Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion (Q48934733)

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scientific article published on 5 September 2008

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English	Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion	scientific article published on 5 September 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

infantile onset spinocerebellar ataxia

0 references

spinocerebellar ataxia

1 reference

based on heuristic

inferred from title

Antti Sajantila

8

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Johannes N Spelbrink

10

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

author name string

Anna H Hakonen

1

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Steffi Goffart

2

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Sanna Marjavaara

3

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Anders Paetau

4

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Helen Cooper

5

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Kimmo Mattila

6

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Milla Lampinen

7

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Tuula Lönnqvist

9

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Anu Suomalainen

11

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

publication date

5 September 2008

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Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Human Molecular Genetics

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Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

17

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Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

23

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Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

3822-3835

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

1 reference

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21 January 2018

Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

Population-based study of delays in carotid imaging and surgery and the risk of recurrent stroke

1 reference

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21 January 2018

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

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21 January 2018

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

1 reference

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21 January 2018

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

1 reference

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21 January 2018

Reconstitution of a minimal mtDNA replisome in vitro

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

1 reference

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21 January 2018

Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia.

1 reference

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21 January 2018

Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.

1 reference

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21 January 2018

Transmutation of a heme protein

1 reference

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21 January 2018

Converting Cytochrome b5 into cytochrome c-like protein

1 reference

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21 January 2018

A heme tag for in vivo synthesis of artificial cytochromes

1 reference

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21 January 2018

Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

1 reference

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21 January 2018

Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy

1 reference

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21 January 2018

AIF deficiency compromises oxidative phosphorylation

1 reference

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21 January 2018

The layered structure of human mitochondrial DNA nucleoids

1 reference

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21 January 2018

Composition and dynamics of human mitochondrial nucleoids

1 reference

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21 January 2018

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

1 reference

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21 January 2018

Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN280

21 January 2018

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

1 reference

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21 January 2018

The involvement of DNA-damage and -repair defects in neurological dysfunction

1 reference

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Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism

1 reference

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21 January 2018

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

1 reference

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21 January 2018

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

1 reference

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21 January 2018

A bidirectional origin of replication maps to the major noncoding region of human mitochondrial DNA.

1 reference

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21 January 2018

The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities

1 reference

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21 January 2018

Identifiers

10.1093/HMG/DDN280

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/18775955

ResearchGate publication ID

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