A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis (Q46874383)

26 December 2017

title

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

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26 December 2017

author name string

Tomoyuki Awano

1

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26 December 2017

Martin L Katz

2

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26 December 2017

Dennis P O'Brien

3

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26 December 2017

Jeremy F Taylor

4

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26 December 2017

Jason Evans

5

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26 December 2017

Shahnawaz Khan

6

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26 December 2017

Istvan Sohar

7

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26 December 2017

Peter Lobel

8

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26 December 2017

Gary S Johnson

9

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26 December 2017

publication date

4 January 2006

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26 December 2017

Molecular Genetics and Metabolism

published in

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26 December 2017

volume

87

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26 December 2017

issue

4

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26 December 2017

page(s)

341-348

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26 December 2017

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

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

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

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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

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

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

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

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

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A variant form of neuronal ceroid lipofuscinosis in American bulldogs

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Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis

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Two polymorphic microsatellites in a coding segment of the canine androgen receptor gene.

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Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells

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

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Adult onset thalamocerebellar degeneration in dogs associated to neuronal storage of ceroid lipopigment

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Pyrosequencing sheds light on DNA sequencing

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Identifiers

DOI

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26 December 2017

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26 December 2017