Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …
[HTML][HTML] Neuronal ceroid lipofuscinoses
A Jalanko, T Braulke - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2009 - Elsevier
The neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative lysosomal storage
disorders of childhood, characterized by accumulation of autofluorescent ceroid …
disorders of childhood, characterized by accumulation of autofluorescent ceroid …
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
X Lojewski, JF Staropoli… - Human molecular …, 2014 - academic.oup.com
Neuronal ceroid lipofuscinosis (NCL) comprises∼ 13 genetically distinct lysosomal
disorders primarily affecting the central nervous system. Here we report successful …
disorders primarily affecting the central nervous system. Here we report successful …
[HTML][HTML] Protein folding diseases and neurodegeneration: lessons learned from yeast
J Winderickx, C Delay, A De Vos, H Klinger… - … et Biophysica Acta (BBA …, 2008 - Elsevier
Budding yeast Saccharomyces cerevisiae has proven to be a valuable model organism for
studying fundamental cellular processes across the eukaryotic kingdom including man. In …
studying fundamental cellular processes across the eukaryotic kingdom including man. In …
Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium
RJ Huber, S Mathavarajah - Cellular signalling, 2018 - Elsevier
Abstract Ceroid lipofuscinosis neuronal 5 (CLN5) is a member of a family of proteins that are
linked to neuronal ceroid lipofuscinosis (NCL). This devastating neurological disorder …
linked to neuronal ceroid lipofuscinosis (NCL). This devastating neurological disorder …
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function
AL Getty, DA Pearce - Cellular and molecular life sciences, 2011 - Springer
Neuronal ceroid lipofuscinoses (NCL) are caused by mutations in eight different genes, are
characterized by lysosomal accumulation of autofluorescent storage material, and result in a …
characterized by lysosomal accumulation of autofluorescent storage material, and result in a …
Role of mTOR in autophagic and lysosomal reactions to environmental stressors in molluscs
Lysosomal membrane stability (LMS) has been used in various organisms as a very
sensitive biomarker of stress. However, despite the abundance of data about regulation of …
sensitive biomarker of stress. However, despite the abundance of data about regulation of …
Modeling Huntington disease in yeast: perspectives and future directions
RP Mason, F Giorgini - Prion, 2011 - Taylor & Francis
Yeast have been extensively used to model aspects of protein folding diseases, yielding
novel mechanistic insights and identifying promising candidate therapeutic targets. In …
novel mechanistic insights and identifying promising candidate therapeutic targets. In …
Yeast buddies helping to unravel the complexity of neurodegenerative disorders
Neurodegenerative disorders have a profound effect on the quality of life of patients and
their environment. However, the development of adequate therapies requires accurate …
their environment. However, the development of adequate therapies requires accurate …
[HTML][HTML] The neuronal ceroid lipofuscinoses: Opportunities from model systems
KME Faller, R Gutierrez-Quintana, A Mohammed… - … et Biophysica Acta (BBA …, 2015 - Elsevier
The neuronal ceroid lipofuscinoses are a group of severe and progressive
neurodegenerative disorders, generally with childhood onset. Despite the fact that these …
neurodegenerative disorders, generally with childhood onset. Despite the fact that these …