Condition: Neuronal Ceroid-Lipofuscinoses


rs386833694 in CLN3 gene and Neuronal Ceroid-Lipofuscinoses PMID 17868323 2007 Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.

PMID 17475770 2007 Nitric oxide signaling is disrupted in the yeast model for Batten disease.

PMID 10749980 2000 Batten disease: evaluation of CLN3 mutations on protein localization and function.

PMID 16291725 2005 btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.

PMID 9311735 1997 Spectrum of mutations in the Batten disease gene, CLN3.

PMID 19132115 2009 The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

PMID 20187884 2010 Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).

PMID 21499717 2011 Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 23539563 2013 The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

PMID 24271013 2014 Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

PMID 17947292 2008 A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

rs546989392 in CLN5;FBXL3 gene and Neuronal Ceroid-Lipofuscinoses PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

rs104894060 in CLN8 gene and Neuronal Ceroid-Lipofuscinoses PMID 19807737 2010 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 15024724 2004 Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

PMID 15160397 2004 Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

PMID 10861296 2000 The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.

rs587776892 in DNAJC5 gene and Neuronal Ceroid-Lipofuscinoses PMID 21820099 2011 Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

PMID 22235333 2012 Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

PMID 22073189 2011 Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

PMID 22902780 2012 Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.

PMID 22978711 2013 Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

rs386833966 in FBXL3;CLN5 gene and Neuronal Ceroid-Lipofuscinoses PMID 20052765 2010 The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

PMID 11971870 2002 Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.

PMID 24058541 2013 The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.

PMID 9662406 1998 CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.

PMID 24038957 2013 Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

PMID 20157158 2010 CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

PMID 22532218 2012 [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].

PMID 20960652 2008 Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant.

PMID 12134079 2002 Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 26342652 2015 Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.

PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

PMID 19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

rs137852700 in PPT1 gene and Neuronal Ceroid-Lipofuscinoses PMID 9425237 1998 Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

PMID 9664077 1998 Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

PMID 25574475 2014 Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.

PMID 10191107 1999 Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency.

PMID 11073228 2000 Neuronal ceroid lipofuscinoses: research update.

PMID 17565660 2007 Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.

PMID 11440996 2001 Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

PMID 10679943 2000 Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).

PMID 11589012 2001 New mutations in the neuronal ceroid lipofuscinosis genes.

rs113019349 in TPP1 gene and Neuronal Ceroid-Lipofuscinoses PMID 10330339 1999 Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

PMID 9788728 1998 Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.

PMID 26075876 2015 Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

PMID 23539563 2013 The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

PMID 18283468 2008 Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

PMID 15317752 2004 We analyzed the functional consequences of the mutations R127Q, R208X, N286S, I287N, T353P and Q422H, which were previously identified in patients with late infantile ceroid lipofuscinosis, with regard to enzymatic activity, stability, post-translational processing and intracellular localization of tripeptidyl-peptidase I.

PMID 9295267 1997 Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.

PMID 20340139 2010 Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 23266810 2013 Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

PMID 12698559 2003 [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11339651 2001 Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 19793312 2009 An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.

PMID 23418007 2013 Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

PMID 10356316 1999 Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.

PMID 12376936 2002 Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

PMID 22832778 2013 Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.