The molecular basis of human retinal and vitreoretinal diseases

W Berger, B Kloeckener-Gruissem… - Progress in retinal and eye …, 2010 - Elsevier
During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

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] 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 …

[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 …

The neuronal ceroid-lipofuscinoses (Batten disease)

SE Mole, A Schulz - Rosenberg's Molecular and Genetic Basis of …, 2025 - Elsevier
The neuronal ceroid-lipofuscinoses (NCLs), collectively also called Batten disease,
constitute one of the most common groups of inherited neurodegenerative disorders in …

You say lipofuscin, we say ceroid: defining autofluorescent storage material

SS Seehafer, DA Pearce - Neurobiology of aging, 2006 - Elsevier
Accumulation of intracellular autofluorescent material or “aging pigment” has been
characterized as a normal aging event. Certain diseases also exhibit a similar accumulation …

[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 …

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

M Kousi, E Siintola, L Dvorakova, H Vlaskova… - Brain, 2009 - academic.oup.com
The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders
of childhood, are characterized by the accumulation of autofluorescent storage material …

[HTML][HTML] A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs

SA Melville, CL Wilson, CS Chiang, VP Studdert… - Genomics, 2005 - Elsevier
Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disease found in Border collie
dogs, humans, and other animals. Disease gene studies in humans and animals provided …