(Q40333380)

19 September 2017

A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis (English)

1 reference

19 September 2017

Tomoyuki Awano

1

1 reference

19 September 2017

Martin L Katz

2

1 reference

19 September 2017

Dennis P O'Brien

3

1 reference

19 September 2017

Istvan Sohar

4

1 reference

19 September 2017

Peter Lobel

5

1 reference

19 September 2017

Joan R Coates

6

1 reference

19 September 2017

Shahnawaz Khan

7

1 reference

19 September 2017

Gayle C Johnson

8

1 reference

19 September 2017

Urs Giger

9

1 reference

19 September 2017

Gary S Johnson

10

1 reference

19 September 2017

18 April 2006

1 reference

Molecular Genetics and Metabolism

19 September 2017

1 reference

19 September 2017

89

1 reference

19 September 2017

254-260

1 reference

19 September 2017

3

1 reference

Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview.

19 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Current state of clinical and morphological features in human NCL.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Isolation of a novel gene underlying batten disease, CLN3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

An adult case of canine neuronal ceroid-lipofuscinosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Neuronal ceroid-lipofuscinosis in older dachshunds

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Specific alterations in levels of mannose 6-phosphorylated glycoproteins in different neuronal ceroid lipofuscinoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

Pyrosequencing sheds light on DNA sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.02.016

10.1016/J.YMGME.2006.02.016

7 January 2021

Identifiers

DOI

1 reference

19 September 2017

1 reference