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Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
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scholarly article
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Europe PubMed Central
PMCID
4567481
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11 August 2017
review article
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Europe PubMed Central
title
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
(English)
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Europe PubMed Central
PMCID
4567481
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11 August 2017
author
Sara E. Mole
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Sara E Mole
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Susan L Cotman
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2
object named as
Susan L Cotman
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Europe PubMed Central
PMCID
4567481
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11 August 2017
language of work or name
English
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publication date
27 May 2015
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Europe PubMed Central
PMCID
4567481
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11 August 2017
published in
Biochimica et Biophysica Acta
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Europe PubMed Central
PMCID
4567481
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11 August 2017
volume
1852
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Europe PubMed Central
PMCID
4567481
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11 August 2017
issue
10 Pt B
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Europe PubMed Central
PMCID
4567481
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11 August 2017
page(s)
2237-2241
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Europe PubMed Central
PMCID
4567481
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11 August 2017
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2 October 2017
Experimental therapies in the neuronal ceroid lipofuscinoses
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PubMed Central
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2 October 2017
Novel CLN3 mutation causing autophagic vacuolar myopathy
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A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle
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2 October 2017
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
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2 October 2017
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
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2 October 2017
CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.
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2 October 2017
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
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PubMed Central
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2 October 2017
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation
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PubMed Central
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2 October 2017
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
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PubMed Central
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2 October 2017
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
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2 October 2017
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage
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2 October 2017
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
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PubMed Central
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2 October 2017
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
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PubMed Central
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2 October 2017
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Progranulin is expressed within motor neurons and promotes neuronal cell survival
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stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population
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PubMed Central
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2 October 2017
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Cathepsin D deficiency is associated with a human neurodegenerative disorder
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
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2 October 2017
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
2 October 2017
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
2 October 2017
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
2 October 2017
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
2 October 2017
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
2 October 2017
Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
2 October 2017
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
11 July 2018
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
23 September 2018
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).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
23 September 2018
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
23 September 2018
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567481
retrieved
23 September 2018
Identifiers
DOI
10.1016/J.BBADIS.2015.05.011
1 reference
stated in
Europe PubMed Central
PMCID
4567481
retrieved
11 August 2017
PMCID
4567481
1 reference
stated in
Europe PubMed Central
PMCID
4567481
retrieved
11 August 2017
PubMed ID
26026925
1 reference
stated in
Europe PubMed Central
PMCID
4567481
retrieved
11 August 2017
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