Zobrazeno 1 - 10
of 91
pro vyhledávání: '"cln3 disease"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-16 (2024)
Abstract Background Batten disease is a group of rare inherited neurodegenerative diseases. Juvenile CLN3 disease is the most prevalent type, and the most common pathogenic variant shared by most patients is the “1-kb” deletion which removes two
Externí odkaz:
https://doaj.org/article/492e82a243a747a4951570d6952af2f5
Autor:
Marcel Klein, Guido Hermey
Publikováno v:
Neural Regeneration Research, Vol 18, Iss 7, Pp 1463-1471 (2023)
Evidence from genetics and from analyzing cellular and animal models have converged to suggest links between neurodegenerative disorders of early and late life. Here, we summarize emerging links between the most common late life neurodegenerative dis
Externí odkaz:
https://doaj.org/article/4fd3b5e4858e4d20b4738582a662215e
Autor:
Jacinda Chen, Rajesh Kumar Soni, Yimeng Xu, Sabrina Simoes, Feng-Xia Liang, Laura DeFreitas, Robert Hwang, Jr., Jorge Montesinos, Joseph H. Lee, Estela Area-Gomez, Renu Nandakumar, Badri Vardarajan, Catherine Marquer
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104628- (2023)
Summary: Background: The most common form of neuronal ceroid lipofuscinosis (NCL) is juvenile CLN3 disease (JNCL), a currently incurable neurodegenerative disorder caused by mutations in the CLN3 gene. Based on our previous work and on the premise th
Externí odkaz:
https://doaj.org/article/7c799b4b21b24ad59d3201ed5f5b8cc6
Akademický článek
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Autor:
Lourens J. P. Nonkes, Willemijn F. E. Kuper, Karin Berrens‐Hogenbirk, Ruben E. A. Musson, Peter M. vanHasselt, Albert Huisman
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 100-103 (2021)
Abstract Quantifying lymphocyte vacuolization in peripheral blood smears (PBSs) serves as a measure for disease severity in CLN3 disease—a lysosomal storage disorder of childhood‐onset. However, thus far quantification methods are based on labor
Externí odkaz:
https://doaj.org/article/43aeac3783594367870bdff0c67e8d25
Autor:
Willemijn F. E. Kuper, Marlies Oostendorp, Brigitte T. A. van den Broek, Karin van Veghel, Lourens J. P. Nonkes, Edward E. S. Nieuwenhuis, Sabine A. Fuchs, Tineke Veenendaal, Judith Klumperman, Albert Huisman, Stefan Nierkens, Peter M. van Hasselt
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 87-97 (2020)
Abstract Background The CLN3 disease spectrum ranges from a childhood‐onset neurodegenerative disorder to a retina‐only disease. Given the lack of metabolic disease severity markers, it may be difficult to provide adequate counseling, particularl
Externí odkaz:
https://doaj.org/article/7886a21647e344d2b4f69eb6634c1ae8
Autor:
Gemma Gomez-Giro, Jonathan Arias-Fuenzalida, Javier Jarazo, Dagmar Zeuschner, Muhammad Ali, Nina Possemis, Silvia Bolognin, Rashi Halder, Christian Jäger, Willemijn F. E. Kuper, Peter M. van Hasselt, Holm Zaehres, Antonio del Sol, Herman van der Putten, Hans R. Schöler, Jens C. Schwamborn
Publikováno v:
Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)
Abstract The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing pediatric neurodegeneration. The genetic disorder, which is caused by recessive mutations affec
Externí odkaz:
https://doaj.org/article/e28ca03024ec42bf892e968c69946796
Akademický článek
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Autor:
Lotta Parviainen, Sybille Dihanich, Greg W. Anderson, Andrew M. Wong, Helen R. Brooks, Rosella Abeti, Payam Rezaie, Giovanna Lalli, Simon Pope, Simon J. Heales, Hannah M. Mitchison, Brenda P. Williams, Jonathan D. Cooper
Publikováno v:
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-21 (2017)
Abstract The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of inherited, fatal neurodegenerative disorders of childhood. In these disorders, glial (microglial and astrocyte) activation typically occurs early in disease progressi
Externí odkaz:
https://doaj.org/article/3fb268f03bd943c5b78884dc1a176f68
Autor:
Marta A. Tarczyluk-Wells, Christoph Salzlechner, Allison R. Najafi, Ming J. Lim, David Smith, Frances M. Platt, Brenda P. Williams, Jonathan D. Cooper
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Batten disease, or juvenile NCL, is a fatal neurodegenerative disorder that occurs due to mutations in the CLN3 gene. Because the function of CLN3 remains unclear, experimental therapies for JNCL have largely concentrated upon the targeting of downst
Externí odkaz:
https://doaj.org/article/ecd5e67225c242208ea68874dda9354c