The genetics of hereditary spastic paraplegia and implications for drug therapy (Q36895827)

16 August 2017

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title

The genetics of hereditary spastic paraplegia and implications for drug therapy (English)

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hereditary spastic paraplegia

16 August 2017

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1

Stephan Züchner

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PubMed ID

17661726

16 August 2017

language of work or name

English

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publication date

1 July 2007

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Expert Opinion on Pharmacotherapy

16 August 2017

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16 August 2017

8

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16 August 2017

10

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16 August 2017

1433-1439

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Classification of the hereditary ataxias and paraplegias

16 August 2017

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Emerging pathways for hereditary axonopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Hereditary motor neuropathies and motor neuron diseases: which is which.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Molecular genetics of distal hereditary motor neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Advances in the hereditary spastic paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

MicroRNAs: genomics, biogenesis, mechanism, and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

A second leaky splice-site mutation in the spastin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

The L1CAM extracellular region: a multi-domain protein with modular and cooperative binding modes

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

L1-dependent neuritogenesis involves ankyrinB that mediates L1-CAM coupling with retrograde actin flow.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Disruption of the mouse L1 gene leads to malformations of the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Pharmaceutical strategies against amyloidosis: old and new drugs in targeting a "protein misfolding disease".

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Inhibition of protein misfolding and aggregation by small rationally-designed peptides

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Inducers and co-inducers of molecular chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

The hereditary spastic paraplegia protein spartin localises to mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

RTP family members induce functional expression of mammalian odorant receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14656566.8.10.1433

10.1517/14656566.8.10.1433

21 January 2018

Identifiers

DOI

1 reference

16 August 2017

1 reference

PubMed ID

17661726