Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

M Kousi, AE Lehesjoki, SE Mole - Human mutation, 2012 - Wiley Online Library
The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …

[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 …

[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 …

[HTML][HTML] NCL disease mechanisms

DN Palmer, LA Barry, J Tyynelä, JD Cooper - Biochimica et Biophysica Acta …, 2013 - Elsevier
Despite the identification of a large number of disease-causing genes in recent years, it is
still unclear what disease mechanisms operate in the neuronal ceroid lipofuscinoses (NCLs …

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

C Kielar, TM Wishart, A Palmer… - Human molecular …, 2009 - academic.oup.com
Abstract Neuronal ceroid lipofuscinoses (NCLs; Batten disease) are collectively the most
frequent autosomal-recessive neurodegenerative disease of childhood, but the underlying …

A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease

JP Morgan, H Magee, A Wong, T Nelson, B Koch… - PloS one, 2013 - journals.plos.org
Neuronal ceroid lipofuscinoses (NCLs; also known collectively as Batten Disease) are a
family of autosomal recessive lysosomal storage disorders. Mutations in as many as 13 …

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

N Cannelli, B Garavaglia, A Simonati, C Aiello… - Biochemical and …, 2009 - Elsevier
The neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders
with typical autofluorescence material stored in tissues. Ten clinical NCL forms and eight …

An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease

HL Best, AJ Clare, KO McDonald… - Journal of …, 2021 - Wiley Online Library
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited childhood
neurodegenerative disorders. In addition to the accumulation of auto‐fluorescent storage …

[HTML][HTML] Extracellular matrix components: An intricate network of possible biomarkers for lysosomal storage disorders?

SP Batzios, DI Zafeiriou, E Papakonstantinou - FEBS letters, 2013 - Elsevier
Biomarkers are extremely important in the case of multisystemic diseases, such as
lysosomal storage disorders (LSDs), which are often difficult to assess in clinical practice …

Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6

T Mhlanga-Mutangadura, G Bullock, S Cerda-Gonzalez… - Genes, 2024 - mdpi.com
A 23-month-old neutered male dog of unknown ancestry presented with a history of
progressive neurological signs that included anxiety, cognitive impairment, tremors, seizure …