Modelling neurodegeneration in Saccharomyces cerevisiae: why cook with baker's yeast?

V Khurana, S Lindquist - Nature Reviews Neuroscience, 2010 - nature.com
In ageing populations, neurodegenerative diseases increase in prevalence, exacting an
enormous toll on individuals and their communities. Multiple complementary experimental …

[HTML][HTML] Cell biology of the NCL proteins: what they do and don't do

J Cárcel-Trullols, AD Kovács, DA Pearce - Biochimica et Biophysica Acta …, 2015 - Elsevier
The fatal, primarily childhood neurodegenerative disorders, neuronal ceroid lipofuscinoses
(NCLs), are currently associated with mutations in 13 genes. The protein products of these …

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 …

[HTML][HTML] Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

K Kollmann, K Uusi-Rauva, E Scifo, J Tyynelä… - … et Biophysica Acta (BBA …, 2013 - Elsevier
Neuronal ceroid lipofuscinoses (NCL) comprise a group of inherited lysosomal disorders
with variable age of onset, characterized by lysosomal accumulation of autofluorescent …

The CLN3 gene and protein: What we know

M Mirza, A Vainshtein, A DiRonza… - Molecular genetics & …, 2019 - Wiley Online Library
Background One of the most important steps taken by Beyond Batten Disease Foundation in
our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science …

[HTML][HTML] Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses

ES Butz, U Chandrachud, SE Mole… - Biochimica et Biophysica …, 2020 - Elsevier
The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared
clinical and pathological features, including seizures and progressive decline in vision …

The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking

SL Cotman, JF Staropoli - Clinical lipidology, 2012 - Taylor & Francis
Loss-of-function mutations in CLN3 are responsible for juvenile-onset neuronal ceroid
lipofuscinosis (JNCL), or Batten disease, which is an incurable lysosomal disease that …

[HTML][HTML] Use of model organisms for the study of neuronal ceroid lipofuscinosis

M Bond, SM kleine Holthaus, I Tammen, G Tear… - … et Biophysica Acta (BBA …, 2013 - Elsevier
Neuronal ceroid lipofuscinoses are a group of fatal progressive neurodegenerative diseases
predominantly affecting children. Identification of mutations that cause neuronal ceroid …

Altered protein secretion in Batten disease

RJ Huber - Disease Models & Mechanisms, 2021 - journals.biologists.com
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 …

The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting

A Mamo, F Jules, K Dumaresq-Doiron… - … and cellular biology, 2012 - Taylor & Francis
Mutations in the gene encoding CLN5 are the cause of Finnish variant late infantile
Neuronal Ceroid Lipofuscinosis (NCL), and the gene encoding CLN5 is 1 of 10 genes …