Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Susan L Cotman"'
Autor:
Jeremy Carlos Burns, Bunny Cotleur, Dirk M Walther, Bekim Bajrami, Stephen J Rubino, Ru Wei, Nathalie Franchimont, Susan L Cotman, Richard M Ransohoff, Michael Mingueneau
Publikováno v:
eLife, Vol 9 (2020)
To date, microglia subsets in the healthy CNS have not been identified. Utilizing autofluorescence (AF) as a discriminating parameter, we identified two novel microglia subsets in both mice and non-human primates, termed autofluorescence-positive (AF
Externí odkaz:
https://doaj.org/article/2da604ca9b974a5299cfeca64a35662e
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e110544 (2014)
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, severe neurodegenerative disorders also known as Batten disease. Juvenile NCL (JNCL) is caused by recessive loss-of-function mutations in CLN3, which encodes a transmembrane protein t
Externí odkaz:
https://doaj.org/article/8e771adcc3de477dbb5616cd9d6d1b81
Autor:
John F Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C Wheeler, Rose-Mary Boustany, Diane E Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L Cotman
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e38310 (2012)
Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly inv
Externí odkaz:
https://doaj.org/article/1d1ada78800e44e893b4656b106c2943
Autor:
Yi Cao, John F Staropoli, Sunita Biswas, Janice A Espinola, Marcy E MacDonald, Jong-Min Lee, Susan L Cotman
Publikováno v:
PLoS ONE, Vol 6, Iss 2, p e17118 (2011)
Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of mitoch
Externí odkaz:
https://doaj.org/article/44c2d58788e64108b6626575145e5d9e
Autor:
William D. Kim, Morgan L. D. M. Wilson-Smillie, Aruban Thanabalasingam, Stephane Lefrancois, Susan L. Cotman, Robert J. Huber
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At least a dozen NCL subtypes have been identified that are each li
Autor:
Jeremy Carlos Burns, Bunny Cotleur, Dirk M Walther, Bekim Bajrami, Stephen J Rubino, Ru Wei, Nathalie Franchimont, Susan L Cotman, Richard M Ransohoff, Michael Mingueneau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e3eed187994c40ec57b4dbec2a9fbab
https://doi.org/10.7554/elife.57495.sa2
https://doi.org/10.7554/elife.57495.sa2
Autor:
Nathalie Franchimont, Richard M. Ransohoff, Ru Wei, Stephen J Rubino, Bekim Bajrami, Dirk Walther, Susan L. Cotman, Jeremy C. Burns, Bunny Cotleur, Michael Mingueneau
Publikováno v:
eLife, Vol 9 (2020)
eLife
eLife
To date, microglia subsets in the healthy CNS have not been identified. Utilizing autofluorescence (AF) as a discriminating parameter, we identified two novel microglia subsets in both mice and non-human primates, termed autofluorescence-positive (AF
Autor:
Elisabeth S. Butz, Mika O. Ruonala, Uma Chandrachud, Anton Petcherski, Stephen J. Haggarty, Surya A. Reis, Wen-Ning Zhao, Madeleine C Klein, Susan L. Cotman
Publikováno v:
Cells
Volume 8
Issue 12
Volume 8
Issue 12
Alterations in the autophagosomal&ndash
lysosomal pathway are a major pathophysiological feature of CLN3 disease, which is the most common form of childhood-onset neurodegeneration. Accumulating autofluorescent lysosomal storage material in CLN3
lysosomal pathway are a major pathophysiological feature of CLN3 disease, which is the most common form of childhood-onset neurodegeneration. Accumulating autofluorescent lysosomal storage material in CLN3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6748895c2beba6f340e22eb02091dd8f
http://publikationen.ub.uni-frankfurt.de/files/51693/container.zip
http://publikationen.ub.uni-frankfurt.de/files/51693/container.zip
Autor:
Hyeongseok Lee, Ramee Lee, Gwen E. Owens, Roy Jung, Seung Kwak, Ihn Sik Seong, Baehyun Shin, Ji-Joon Song, Jong-Min Lee, Hye Jin Oh, Susan L. Cotman, Ravi Vijayvargia, Marcy E. MacDonald
Publikováno v:
Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 11, Iss C, Pp 416-428 (2018)
Molecular Therapy: Nucleic Acids, Vol 11, Iss C, Pp 416-428 (2018)
The CAG repeat expansion that elongates the polyglutamine tract in huntingtin is the root genetic cause of Huntington’s Disease (HD), a debilitating neurodegenerative disorder. This seemingly slight change to the primary amino acid sequence alters
Autor:
Stephane Lefrancois, Susan L. Cotman
Publikováno v:
Neurosci Lett
The CLN3 gene was identified over two decades ago, but the primary function of the CLN3 protein remains unknown. Recessive inheritance of loss of function mutations in CLN3 are responsible for juvenile neuronal ceroid lipofuscinosis (Batten disease,