remained elusive. PPT1 is a lysosomal enzyme,… read more here.
Keywords: lysosomal homeostasis; disease; cln1 disease; ppt1 deficiency ... See more keywords
CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease)
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-45859-9
Abstract: The neuronal ceroid lipofuscinoses (NCLs) are a group of devastating monogenetic lysosomal disorders that affect children and young adults with no cure or effective treatment currently available. One of the more severe infantile forms of… read more here.
Keywords: neuronal ceroid; crispr cas9; disease; model ... See more keywords
Spinal manifestations of CLN1 disease start during the early postnatal period
Sign Up to like & getrecommendations! Published in 2020 at "Neuropathology and Applied Neurobiology"
DOI: 10.1111/nan.12658
Abstract: To understand the progression of CLN1 disease and develop effective therapies we need to characterize early sites of pathology. Therefore, we performed a comprehensive evaluation of the nature and timing of early CLN1 disease pathology… read more here.
Keywords: manifestations cln1; disease start; pathology; cln1 disease ... See more keywords
An innovative hematopoietic stem cell gene therapy approach benefits CLN1 disease in the mouse model
Sign Up to like & getrecommendations! Published in 2022 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202215968
Abstract: Hematopoietic stem and progenitor cells (HSPCs) can lead to the establishment of a long-lasting microglia-like progeny in the brain of properly myeloablated hosts. We exploited this approach to treat the severe CLN1 neurodegenerative disorder, which… read more here.
Keywords: cln1 disease; transplantation; approach; hematopoietic stem ... See more keywords