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] Human pathology in NCL
GW Anderson, HH Goebel, A Simonati - Biochimica et Biophysica Acta …, 2013 - Elsevier
In childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal
diseases and the most frequent neurodegenerative diseases but, in adulthood, they …
diseases and the most frequent neurodegenerative diseases but, in adulthood, they …
[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 …
Current and emerging treatment strategies for neuronal ceroid lipofuscinoses
A Kohlschütter, A Schulz, U Bartsch, S Storch - CNS drugs, 2019 - Springer
The neuronal ceroid lipofuscinoses comprise a group of neurodegenerative lysosomal
storage disorders caused by mutations in at least 13 different genes and primarily affect the …
storage disorders caused by mutations in at least 13 different genes and primarily affect the …
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 …
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 …
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
JM Holopainen, J Saarikoski… - European Journal of …, 2001 - Wiley Online Library
We report here the intracellular (pHi) and lysosomal pH in fibroblasts of six forms of neuronal
ceroid lipofuscinoses (NCLs). Acid extrusion rate and pHi values were measured by the …
ceroid lipofuscinoses (NCLs). Acid extrusion rate and pHi values were measured by the …
Classification of dystonia
Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or
posture caused by excessive muscle contraction. Because of its wide clinical spectrum …
posture caused by excessive muscle contraction. Because of its wide clinical spectrum …
Putting proteins in their place: palmitoylation in Huntington disease and other neuropsychiatric diseases
Post-translational modification of proteins by the lipid palmitate is critical for protein
localization and function. Palmitoylation is regulated by the opposing enzymes palmitoyl …
localization and function. Palmitoylation is regulated by the opposing enzymes palmitoyl …