Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6. (Q36378250)

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10 March 2020

title

Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6 (English)

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10 March 2020

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3

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10 March 2020

Minoru Wakamori

2

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10 March 2020

author name string

Toshinori Unno

1

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10 March 2020

Yasuo Uchiyama

4

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10 March 2020

Kinya Ishikawa

5

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10 March 2020

Hisahiko Kubota

6

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10 March 2020

Takashi Yoshida

7

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10 March 2020

Hiroko Sasakawa

8

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10 March 2020

Christoph Peters

9

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10 March 2020

Hidehiro Mizusawa

10

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10 March 2020

Kei Watase

11

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10 March 2020

language of work or name

English

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publication date

10 October 2012

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Proceedings of the National Academy of Sciences of the United States of America

10 March 2020

published in

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10 March 2020

volume

109

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10 March 2020

issue

43

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10 March 2020

page(s)

17693-17698

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Autophagy in lysosomal storage disorders

10 March 2020

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30 September 2017

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30 September 2017

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30 September 2017

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Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology.

30 September 2017

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The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.

30 September 2017

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PIKfyve regulates CaV1.2 degradation and prevents excitotoxic cell death

30 September 2017

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A gene network regulating lysosomal biogenesis and function

30 September 2017

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Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

30 September 2017

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Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels

30 September 2017

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A block of autophagy in lysosomal storage disorders

30 September 2017

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Trinucleotide Repeat Disorders

30 September 2017

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Diseases of unstable repeat expansion: mechanisms and common principles

30 September 2017

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Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death

30 September 2017

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Novel Cav2.1 splice variants isolated from Purkinje cells do not generate P-type Ca2+ current

30 September 2017

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Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6

30 September 2017

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Cathepsins B and D are dispensable for major histocompatibility complex class II-mediated antigen presentation

30 September 2017

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Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1

30 September 2017

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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

30 September 2017

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Electrophysiological properties of in vitro Purkinje cell somata in mammalian cerebellar slices

30 September 2017

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A transgenic mouse line that retains Cre recombinase activity in mature oocytes irrespective of the cre transgene transmission.

30 September 2017

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Suppression of cathepsins B and L causes a proliferation of lysosomes and the formation of meganeurites in hippocampus.

28 June 2018

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Lysosomal abnormalities in degenerating neurons link neuronal compromise to senile plaque development in Alzheimer disease

28 June 2018

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Dendritic transport. II. Somatofugal movement of neuronal lysosomes induced by colchicine: evidence for a novel transport system in dendrites.

28 June 2018

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Degeneration of the inferior olive in spinocerebellar ataxia 6 may depend on disease duration: report of two autopsy cases and statistical analysis of autopsy cases reported to date.

28 June 2018

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ORL1 receptor-mediated internalization of N-type calcium channels

21 January 2018

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Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions.

21 January 2018

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Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice.

21 January 2018

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Morphological Purkinje cell changes in spinocerebellar ataxia type 6

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23054835

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ubiquitin, cellular inclusions and their role in neurodegeneration

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23054835

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1212786109

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10 March 2020

0 references

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10 March 2020

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