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1-5 of 5
Keywords: Batten disease
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Journal Articles
In collection:
Rare Disease Translational Research
Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L. Ware, Alexandra Grubman, James C. Vickers, Alice Pébay, Jonathan B. Ruddle, Anna E. King, Alex W. Hewitt, Anthony L. Cook
Journal:
Disease Models & Mechanisms
Dis Model Mech (2022) 15 (12): dmm049651.
Published: 13 December 2022
... acquisition: S.P., T.L.W., A.G., A.P., A.E.K., A.W.H., A.L.C. Funding This work was supported by grant funding from Batten Disease Support and Research Association Australia (RGP204), Royal Hobart Hospital Research Foundation (17-205) and a National Health and Medical Research Council Dementia...
Includes: Supplementary data
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2021) 14 (12): dmm049152.
Published: 6 December 2021
...Robert J. Huber ABSTRACT The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases that affect all ages and ethnicities worldwide. There are 13 different subtypes of NCL, each caused by a mutation in a distinct gene. The NCLs...
Includes: Supplementary data
Journal Articles
In collection:
Neurodegenerative Disorders
Ekaterina Savchenko, Yajuvinder Singh, Henna Konttinen, Katarina Lejavova, Laura Mediavilla Santos, Alexandra Grubman, Virve Kärkkäinen, Velta Keksa-Goldsteine, Nikolay Naumenko, Pasi Tavi, Anthony R. White, Tarja Malm, Jari Koistinaho, Katja M. Kanninen
Journal:
Disease Models & Mechanisms
Dis Model Mech (2017) 10 (9): 1089–1100.
Published: 1 September 2017
... attributed. Editors’ choice: This study demonstrates neurogenic alterations in the most common neurodegenerative disease of children and reports a novel function of the CLN5 protein. Neurogenesis Neuronal ceroid lipofuscinoses Batten disease Lysosomal storage disease Stem cells CLN5...
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2015) 8 (4): 351–361.
Published: 1 April 2015
...Attila D. Kovács; David A. Pearce Mutations in the CLN3 gene cause a fatal neurodegenerative disorder: juvenile CLN3 disease, also known as juvenile Batten disease. The two most commonly utilized mouse models of juvenile CLN3 disease are Cln3 -knockout ( Cln3 −/− ) and Cln3 Δex7/8 -knock-in mice...
Includes: Supplementary data
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2015) 8 (2): 147–156.
Published: 1 February 2015
... work is properly attributed. Neuronal ceroid lipofuscinosis Batten disease TPP1 Tripeptidyl peptidase 1 Dictyostelium Neuronal ceroid lipofuscinosis (NCL), or Batten disease, is the most common childhood-onset neurodegenerative disease, and it is characterized by a progressive...
Includes: Supplementary data