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 …
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
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 …
[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 …
(NCLs), are currently associated with mutations in 13 genes. The protein products of these …
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
SE Mole, RE Williams, HH Goebel - Neurogenetics, 2005 - Springer
The neuronal ceroid lipofuscinoses (NCLs) are a group of severe neurodegenerative
diseases with onset usually in childhood and characterised by the intracellular accumulation …
diseases with onset usually in childhood and characterised by the intracellular accumulation …
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
E Siintola, M Topcu, N Aula, H Lohi… - The American Journal of …, 2007 - cell.com
The late-infantile–onset forms are the most genetically heterogeneous group among the
autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid …
autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid …
Neuronal ceroid lipofuscinosis: potential for targeted therapy
N Specchio, A Ferretti, M Trivisano, N Pietrafusa… - Drugs, 2021 - Springer
Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal
storage diseases that together represent the most common cause of dementia in children …
storage diseases that together represent the most common cause of dementia in children …
Neuronal ceroid lipofuscinoses
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate
cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL …
cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL …
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 …
characterized as a normal aging event. Certain diseases also exhibit a similar accumulation …
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for
most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been …
most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been …