(Q48829631)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22012656%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons (English)

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14 January 2020

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1

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14 January 2020

author name string

Susanne Fehr

2

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14 January 2020

Michaela Schweizer

3

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14 January 2020

Thomas Braulke

4

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14 January 2020

Giovanna Galliciotti

5

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14 January 2020

publication date

19 October 2011

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Journal of Neuroscience Research

14 January 2020

published in

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14 January 2020

volume

90

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14 January 2020

issue

3

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14 January 2020

page(s)

568-574

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

14 January 2020

cites work

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Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2

21 January 2018

1 reference

Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9

21 January 2018

1 reference

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

21 January 2018

1 reference

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Current state of clinical and morphological features in human NCL.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Developmental expression of palmitoyl protein thioesterase in normal mice

21 January 2018

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Sheep and other animals with ceroid-lipofuscinoses: their relevance to Batten disease.

21 January 2018

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A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

21 January 2018

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

21 January 2018

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

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The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy

21 January 2018

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

21 January 2018

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Long-Term Potentiation and Memory

21 January 2018

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

21 January 2018

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

21 January 2018

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Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6).

21 January 2018

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Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis

21 January 2018

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Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue

21 January 2018

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Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.

21 January 2018

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

21 January 2018

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Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders

21 January 2018

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A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.

21 January 2018

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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

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Neuronal ceroid lipofuscinoses

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JNR.22773

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14 January 2020

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