Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses (Q37944570)

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English	Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

25 August 2017

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses (English)

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Europe PubMed Central

PubMed publication ID

25 August 2017

Anna-Elina Lehesjoki

2

object named as

Anna-Elina Lehesjoki

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Europe PubMed Central

PubMed publication ID

25 August 2017

object named as

Sara E Mole

3

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author name string

Maria Kousi

1

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Europe PubMed Central

PubMed publication ID

25 August 2017

language of work or name

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publication date

16 November 2011

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Europe PubMed Central

PubMed publication ID

25 August 2017

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Europe PubMed Central

PubMed publication ID

25 August 2017

33

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Europe PubMed Central

PubMed publication ID

25 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

25 August 2017

42-63

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Europe PubMed Central

PubMed publication ID

25 August 2017

A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Congenital ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A second case in the same family of congenital familial cerebral lipoidosis resembling amaurotic family idiocy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cloning and sequence analysis of cDNA for human cathepsin D

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The neuronal ceroid-lipofuscinoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Batten disease: evaluation of CLN3 mutations on protein localization and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Intracellular trafficking of the JNCL protein CLN3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The occurrence in proteins of the tripeptides Asn-X-Ser and Asn-X-Thr and of bound carbohydrate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Clinical and magnetic resonance imaging findings in batten disease: Analysis of the major mutation (1.02‐kb deletion)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Identification of novel lysosomal matrix proteins by proteome analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

New mutations in the neuronal ceroid lipofuscinosis genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Spectrum of mutations in the Batten disease gene, CLN3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Catalytic residues and substrate specificity of recombinant human tripeptidyl peptidase I (CLN2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

CLN3, the protein associated with batten disease: structure, function and localization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Northern epilepsy, a new member of the NCL family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Evolutionary families of metallopeptidases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The spectrum of Jansky-Bielschowsky disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Redesign of the substrate specificity of human cathepsin D: the dominant role of position 287 in the S2 subsite.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Molecular genetics of the NCLs -- status and perspectives

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cathepsin D deficiency is associated with a human neurodegenerative disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lysosomal targeting of palmitoyl-protein thioesterase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Purification and characterisation of a tripeptidyl aminopeptidase I from rat spleen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cathepsin D: a cellular roadmap

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Heterogeneity of late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Diagnosis of Neuronal Ceroid Lipofuscinosis (Batten Disease) by Electron Microscopy in Peripheral Blood Specimens

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Kufs disease: clinical features and forms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal testing for late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Apoptosis as the mechanism of neurodegeneration in Batten's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Two crystal structures for cathepsin D: the lysosomal targeting signal and active site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Strategy for mutation detection in CLN3: characterisation of two Finnish mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuronal ceroid-lipofuscinoses in childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuronal ceroid lipofuscinoses in childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

A variant of Jansky-Bielschowsky disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21624

1 reference

Europe PubMed Central

PubMed publication ID

25 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 August 2017

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