(Q47073764)

5 January 2018

title

Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish (English)

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5 January 2018

author

Eija Jokitalo

3

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Mataleena Parikka

4

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Csaba Ortutay

5

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Mauno Vihinen

8

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5 January 2018

author name string

Ashok Aspatwar

1

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5 January 2018

Martti E E Tolvanen

2

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Sanna-Kaisa E Harjula

6

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Mika Rämet

7

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Seppo Parkkila

9

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publication date

18 October 2012

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5 January 2018

published in

Human Molecular Genetics

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5 January 2018

volume

22

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issue

3

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page(s)

417-432

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5 January 2018

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Human carbonic anhydrases and carbonic anhydrase deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Carbonic anhydrases: current state of the art, therapeutic applications and future prospects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Sequence and tissue expression of a novel human carbonic anhydrase-related protein, CARP-2, mapping to chromosome 19q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Functional diversity, conservation, and convergence in the evolution of the alpha-, beta-, and gamma-carbonic anhydrase gene families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Developmental expression of carbonic anhydrase-related proteins VIII, X, and XI in the human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Phylogeny and expression of carbonic anhydrase-related proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Carbonic anhydrase related protein VIII and its role in neurodegeneration and cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Convergent evolution on the molecular level

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Zebrafish in hematology: sushi or science?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

IP3 receptor/Ca2+ channel: from discovery to new signaling concepts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Expression of the acatalytic carbonic anhydrase VIII gene, Car8, during mouse embryonic development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Morphant technology in model developmental systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Decreased BDNF levels are a major contributor to the embryonic phenotype of huntingtin knockdown zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Effects of carbonic anhydrase VIII deficiency on cerebellar gene expression profiles in the wdl mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

CAPS: coevolution analysis using protein sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Stages of embryonic development of the zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

A new mathematical model for relative quantification in real-time RT-PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

21 January 2018

The Protein Data Bank

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS438

21 January 2018

Identifiers

DOI

10.1093/HMG/DDS438

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5 January 2018

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5 January 2018