Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Charlie C. Pontikis"'
Autor:
Carina von Schantz, Catherine Kielar, Stine N. Hansen, Charlie C. Pontikis, Noreen A. Alexander, Outi Kopra, Anu Jalanko, Jonathan D. Cooper
Publikováno v:
Neurobiology of Disease, Vol 34, Iss 2, Pp 308-319 (2009)
Finnish variant LINCL (vLINCLFin) is the result of mutations in the CLN5 gene. To gain insights into the pathological staging of this fatal pediatric disorder, we have undertaken a stereological analysis of the CNS of Cln5 deficient mice (Cln5−/−
Externí odkaz:
https://doaj.org/article/cf7cf862ee644b84883b4ebd8eb3edb1
Autor:
Catherine Kielar, Lucy Maddox, Ellen Bible, Charlie C. Pontikis, Shannon L. Macauley, Megan A. Griffey, Michael Wong, Mark S. Sands, Jonathan D. Cooper
Publikováno v:
Neurobiology of Disease, Vol 25, Iss 1, Pp 150-162 (2007)
Infantile neuronal ceroid lipofuscinosis (INCL) is caused by deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). We have investigated the onset and progression of pathological changes in Ppt1 deficient mice (Ppt1−/−) and
Externí odkaz:
https://doaj.org/article/aa3203b030c6449b9cbd46d93157b0d1
Publikováno v:
Neurobiology of Disease, Vol 20, Iss 3, Pp 823-836 (2005)
Juvenile neuronal ceroid lipofuscinosis (JNCL) is the result of mutations in the Cln3 gene. The Cln3 knock-in mouse (Cln3Δex7/8) reproduces the most common Cln3 mutation and we have now characterized the CNS of these mice at 12 months of age. With t
Externí odkaz:
https://doaj.org/article/1c780d48d63749d9aee57b555a25453a
Autor:
Stine N. Hansen, Anu Jalanko, Catherine Kielar, Outi Kopra, Noreen A. Alexander, Jonathan D. Cooper, Charlie C. Pontikis, Carina von Schantz
Publikováno v:
Neurobiology of Disease, Vol 34, Iss 2, Pp 308-319 (2009)
Finnish variant LINCL (vLINCL Fin ) is the result of mutations in the CLN5 gene. To gain insights into the pathological staging of this fatal pediatric disorder, we have undertaken a stereological analysis of the CNS of Cln5 deficient mice ( Cln5 −
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43ce5ecdce4ca3ce22b0279103ff31e0
http://www.sciencedirect.com/science/article/pii/S096999610900028X
http://www.sciencedirect.com/science/article/pii/S096999610900028X
Autor:
Jonathan D. Cooper, Ming K. Lim, Amanda L. Getty, Jill M. Weimer, David A. Pearce, Jared W. Benedict, Charlie C. Pontikis
Publikováno v:
Brain Research. 1266:93-107
Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a neurodegenerative disease resulting from a mutation in CLN3, which presents clinically with visual deterioration, seizures, motor impairments, cognitive decline, hallucinations,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b32de4c94927153fb59eab8042e4242
https://doi.org/10.1016/j.brainres.2009.02.009
https://doi.org/10.1016/j.brainres.2009.02.009
Publikováno v:
Neurobiology of Disease, Vol 20, Iss 3, Pp 823-836 (2005)
Juvenile neuronal ceroid lipofuscinosis (JNCL) is the result of mutations in the Cln3 gene. The Cln3 knock-in mouse (Cln3Deltaex7/8) reproduces the most common Cln3 mutation and we have now characterized the CNS of these mice at 12 months of age. Wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4123430365b242380c9958baf188d7c4
https://doi.org/10.1016/j.nbd.2005.05.018
https://doi.org/10.1016/j.nbd.2005.05.018
Autor:
Jonathan D. Cooper, Nisha Parihar, Hannah M. Mitchison, Payam Rezaie, William C. Mobley, David A. Pearce, Shubhodeep Chakrabarti, Charlie C. Pontikis, Ming K. Lim, Claire V. Cella
Publikováno v:
Brain Research. 1023:231-242
Mouse models of neuronal ceroid lipofuscinosis (NCL) exhibit many features of the human disorder, with widespread regional atrophy and significant loss of GABAergic interneurons in the hippocampus and neocortex. Reactive gliosis is a characteristic o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7a6e21ee43791b231a80347f10582fa
https://doi.org/10.1016/j.brainres.2004.07.030
https://doi.org/10.1016/j.brainres.2004.07.030
Autor:
Ellen Bible, Michael Wong, Catherine Kielar, Charlie C. Pontikis, Shannon L. Macauley, Jonathan D. Cooper, Lucy Maddox, Mark S. Sands, Megan A. Griffey
Publikováno v:
Neurobiology of Disease, Vol 25, Iss 1, Pp 150-162 (2007)
Infantile neuronal ceroid lipofuscinosis (INCL) is caused by deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). We have investigated the onset and progression of pathological changes in Ppt1-deficient mice (Ppt1−/−) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de86d153890bcea21a23ef5a83594a4
https://europepmc.org/articles/PMC1866219/
https://europepmc.org/articles/PMC1866219/
Publikováno v:
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. 53(8)
Cellular prion protein (PrPc) is a glycoprotein expressed at low to moderate levels within the nervous system. Recent studies suggest that PrPc may possess neuroprotective functions and that its expression is upregulated in certain neurodegenerative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ddf2bc06ec7edddca04a887aeb0651b
https://pubmed.ncbi.nlm.nih.gov/16055747
https://pubmed.ncbi.nlm.nih.gov/16055747
Publikováno v:
Neuropathology and Applied Neurobiology. 28:166-167
Introduction: Cellular prion protein (PrPc) is a normal glycosyl phosphatidylinositol-anchored protein expressed on a wide variety of cell types. Within the CNS, low levels of PrPc are particularly associated with neurons in normal healthy individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29bfa03187f980721914bbaef70ceedd
https://doi.org/10.1046/j.1365-2990.2002.39286_49.x
https://doi.org/10.1046/j.1365-2990.2002.39286_49.x