CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis (Q24315708)

Jansky–Bielschowsky disease

GOA release 2020-03-11

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author name string

M Savukoski

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T Klockars

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V Holmberg

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P Santavuori

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L Peltonen

Neuronal ceroid-lipofuscinoses in childhood

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language of work or name

English

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publication date

July 1998

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published in

Nature Genetics

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volume

19

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issue

3

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page(s)

286-8

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cites work

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7 January 2021

Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.

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7 January 2021

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

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7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

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7 January 2021

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

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7 January 2021

A variant of Jansky-Bielschowsky disease

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7 January 2021

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

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7 January 2021

Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.

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7 January 2021

A knowledge base for predicting protein localization sites in eukaryotic cells

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7 January 2021

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

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7 January 2021

Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease

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7 January 2021

Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism

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7 January 2021

Basic local alignment search tool

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7 January 2021

A simple method for displaying the hydropathic character of a protein

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7 January 2021

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

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7 January 2021