Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis (Q28308267)

12

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Hana Vlášková

object named as

Hana Vlaskova

4

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Sara E. Mole

object named as

Sara E Mole

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author name string

Maria Kousi

1

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Eija Siintola

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Lenka Dvorakova

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Julie Turnbull

5

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Meral Topcu

6

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Deniz Yuksel

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Sarenur Gokben

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Berge A Minassian

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Milan Elleder

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

10

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language of work or name

English

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publication date

March 2009

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published in

Brain

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volume

132

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page(s)

810-9

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issue

Pt 3

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cites work

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

The neuronal ceroid-lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

Cathepsin D deficiency is associated with a human neurodegenerative disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN366

release_oi5ejujdujfs7pkenv372mfp7e

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWN366

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Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/oi5ejujdujfs7pkenv372mfp7e