Progressive thalamocortical neuron loss in Cln5 deficient mice: Distinct effects in Finnish variant late infantile NCL

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

Tensor-based morphometry and stereology reveal brain pathology in the complexin1 knockout mouse.

Autor: Catherine Kielar, Stephen J Sawiak, Paloma Navarro Negredo, Desmond H Y Tse, A Jennifer Morton

Publikováno v: PLoS ONE, Vol 7, Iss 2, p e32636 (2012)

Complexins (Cplxs) are small, soluble, regulatory proteins that bind reversibly to the SNARE complex and modulate synaptic vesicle release. Cplx1 knockout mice (Cplx1(-/-)) have the earliest known onset of ataxia seen in a mouse model, although hithe

Externí odkaz: https://doaj.org/article/179f3e7b512c4be5a1fa83a8a54d700f

Early Neurodegeneration in R6/2 Mice Carrying the Huntington's Disease Mutation with a Super-Expanded CAG Repeat, Despite Normal Lifespan

Autor: A. Jennifer Morton, Catherine Kielar

Publikováno v: Journal of Huntington's disease. 7(1)

The threshold of CAG repeat expansion in the HTT gene that causes HD is 36 CAG repeats, although 'superlong' expansions are found in individual neurons in postmortem brains. Previously, we showed that, compared to mice with250 CAG repeats, onset of d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b0baf117a389c7f3de97efaaa413792
https://pubmed.ncbi.nlm.nih.gov/29480204

Synaptic Changes in the Thalamocortical System of Cathepsin D-Deficient Mice

Autor: Noreen A. Alexander, Jaana Tyynelä, Thomas H. Gillingwater, Paul Saftig, Sanna Partanen, Catherine Kielar, Aleksi Haapanen, Teija Inkinen, Jonathan D. Cooper, Charles Pontikis

Publikováno v: ResearcherID

Cathepsin D (CTSD; EC 3.4.23.5) is a lysosomal aspartic protease, the deficiency of which causes early-onset and particularly aggressive forms of neuronal ceroid-lipofuscinosis in infants, sheep, and mice. Cathepsin D deficiencies are characterized b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6813a6cf76cb331f0d5993199019ab12
https://doi.org/10.1097/nen.0b013e31815f3899

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

Autor: Shannon L. Macauley, Sybille Dihanich, Andrew Wong, David A. Pearce, Chun-Hung Chan, Mark S. Sands, Catherine Kielar, Jonathan D. Cooper, Thomas M. Wishart, Thomas H. Gillingwater, Alice Palmer

Publikováno v: Human molecular genetics, vol 18, iss 21
Kielar, C, Wishart, T M, Palmer, A, Dihanich, S, Wong, A M, Macauley, S L, Chan, C H, Sands, M S, Pearce, D A, Cooper, J D & Gillingwater, T H 2009, ' Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease ', Human Molecular Genetics, vol. 18, no. 21, pp. 4066-4080 . https://doi.org/10.1093/hmg/ddp355
Human Molecular Genetics

Neuronal ceroid lipofuscinoses (NCLs; Batten disease) are collectively the most frequent autosomal-recessive neurodegenerative disease of childhood, but the underlying cellular and molecular mechanisms remain unclear. Several lines of evidence have h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f7a5e7ddb52b87d7d71beaf4ed949f
https://escholarship.org/uc/item/1fh4x4bb