scholarly journals CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses

2021 ◽  
Vol 42 (4) ◽  
pp. 129-138
Author(s):  
Yuki SHIRO ◽  
Arisa YAMASHITA ◽  
Kana WATANABE ◽  
Tetsuo YAMAZAKI
Keyword(s):  
Neuronal Ceroid Lipofuscinoses ◽  
Functional Interference

Neuronal Ceroid Lipofuscinoses Caused by Defects in Soluble Lysosomal Enzymes (CLN1 and CLN2)

2002 ◽  
Vol 2 (5) ◽  
pp. 423-437 ◽  
Author(s):  
Sandra Hofmann ◽  
Armita Atashband ◽  
Steve Cho ◽  
Amit Das ◽  
Praveena Gupta ◽  
...  
Keyword(s):  
Lysosomal Enzymes ◽  
Neuronal Ceroid Lipofuscinoses

scholarly journals Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses

Data in Brief ◽  
2021 ◽  
pp. 107188
Author(s):  
Katharina N. Russell ◽  
Nadia L. Mitchell ◽  
Martin P. Wellby ◽  
Graham K. Barrell ◽  
David N. Palmer
Keyword(s):  
Neuronal Ceroid Lipofuscinoses

scholarly journals Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses

iScience ◽  
2020 ◽  
pp. 102020
Author(s):  
Katharina Iwan ◽  
Robert Clayton ◽  
Philippa Mills ◽  
Barbara Csanyi ◽  
Paul Gissen ◽  
...  
Keyword(s):  
Neuronal Ceroid Lipofuscinoses ◽  
Proteomics Analysis ◽  
Urine Proteomics

scholarly journals The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

2015 ◽  
Vol 1852 (10) ◽  
pp. 2301-2311 ◽  
Author(s):  
Romina Kohan ◽  
Favio Pesaola ◽  
Norberto Guelbert ◽  
Patricia Pons ◽  
Ana María Oller-Ramírez ◽  
...  
Keyword(s):  
Translational Research ◽  
Neuronal Ceroid Lipofuscinoses ◽  
Research Experience

High sensitivity and specificity of the light-adapted ERG for neuronal ceroid lipofuscinoses (NCLs)

2017 ◽  
Vol 21 ◽  
pp. e138
Author(s):  
W. Morris ◽  
A. Brunklaus ◽  
I.A. Horrocks ◽  
S. Macleod ◽  
M.E. O'Regan ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
High Sensitivity ◽  
Neuronal Ceroid Lipofuscinoses

scholarly journals Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions

2017 ◽  
Vol 108 ◽  
pp. 277-287 ◽  
Author(s):  
Martin L. Katz ◽  
Eline Rustad ◽  
Grace O. Robinson ◽  
Rebecca E.H. Whiting ◽  
Jeffrey T. Student ◽  
...  
Keyword(s):  
Therapeutic Interventions ◽  
Neuronal Ceroid Lipofuscinoses ◽  
Preclinical Testing
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